MCID: HRD004
MIFTS: 57

Hereditary Breast Ovarian Cancer malady

Categories: Genetic diseases, Reproductive diseases, Rare diseases, Cancer diseases

Aliases & Classifications for Hereditary Breast Ovarian Cancer

About this section
Sources:
11Disease Ontology, 13DISEASES, 24GeneTests, 27GTR, 31ICD10 via Orphanet, 39MeSH, 45NCIt, 54Orphanet, 68UMLS, 69UMLS via Orphanet
See all MalaCards sources

Aliases & Descriptions for Hereditary Breast Ovarian Cancer:

Name: Hereditary Breast Ovarian Cancer 11 13
Hereditary Breast and Ovarian Cancer Syndrome 54 27 39 68
 
Breast/ovarian Cancer, Hereditary 24

Characteristics:

Orphanet epidemiological data:

54
hereditary breast and ovarian cancer syndrome:
Inheritance: Autosomal dominant; Age of onset: All ages

Classifications:



External Ids:

Disease Ontology11 DOID:5683
MeSH39 D061325
NCIt45 C8493
Orphanet54 ORPHA145
ICD10 via Orphanet31 C50, C56
UMLS via Orphanet69 C0677776

Summaries for Hereditary Breast Ovarian Cancer

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Disease Ontology:11 An autosomal dominant disease characterized by the higher than normal tendency to develop breast and ovarian cancers in genetically related families.

MalaCards based summary: Hereditary Breast Ovarian Cancer, also known as hereditary breast and ovarian cancer syndrome, is related to brca1 hereditary breast and ovarian cancer syndrome and brca2 hereditary breast and ovarian cancer syndrome. An important gene associated with Hereditary Breast Ovarian Cancer is BRCA1 (BRCA1, DNA Repair Associated), and among its related pathways are PLK3 signaling events and DDX1 as a regulatory component of the Drosha microprocessor. Affiliated tissues include breast, testes and ovary, and related mouse phenotypes are Decreased viability with cisplatin and Synthetic lethal with cisplatin.

Wikipedia:71 Hereditary breast–ovarian cancer syndromes (HBOC) are cancer syndromes that produce higher than... more...

Related Diseases for Hereditary Breast Ovarian Cancer

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Diseases in the Hereditary Breast Ovarian Cancer family:

Breast-Ovarian Cancer, Familial, 2 Breast-Ovarian Cancer, Familial 4
Breast-Ovarian Cancer, Familial, 1 Breast-Ovarian Cancer, Familial 3
Rad51c-Related Familial Susceptibility to Breast-Ovarian Cancer Rad51d-Related Familial Susceptibility to Breast-Ovarian Cancer

Diseases related to Hereditary Breast Ovarian Cancer via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50)    (show all 68)
idRelated DiseaseScoreTop Affiliating Genes
1brca1 hereditary breast and ovarian cancer syndrome12.3
2brca2 hereditary breast and ovarian cancer syndrome12.3
3pancreatic cancer11.4
4ovarian cancer10.7
5aorto-ventricular tunnel10.3BRCA1, BRCA2
6lymphoproliferative syndrome, ebv-associated, autosomal, 110.3CHEK2, TP53
7lung clear cell-sugar-tumor10.3BRCA1, BRCA2, TP53
8lethal congenital contracture syndrome 710.3BRCA1, BRCA2, NBN
9breast pericanalicular fibroadenoma10.3BRCA1, BRCA2, TP53
10paraphimosis10.3BRCA1, BRCA2, TP53
11bladder colloid adenocarcinoma10.3BRCA1, BRCA2, TP53
12mediastinum synovial sarcoma10.3BRCA1, BRCA2, TP53
13burn scar10.3BRCA1, BRCA2
14cellular ependymoma10.3BRCA1, BRCA2, TP53
15immunodeficiency due to a late component of complement deficiency10.3BRCA1, BRCA2, TP53
16mycobacterium kansasii10.3BRCA1, BRCA2, TP53
17kunjin encephalitis10.2BRCA1, BRCA2
18estrogen-receptor positive breast cancer10.2BRCA1, BRCA2, TP53
19congenital bile acid synthesis defect10.2BRCA2, PALB2, TP53
20pyomyositis10.2BRCA1, BRCA2, TP53
21metagonimiasis10.2BRCA1, BRCA2, TP53
22autoimmune disease of cardiovascular system10.2BRCA1, BRCA2
23fallopian tube carcinosarcoma10.2BRCA1, BRCA2, RAD51D, TP53
24dental caries10.2BRCA1, BRCA2, RAD51D, TP53
25nasal cavity disease10.2BRCA1, BRCA2, RAD51D, TP53
26progesterone-receptor positive breast cancer10.2BRCA1, BRCA2, TP53
27villoglandular endometrial endometrioid adenocarcinoma10.2BRCA1, BRCA2, PTEN, TP53
28heart malignant hemangiopericytoma10.2BRCA1, BRCA2
29nemaline myopathy 8, autosomal recessive10.2BRCA1, BRCA2, BRIP1, PALB2
30neuropathy, distal hereditary motor, type viib10.2BRCA1, BRCA2, MLH1
31bacteremia10.2BRCA1, BRCA2, MRE11, PALB2
32glanders10.2BRCA2, BRIP1, RAD51
33uterine corpus endometrial stromal sarcoma10.1BRCA1, MLH1, TP53
34polyembryoma of the ovary10.1BRCA1, BRCA2, CHEK2, PTEN, RAD51
35progesterone resistance10.1CHEK2, MRE11, NBN, RAD50
36prostatic adenoma10.0MLH1, PTEN, TP53
37submucosal invasive colon adenocarcinoma10.0BRCA2, STK11, TP53
38fibromatosis, gingival, 110.0MLH1, PMS1, PTEN
39bardet-biedl syndrome10.0BRCA1, BRCA2, MLH1, PTEN, TP53
40nevoid hypermelanosis, linear and whorled10.0BRCA1, BRCA2, MLH1, PTEN, TP53
41bronchogenic cyst10.0BRCA1, BRCA2, BRIP1, CHEK2, PALB2, PTEN
42childhood teratocarcinoma of the testis9.9BRCA1, BRCA2, PTEN, STK11
43herpes simplex encephalitic 69.9BRCA2, PTEN, STK11, TP53
44t-cell large granular lymphocyte leukemia9.9MLH1, PMS1, PTEN, TP53
45progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal dominant 39.9BRCA2, PTEN, STK11, TP53
46peroxisome biogenesis disorder 5b9.9BRCA1, CHEK2, MRE11, NBN, RAD50, TP53
47muscular dystrophy-dystroglycanopathy , type b, 29.9BRCA1, BRCA2, MLH1, PTEN, TP53
48prostate cancer, hereditary, x-linked 19.9PTEN, STK11, TP53
49epidermolysis bullosa, nonspecific, autosomal recessive9.9BRCA1, CHEK2, MRE11, NBN, RAD50, TP53
50pituitary stalk meningioma9.9BARD1, BRCA1, BRCA2, CHEK2, PTEN, RAD51

Graphical network of the top 20 diseases related to Hereditary Breast Ovarian Cancer:



Diseases related to hereditary breast ovarian cancer

Symptoms & Phenotypes for Hereditary Breast Ovarian Cancer

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GenomeRNAi Phenotypes related to Hereditary Breast Ovarian Cancer according to GeneCards Suite gene sharing:

26
idDescriptionGenomeRNAi Source AccessionScoreTop Affiliating Genes
1GR00101-A-410.0BARD1, BRCA1, BRCA2, BRIP1, RAD51
2GR00101-A-19.9BARD1, BRCA1, BRCA2, BRIP1, RAD51
3GR00016-A9.9BARD1, BRCA1, BRCA2, MRE11, RAD51D
4GR00103-A-09.4BRCA1, IGFBP4, PTEN, RAD51, RAD51C, TP53
5GR00151-A-27.3BARD1, BRCA1, BRCA2, PALB2, RAD51, BRCA1
6GR00250-A-36.4BARD1, BRCA1, BRCA2, BRIP1, CHEK2, MLH1
7GR00250-A-11.4BARD1, BRCA1, BRCA2, BRIP1, CHEK2, MLH1

MGI Mouse Phenotypes related to Hereditary Breast Ovarian Cancer according to GeneCards Suite gene sharing:

41 (show all 13)
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053718.7BRCA1, BRCA2, PALB2, PTEN, RAD50, RAD51D
2MP:00053818.0BRCA1, BRCA2, MLH1, PTEN, RAD50, STK11
3MP:00053887.8BRCA1, MLH1, PTEN, RAD50, STK11, TP53
4MP:00053897.3BRCA1, BRCA2, BRIP1, MLH1, MRE11, NBN
5MP:00107717.0BRCA1, BRCA2, MLH1, PALB2, PTEN, RAD50
6MP:00053806.8BARD1, BRCA1, BRCA2, MRE11, NBN, PALB2
7MP:00053786.5BARD1, BRCA1, BRCA2, IGFBP4, NBN, PALB2
8MP:00053796.5BRCA1, BRCA2, BRIP1, CHEK2, IGFBP4, MLH1
9MP:00053766.4BRCA1, BRCA2, BRIP1, CHEK2, IGFBP4, MLH1
10MP:00036316.3BARD1, BRCA1, BRCA2, BRIP1, CHEK2, MRE11
11MP:00020065.9BARD1, BRCA1, BRCA2, BRIP1, CHEK2, MLH1
12MP:00107685.8BARD1, BRCA1, BRCA2, CHEK2, MLH1, MRE11
13MP:00053845.6BARD1, BRCA1, BRCA2, BRIP1, CHEK2, MLH1

Drugs & Therapeutics for Hereditary Breast Ovarian Cancer

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Drugs for Hereditary Breast Ovarian Cancer (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show top 50)    (show all 59)
idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1
Letrozoleapproved, investigationalPhase 3397112809-51-53902
Synonyms:
1-[Bis-(4-cyanophenyl)methyl]-1,2,4-triazole
1-[bis(4-cyanophenyl)methyl]-1,2,4-triazole
112809-51-5
4,4'-((1h-1,2,4-triazol-1-yl)methylene)dibenzonitrile
4,4'-(1H-1,2,4-Triazol-1-ylmethylene)dibenzonitrile
4,4'-(1H-1,2,4-triazol-1-yl-methylene)-bis(benzonitrile)
4,4'-(1H-1,2,4-triazol-1-ylmethanediyl)dibenzonitrile
4,4'-(1H-1,2,4-triazol-1-ylmethylene)bis-Benzonitrile Letrozole
4,4'-(1h-1,2,4-triazol-1-ylmethylene) bis-benzonitrile
4,4'-(1h-1,2,4-triazol-1-ylmethylene)bis-benzonitrile
4,4'-(1h-1,2,4-triazol-1-ylmethylene)bisbenzonitrile
4-[(4-cyanophenyl)-(1,2,4-triazol-1-yl)methyl]benzonitrile
AB00514009
AC-1193
AC1L1GYT
AKOS005145822
BIDD:GT0015
BIDD:PXR0130
BPBio1_001331
BRD-K88789588-001-03-2
BSPBio_001209
Bio-0057
C067431
C08163
C17H11N5
CAS-112809-51-5
CCRIS 8822
CGS 20267
CGS 20267, Femara, Piroxicam, Letrozole
CGS-20267
CHEBI:6413
CHEMBL1444
CID3902
CPD000466343
 
D00964
DB01006
FEM-345
Femara
Femara (TN)
Femera
HMS1571M11
HMS2051E08
HMS2089L22
HSDB 7461
I06-0022
LS-38788
Letoval
Letrozol
Letrozole (JAN/USP/INN)
Letrozole [USAN:INN]
MLS000759455
MLS001424038
MLS002584991
MolPort-003-848-373
NCGC00016973-01
NCGC00016973-02
NSC719345
Novartis Brand of Letrozole
Prestwick0_001025
Prestwick1_001025
Prestwick2_001025
Prestwick3_001025
S1235_Selleck
SAM001246649
SMR000466343
SPBio_003070
TL8000371
UNII-7LKK855W8I
ZINC03778874
letrozole
2Hormones, Hormone Substitutes, and Hormone AntagonistsPhase 3, Phase 213168
3HormonesPhase 3, Phase 214415
4Hormone AntagonistsPhase 3, Phase 213180
5Estrogen AntagonistsPhase 3, Phase 21349
6EstrogensPhase 3, Phase 22542
7Aromatase InhibitorsPhase 3826
8Steroid Synthesis InhibitorsPhase 31763
9
Zoledronic acidapprovedPhase 2294118072-93-868740
Synonyms:
(1-Hydroxy-2-imidazol-1-ylethylidene)diphosphonic acid
(1-hydroxy-2-(1H-imidazol-1-yl)ethylidene)bisphosphonic acid
(1-hydroxy-2-imidazol-1-yl-1-phosphonoethyl)phosphonic acid
(1-hydroxy-2-imidazol-1-yl-phosphonoethyl)phosphonic acid monohydrate
(1-hydroxy-2-imidazol-1-ylethylidene)diphosphonic acid
118072-93-8
2-(imidazol-1-yl)-1-hydroxyethane-1,1-diphosphonic acid
2-(imidazol-1-yl)-1-hydroxyethylidene-1,1-bisphosphonic acid
AC-1092
AC1L2ACJ
AC1Q6RN3
AKOS005145739
Aclasta
Anhydrous Zoledronic Acid
BIDD:GT0292
BIDD:PXR0134
Bio-0112
Bisphosphonate 3
C088658
CGP 42'446
CGP 42446
CGP 42446A
CGP-42'446
CGP-42446
CHEBI:46557
CHEMBL924
CID68740
D08689
DB00399
 
FT-0082657
HMS2089O09
I06-0710
KS-1132
LS-181815
MolPort-002-885-874
MolPort-003-850-890
NCGC00159521-02
NCGC00159521-03
NSC721517
Novartis brand of zoledronic acid
Reclast
Reclast (TN)
S00092
S1314_Selleck
UNII-70HZ18PH24
ZOL
Zol
Zoledronate
Zoledronic Acid Anhydrous
Zoledronic Acid, Anhydrous
Zoledronic acid
Zoledronic acid (INN)
Zoledronic acid [USAN:INN]
Zometa
Zometa (Novartis)
Zometa (TN)
Zometa Concentrate
Zometa, Zomera, Aclasta and Reclast, Zoledronic Acid
[1-hydroxy-2-(1H-imidazol-1-yl)ethane-1,1-diyl]bis(phosphonic acid)
10
CarboplatinapprovedPhase 2, Phase 1205041575-94-410339178, 498142, 38904
Synonyms:
(SP-4-2)-diammine[cyclobutane-1,1-dicarboxylato(2-)-kappa(2)O,O']platinum
/h1-3H2,(H,7,8)(H,9,10)
/q
1,1-Cyclobutanedicarboxylate diammine platinum (II)
1,1-Cyclobutanedicarboxylate diammine platinum(II)
2*-1
2*1H2
41575-94-4
70903-55-8
AC-1457
AC1L8I6U
Ambap41575-94-4
BSPBio_003145
C 2538
C2043
C2538_SIGMA
C6H10N2O4Pt
CBDCA
CCRIS 3404
CHEBI:31355
CHEMBL1351
CHEMBL288376
CID10339178
CID2567
CID38904
CID426756
CID498142
CID5352133
CID6398587
CID6603770
Carbopaltin
Carboplatin
Carboplatin (JAN/USP/INN)
Carboplatin (USAN)
Carboplatin [USAN:INN:BAN:JAN]
Carboplatine
Carboplatine [French]
Carboplatino
Carboplatino [Spanish]
Carboplatinum
Carboplatinum [Latin]
Cbdca
Cyclobutane-1,1-dicarboxylate
D01363
DB00958
Diammine(1,1-cyclobutanedicarboxylato)platinum (II)
Diammine(cyclobutane-1,1-dicarboxylato(2-)-O,O')platinum
Diammine-1,1-cyclobutane dicarboxylate platinum II
DivK1c_000892
EINECS 255-446-0
EU-0100230
Ercar
HMS1921J16
HMS2090M05
HMS2092B22
HMS502M14
HSDB 6957
I14-2390
IDI1_000892
IUPAC: Azane
InChI=1/C6H8O4.2H2N.Pt/c7-4(8)6(5(9)10)2-1-3-6
 
JM 8
JM-8
KBio1_000892
KBio2_002009
KBio2_004577
KBio2_007145
KBio3_002645
KBioGR_000713
KBioSS_002009
LS-117689
Lopac-C-2538
Lopac0_000230
MolPort-003-665-501
MolPort-003-845-609
NCGC00015223-01
NCGC00093695-01
NCGC00094961-01
NCGC00094961-02
NCGC00094961-03
NCGC00162099-01
NCGC00162099-02
NCGC00167800-01
NCGC00178242-01
NINDS_000892
NSC 201345
NSC 241240
NSC-241240
NSC201345
NSC241240
Paraplatin
Paraplatin (TN)
Paraplatin, Carboplatin
Paraplatin-AQ
Platinum(+2) Cation
Platinum(II), (1, 1-cyclobutanedicar
Platinum, diammine(1,1-cyclobutanedicarboxylato(2-)-O,O')-, (SP-4-2)
Platinum, {diammine[1,1-cyclobut
S1215_Selleck
SPBio_000716
SPECTRUM1502106
Spectrum2_000898
Spectrum3_001503
Spectrum4_000337
Spectrum5_001094
Spectrum_001529
UNII-BG3F62OND5
azanide
carboplatin
cis -Diammine[1,1-cyclobutane-dicarboxylato] platinum
cis-(1,1-Cyclobutanedicarboxylato)diammineplatinum(II)
cis-(1,1-Cyclobutanedicarboxylato)diammineplatinum(ii)
cis-Diamine(1,1-cyclobutanedicarboxylato)platinum(II)
cis-Diamine[1,1-cyclobutanedicarboxylato]platinum(II)
cis-Diammine(1,1-cyclobutanedicarboxylato) platinum
cis-Diammine(1,1-cyclobutanedicarboxylato)platinum
cis-Diammine(1,1-cyclobutanedicarboxylato)platinum(II)
cis-Diammine(cyclobutanedicarboxylato)platinum II
cyclobutane-1,1-dicarboxylic acid
diammine[cyclobutane-1,1-dicarboxylato(2-)-k2O1,O1]platinum
nchembio.573-comp10
nchembio773-comp2
nchembio873-comp3
platinum(2+)
11
Paclitaxelapproved, vet_approvedPhase 2, Phase 1286433069-62-436314
Synonyms:
(2AR-(2aalpha,4beta,4abeta,6beta,9alpha(alpha r*,betas*),11alpha,12alpha,12balpha))-beta-(benzoylamino)-alpha-hydroxybenzenepropanoic acid 6,12b-bis(acetyloxy)-12-(benzoyloxy)-2a,3,4,4a,5,6,9,10,11,12,12a,12b-dodecahydro-4,11-dihydroxy-4a,8,13,13-tetramethyl-5-oxo-7,11-methano-1H-cyclodeca(3,4)benz(1,2-b)oxet-9-yl ester
12-benzoate, 9-ester with (2R,3S)-N-benzoyl-3-phenylisoserine
157069-30-2
33069-62-4
5beta,20-Epoxy-1,2-alpha,4,7beta,10beta,13alpha-hexahydroxytax-11-en-9-one 4,10-diacetate 2-benzoate 13-ester with (2R,3S)-N-benzoyl-3-phenylisoserine
7,11-Methano-1H-cyclodeca[3,4]benz[1,2-b]oxete, benzenepropanoic acid deriv.
7,11-Methano-5H-cyclodeca[3,4]benz[1,2-b]oxete,benzenepropanoic acid deriv.
7-Epi-Paclitaxel
7-Epi-Taxol
7-Epipaclitaxel
7-Epitaxol
7-epi-Paclitaxel
7-epi-Taxol
AB00513812
ABI 007
ABI-007
ABI007
AC-675
AC1L1IOG
AC1L1VJI
AC1L9AVF
ACon1_002231
ANX-513
Abraxane
Abraxane (TN)
Abraxane I.V. Suspension
Abraxis BioScience brand of albumin-bound paclitaxel
Ambotz33069-62-4
Anzatax
Asotax
BIDD:PXR0046
BMS 181339-01
BMS-181339
BMS-181339-01
BPBio1_000320
BRD-A23723433-001-01-2
BRD-A28746609-001-04-0
BRD-K62008436-001-03-1
BSPBio_000290
BSPBio_001152
BSPBio_002614
Bio-0076
Bio1_000362
Bio1_000851
Bio1_001340
Bio2_000416
Bio2_000896
Bristaxol
C07394
C466458
C47H51NO14
CCRIS 8143
CHEBI:103439
CHEBI:45863
CHEMBL100910
CHEMBL418410
CHEMBL48
CID36314
CID441276
CID4666
CID6713921
CID6915727
CPD-8718
Capxol
D00491
DB01229
DHP-107
DHP-208
DRG-0190
DTS-301
DivK1c_000441
EU-0101201
Ebetaxel
EmPAC
Epitaxol
Genaxol
Genetaxyl
Genexol
Genexol-PM
HMS1362J13
HMS1568O12
HMS1792J13
HMS1922K08
HMS1990J13
HMS2090D07
HMS2093K15
HMS501G03
HSDB 6839
I06-0014
IDI1_000441
IDI1_002171
Intaxel
KBio1_000441
KBio2_000492
KBio2_002016
KBio2_002509
KBio2_003060
KBio2_004584
KBio2_005077
KBio2_005628
KBio2_007152
KBio2_007645
KBio3_000903
KBio3_000904
KBio3_001834
KBio3_002987
KBioGR_000492
KBioGR_001893
 
KBioGR_002509
KBioSS_000492
KBioSS_002016
KBioSS_002517
LMPR0104390001
LS-31070
LipoPac
Lopac0_001201
MBT 0206
MEGxp0_001940
MLS000863266
MLS001077297
MLS002154218
MLS002172439
MLS002695976
MPI-5018
Micellar Paclitaxel
Mitotax
MolPort-001-742-627
MolPort-003-665-783
MolPort-003-932-365
NCGC00024995-02
NCGC00024995-03
NCGC00024995-04
NCGC00024995-05
NCGC00024995-06
NCGC00024995-07
NCGC00164367-01
NCGC00164367-02
NCGC00164367-03
NCI60_000601
NINDS_000441
NK 105
NP-010981
NSC 125973
NSC-125973
NSC125973
NSC358882
Nanotaxel
Neuro_000060
Nova-12005
OAS-PAC-100
OncoGel
Onxal
Onxol
Onxol, Taxol, Nov-Onxol, Paclitaxel
P1632
Paclical
Pacligel
Paclitaxel
Paclitaxel (JAN/USP)
Paclitaxel (JAN/USP/INN)
Paclitaxel (Taxol)
Paclitaxel [USAN:INN:BAN]
Paxceed
Paxene
Paxoral
Plaxicel
Praxel
Prestwick0_000155
Prestwick1_000155
Prestwick2_000155
Prestwick3_000155
Probes2_000350
QW 8184
S-8184 Paclitaxel Injectable Emulsion
S1150_Selleck
SDCCGMLS-0066823.P001
SDP-013
SMP1_000228
SMR000394086
SMR000857385
SPBio_000943
SPBio_002229
SPECTRUM1503908
ST50306996
Spectrum2_000872
Spectrum3_001057
Spectrum4_001197
Spectrum5_001491
Spectrum_001536
T 7402
T1912_SIGMA
T7191_SIGMA
T7402_SIGMA
TA1
TAXOL (TN)
TAXOL, 10-EPI,
TXL
TaxAlbin
Taxol
Taxol A
Taxol Konzentrat
Taxol.RTM. (Registered Trademark)
UNII-P88XT4IS4D
UPCMLD-DP108:001
UPCMLD-DP108:002
Vascular Wrap
Xorane
Yewtaxan
abi-007
albumin-bound paclitaxel
cMAP_000068
nab-paclitaxel
nchembio.188-comp1
nchembio.2007.34-comp9
nchembio.215-comp9
nchembio853-comp6
paclitaxel
weekly paclitaxel
12
TamoxifenapprovedPhase 239010540-29-12733526
Synonyms:
(Z)-1-(p-Dimethylaminoethoxyphenyl)-1,2-diphenyl-1-butene
(Z)-2-(4-(1,2-Diphenyl-1-butenyl)phenoxy)-N,N-dimethylethanamine
(Z)-2-(4-(1,2-diphenylbut-1-enyl)phenoxy)-N,N-dimethylethanamine
(Z)-2-(Para-(1,2-diphenyl-1-butenyl)phenoxy)-N,N-dimethylamine
(Z)-2-(para-(1,2-Diphenyl-1-butenyl)phenoxy)-N,N-dimethylamine (IUPAC)
(Z)-2-[4-(1,2)-DIPHENYL-1-BUTENYL)-PHENOXY]-N,N-DIMETHYLETHANAMINE
(Z)-2-[p-(1,2-Diphenyl-1-butenyl)phenoxy]-N,N-dimethylethylamine
,citrate
1-P-beta-Dimethylaminoethoxyphenyl-trans-1,2-diphenylbut-1-ene
1-Para-beta-dimethylaminoethoxyphenyl-trans-1,2-diphenylbut-1-ene
1-p-.beta.-Dimethylamino-ethoxyphenyl-trans-1,2-diphenylbut-1-ene
1-p-beta-Dimethylaminoethoxyphenyl-trans-1,2-diphenylbut-1-ene
1-para-beta-Dimethylaminoethoxyphenyl-trans-1,2-diphenylbut-1-ene
10540-29-1
1ya4
2-[4-[(Z)-1,2-diphenylbut-1-enyl]phenoxy]-N,N-dimethylethanamine
2-{4-[(1Z)-1,2-diphenylbut-1-en-1-yl]phenoxy}-N,N-dimethylethanamine
54965-24-1 (citrate)
AC1MBZ3R
Apo-Tamox
Apo-tamox
BIDD:ER0008
BIDD:GT0009
BIDD:PXR0003
BPBio1_000278
BRD-K93754473-001-02-9
BRD-K93754473-048-05-3
BSPBio_000252
BSPBio_001150
BSPBio_001982
C07108
C26H29NO
CCRIS 3275
CHEBI:41774
CHEMBL83
CID2733526
Citofen
Crisafeno
D08559
DB00675
Diemon
EINECS 234-118-0
Gen-Tamoxifen
Gen-tamoxifen
HMS1362J11
HMS1792J11
HMS1990J11
HMS2090N08
HSDB 6782
ICI 47699
ICI-46,474
ICI-47699
IDI1_000258
IDI1_002170
Istubol
Kessar
L024126
LS-393
Lopac0_001203
MLS001332535
MLS001332536
MolPort-003-850-384
 
NCGC00024928-01
NCGC00024928-03
NCGC00024928-04
NCGC00024928-05
NCGC00024928-07
NCGC00024928-08
NCGC00024928-09
NCGC00024928-12
NSC727681
Noltam
Nolvadex
Nolvadex-D
Nourytam
Novaldex
Novo-Tamoxifen
Oncomox
PMS-Tamoxifen
Pms-Tamoxifen
Prestwick2_000146
Prestwick3_000146
QTL1_000079
Retaxim
SMR000059172
ST50511785
Spectrum5_001417
Spectrum5_002043
T5648_SIGMA
TAMOXIFEN (TAMOXIFEN CITRATE (54965-24-1))
TRANS FORM OF TAMOXIFEN
Tamizam
Tamofen
Tamone
Tamoplex (TN)
Tamoxasta
Tamoxen
Tamoxifen
Tamoxifen (INN)
Tamoxifen (TN)
Tamoxifen (Z)
Tamoxifen Citrate
Tamoxifen [INN:BAN]
Tamoxifen and its salts
Tamoxifene
Tamoxifene [INN-French]
Tamoxifeno
Tamoxifeno [INN-Spanish]
Tamoxifenum
Tamoxifenum [INN-Latin]
Tamoxifène
Tocris-0999
Tomaxithen
Trans-Tamoxifen
UNII-094ZI81Y45
UPCMLD-DP027
Valodex
Zemide
cMAP_000044
nchembio.140-comp7
nchembio.76-comp1
nchembio732-comp3
tamoxifen
trans-2-[4-(1,2-Diphenyl-1-butenyl)phenoxy]-N,N-dimethylethylamine
trans-Tamoxifen
13
OlaparibapprovedPhase 1, Phase 2140763113-22-023725625
Synonyms:
4-(3-{[4-(cyclopropylcarbonyl)piperazin-1-yl]carbonyl}-4-fluorobenzyl)phthalazin-1(2H)-one
4-[(3-{[4-Cyclopropylcarbonyl)piperazin-4-yl]carbonyl}-4-fluorophenyl)methyl]phtalazin-1(2H)-one
4-[3-(4-Cyclopropanecarbonyl-piperazine-1-carbonyl)-4-fluoro-benzyl]-2H-phthalazin-1-one
763113-22-0
937799-91-2
AKOS005145764
AZD 2281
AZD-2281
AZD2281
 
Acylpiperazine analogue, 47
CHEMBL521686
EC-000.2324
EN002690
FT-0083489
KU-0059436
KU-59436
Olaparib
Olaparib, KU-0059436, AZD2281, KU0059436, AZD2281
S1060_Selleck
olaparib
14
Cyclophosphamideapproved, investigationalPhase 2293550-18-0, 6055-19-22907
Synonyms:
(+-)-Cyclophosphamide
(-)-Cyclophosphamide
(RS)-Cyclophosphamide
1-(bis(2-chloroethyl)amino)-1-oxo-2-aza-5-oxaphosphoridine
1-Bis(2-chloroethyl)amino-1-oxo-2-aza-5-oxaphosphoridin
2-[Bis(2-chloroethylamino)]-tetrahydro-2H-1,3,2-oxazaphosphorine-2-oxide
4-Hydroxy-cyclophosphan-mamophosphatide
50-18-0
60007-95-6
6055-19-2 (monohydrate)
75526-90-8
AC1L1EQQ
AI3-26198
ASTA
ASTA B518
Anhydrous cyclophosphamide
Asta B 518
B 518
B-518
BRN 0011744
BSPBio_002099
Bis(2-chloroethyl)phosphoramide cyclic propanolamide ester
C 0768
C07888
C7H15Cl2N2O2P
CB 4564
CB-4564
CCRIS 188
CHEBI:4027
CHEMBL32520
CHEMBL88
CID2907
CP
CPA
CTX
CY
Ciclofosfamida
Ciclofosfamida [INN-Spanish]
Ciclofosfamide
Ciclophosphamide
Ciclophosphamide [INN]
Clafen
Claphene
Cycloblastin
Cyclophosphamid
Cyclophosphamide
Cyclophosphamide (INN)
Cyclophosphamide (TN)
Cyclophosphamide (anhydrous form)
Cyclophosphamide (anhydrous)
Cyclophosphamide Monohydrate
Cyclophosphamide Sterile
Cyclophosphamide anhydrous
Cyclophosphamide, (+-)-Isomer
Cyclophosphamides
Cyclophosphamidum
Cyclophosphamidum [INN-Latin]
Cyclophosphan
Cyclophosphane
Cyclophosphanum
Cyclophosphoramide
Cyclostin
Cyklofosfamid
Cyklofosfamid [Czech]
Cytophosphan
Cytophosphane
Cytoxan
Cytoxan (TN)
Cytoxan Lyoph
D,L-Cyclophosphamide
D07760
 
DB00531
DivK1c_000246
EINECS 200-015-4
EU-0100238
Endoxan
Endoxan R
Endoxan-Asta
Endoxana
Endoxanal
Endoxane
Enduxan
Genoxal
HMS2090A12
HSDB 3047
Hexadrin
IDI1_000246
KBio1_000246
KBio2_001338
KBio2_003906
KBio2_006474
KBio3_001319
KBioGR_000888
KBioSS_001338
LS-1302
LS-99787
Ledoxina
Lopac-C-0768
Lopac0_000238
Lyophilized Cytoxan
Mitoxan
MolPort-001-783-420
N,N-Bis(2-chloroethyl)-1,3,2-oxazaphosphinan-2-amine 2-oxide
N,N-Bis(2-chloroethyl)tetrahydro-2H-1,3,2-oxazaphosphorin-2-amine 2-oxide
NCGC00015209-01
NCGC00015209-03
NCGC00015209-06
NCGC00091741-02
NCGC00091741-03
NCI-C04900
NCI60_002097
NINDS_000246
NSC 26271
NSC-26271
NSC26271
NSC273033
NSC273034
Neosar
Occupation, cyclophosphamide exposure
Procytox
RCRA waste no. U058
Rcra Waste Number U058
Rcra waste number U058
Revimmune
S1217_Selleck
SK 20501
SPBio_001071
STK177249
STOCK2S-91217
Semdoxan
Sendoxan
Senduxan
Spectrum2_001146
Spectrum3_000370
Spectrum4_000304
Spectrum5_000795
Spectrum_000858
UNII-6UXW23996M
WLN: T6MPOTJ BO BN2G2G
Zyklophosphamid
Zyklophosphamid [German]
bis(2-Chloroethyl)phosphami de cyclic propanolamide
bis(2-Chloroethyl)phosphamide cyclic propanolamide ester
cyclophosphamide
15
Doxorubicinapproved, investigationalPhase 2175123214-92-831703
Synonyms:
(1S,3S)-3-Glycoloyl-3,5,12-trihydroxy-10-methoxy-6,11-dioxo-1,2,3,4,6,11-hexahydrotetracen-1-yl 3-amino-2,3,6-trideoxy-alpha-L-lyxo-hexopyranoside
(8S-cis)-10-((3-amino-2,3,6-Trideoxy-alpha-L-lyxo-hexopyranosyl)oxy)-7,8,9,10-tetrahydro-6,8,11-trihydroxy-8-(hydroxyacetyl)-1-methoxy-5,12-naphthacenedione
111266-55-8
14-Hydroxydaunomycin
14-Hydroxydaunorubicine
14-hydroxydaunomycin
14-hydroxydaunorubicine
23214-92-8
23257-17-2
24385-08-8
25311-50-6
25316-40-9
25316-40-9 (hydrochloride)
29042-30-6
AC1L1M5T
AC1Q29OJ
ADM
ADR
Adriablastin
Adriacin (hydrochloride salt)
Adriamycin
Adriamycin PFS
Adriamycin PFS (hydrochloride salt)
Adriamycin RDF
Adriamycin RDF (hydrochloride salt)
Adriamycin Semiquinone
Adriamycin semiquinone
Adriblas tina
Adriblastin
Adriblastina
Adriblastina (TN)
Adriblastina (hydrochloride salt)
Aerosolized Doxorubicin
BPBio1_000502
BRD-K92093830-003-04-3
BSPBio_000456
BSPBio_001031
C01661
C27H29NO11
CCRIS 739
CHEBI:28748
CHEMBL179
CID31703
Caelyx
Conjugate of doxorubicin with humanized monoclonal antibody LL1 against CD74
Conjugate of doxorubicin with monoclonal antibody P4/D10 against GP120
D03899
DB00997
DM2
DOX-SL
Doxil
Doxo
Doxorubicin
Doxorubicin (USAN/INN)
Doxorubicin HCl
 
Doxorubicin Hydrochloride
Doxorubicin [USAN:INN:BAN]
Doxorubicin citrate
Doxorubicin hydrochloride (hydrochloride salt)
Doxorubicin-P4/D10
Doxorubicin-P4/D10 conjugate
Doxorubicin-hLL1
Doxorubicin-hLL1 conjugate
Doxorubicina
Doxorubicina [INN-Spanish]
Doxorubicine
Doxorubicine [INN-French]
Doxorubicinum
Doxorubicinum [INN-Latin]
EINECS 245-495-6
FI 106
Farmablastina (hydrochloride salt)
HMS2089H06
HSDB 3070
Hydroxydaunomycin hydrochlor ide (hydrochloride salt)
Hydroxydaunomycin hydrochloride (hydrochloride salt)
Hydroxydaunorubicin
Hydroxydaunorubicin hydrochloride (hydrochloride salt)
JT9100000
LMPK13050001
LS-1029
LS-165655
MLS000759533
Myocet
NCI-C01514
NChemBio.2007.10-comp13
NDC 38242-874
NIOSH/JT9100000
NSC 123127
Prestwick0_000438
Prestwick1_000438
Prestwick2_000438
Prestwick3_000438
Probes1_000151
Probes2_000129
RDF Rubex
Resmycin
Rubex
Rubex (hydrochloride salt)
SMP1_000106
SPBio_002395
TLC D-99
ThermoDox
Triferric doxorubicin
UNII-80168379AG
adiblastine (hydrochloride salt)
adr iablatina (hydrochloride salt)
adriablastine (hydrochloride salt)
adriablatina (hydrochloride salt)
adriblatina (hydrochloride salt)
doxorubicin
nchembio809-comp5
16
Docetaxelapproved, investigational, Approved May 1996Phase 21967114977-28-5148124, 9877265
Synonyms:
(2aR,4S,4aS,6R,9S,11S,12S,12aR,12bS)-12b-(acetyloxy)-12-(benzoyloxy)-2a,3,4,4a,5,6,9,10,11,12,12a,12b-dodecahydro-4,6,11-trihydroxy-4a,8,13,13-tetramethyl-5-oxo-7,11-methano-1H-cyclodeca[3,4]benz[1,2-b]oxet-9-yl (aR,bS)-b-[[(1,1-dimethylethoxy)carbonyl]amino]-a-hydroxybenzenepropanoate
(2alpha,5beta,7beta,10beta,13alpha)-4-(acetyloxy)-13-({(2R,3S)-3-[(tert-butoxycarbonyl)amino]-2-hydroxy-3-phenylpropanoyl}oxy)-1,7,10-trihydroxy-9-oxo-5,20-epoxytax-11-en-2-yl benzoate
01885_FLUKA
114977-28-5
4-(Acetyloxy)-13alpha-({(2R,3S)-3-[(tert-butoxycarbonyl)amino]-2-hydroxy-3-phenylpropanoyl}oxy)-1,7beta,10beta-trihydroxy-9-oxo-5beta,20-epoxytax-11-en-2alpha-yl benzoate
4-(acetyloxy)-13alpha-({(2R,3S)-3-[(tert-butoxycarbonyl)amino]-2-hydroxy-3-phenylpropanoyl}oxy)-1,7beta,10beta-trihydroxy-9-oxo-5beta,20-epoxytax-11-en-2alpha-yl benzoate
AC-383
AC1L3WHJ
ANX-514
BIND-014
C11231
CHEBI:4672
CHEMBL92
CID148124
D07866
DB01248
Docetaxel
Docetaxel (INN)
Docetaxel anhydrous
Docetaxel, Trihydrate
EmDOC
 
HMS2089K08
InChI=1/C43H53NO14/c1-22-26(55-37(51)32(48)30(24-15-11-9-12-16-24)44-38(52)58-39(3,4)5)20-43(53)35(56-36(50)25-17-13-10-14-18-25)33-41(8,34(49)31(47)29(22)40(43,6)7)27(46)19-28-42(33,21-54-28)57-23(2)45/h9-18,26-28,30-33,35,46-48,53H,19-21H2,1-8H3,(H,44,5
MolPort-003-847-005
N-Debenzoyl-N-(tert-butoxycarbonyl)-10-deacetylpaclitaxel
N-Debenzoyl-N-(tert-butoxycarbonyl)-10-deacetyltaxol
N-debenzoyl-N-(tert-butoxycarbonyl)-10-deacetylpaclitaxel
N-debenzoyl-N-(tert-butoxycarbonyl)-10-deacetyltaxol
N-debenzoyl-N-Boc-10-deacetyl taxol
NSC-628503
PSMA-targeted docetaxel nanoparticle
RP-56976
SDP-014
TXL
Taxotere
Taxotere (TN)
Taxotere(R)
XRP-6976L
docetaxel
docetaxel 114977-28-5
nchembio.188-comp8
nchembio.2007.34-comp7
nchembio.573-comp11
nchembio853-comp8
17
DoxilApproved June 1999Phase 2175131703
Synonyms:
Dox-SL
Doxil
 
Evacet
LipoDox
Pegylated Liposomal Doxorubicin Hydrochloride
liposomal doxorubicin
18DiphosphonatesPhase 2450
19Bone Density Conservation AgentsPhase 23376
20Antimitotic AgentsPhase 2, Phase 15657
21Antineoplastic Agents, HormonalPhase 25592
22Immunosuppressive AgentsPhase 2, Phase 113086
23Estrogen Receptor ModulatorsPhase 2645
24Selective Estrogen Receptor ModulatorsPhase 2601
25Antineoplastic Agents, PhytogenicPhase 2, Phase 15602
26Poly(ADP-ribose) Polymerase InhibitorsPhase 1, Phase 2340
27Albumin-Bound PaclitaxelPhase 2, Phase 12864
28Anti-Bacterial AgentsPhase 2, Phase 111226
29Antibiotics, AntitubercularPhase 2, Phase 17180
30ImmunoglobulinsPhase 1, Phase 26394
31Antibodies, MonoclonalPhase 1, Phase 24039
32AntibodiesPhase 1, Phase 26394
33
tremelimumabPhase 1, Phase 2115
Synonyms:
206
CP675
 
CP675206
Ticilimumab
tremelimumab
34Topoisomerase InhibitorsPhase 25069
35Antineoplastic Agents, AlkylatingPhase 24603
36Alkylating AgentsPhase 24827
37Antirheumatic AgentsPhase 210956
38CitrateNutraceuticalPhase 21160
39
Citric Acidnutraceutical, vet_approvedPhase 2116077-92-9311
Synonyms:
2-Hydroxy-1,2,3-propanetricarboxylate
2-Hydroxy-1,2,3-propanetricarboxylic acid
2-Hydroxytricarballylic acid
3-Carboxy-3-hydroxypentane-1,5-dioate
3-Carboxy-3-hydroxypentane-1,5-dioic acid
Aciletten
Anhydrous citrate
Anhydrous citric acid
Chemfill
Citraclean
 
Citrate
Citretten
Citric acid
Citro
Citronensäure
E 330
Hydrocerol A
Kyselina citronova
Suby G
Uro-trainer
beta-Hydroxytricarballylate
beta-Hydroxytricarballylic acid
40
Sirolimusapproved, investigationalPhase 1194053123-88-95284616, 6436030, 46835353
Synonyms:
(-)-Rapamycin
(-)-rapamycin
1fkb
1pbk
23,27-Epoxy-3H-pyrido(2,1-c)(1,4)oxaazacyclohentriacontine
23,27-Epoxy-3H-pyrido[2,1-c][1,4]oxaazacyclohentriacontine
23,27-epoxy-3H-pyrido[2,1-c][1,4]oxaazacyclohentriacontine-1,5,11,28,29
3H-pyrido(2,1-c)(1,4)oxaazacyclohentriacontine-1,5,11,28,29(4H,6H,31H)-pentone
53123-88-9
A422989, NSC226080
AC-722
AC1L1JH9
AC1L7MJ9
AC1L9ZMV
AY 22989
AY-22989
AY22989
Ambotz53123-88-9
Antibiotic AY 22989
BIDD:PXR0165
Bio1_000293
Bio1_000782
Bio1_001271
Bio2_000375
Bio2_000855
BiomolKI2_000084
C07909
C51H79NO13
CBiol_002007
CCRIS 9024
CHEBI:100923
CHEBI:9168
CHEMBL413
CID10213190
CID10795871
CID11949238
CID11959112
CID313006
CID478951
CID5040
CID5284616
CID5358081
CID5374464
CID5460439
CID5497196
CID5924240
CID6436030
CID6610270
CID6610346
CID6711160
CID6713081
CID9833581
CID9854379
CID9854380
CID9962926
CID9962928
D00753
DB00877
DE-109
DivK1c_006936
 
FT-0082351
HMS2089A21
HSDB 7284
KBio1_001880
KBio2_000410
KBio2_002978
KBio2_005546
KBio3_000779
KBio3_000780
KBioGR_000410
KBioSS_000410
LCP-Siro
LMPK06000003
LS-143290
MLS000028373
MS-R001
MolMap_000043
MolPort-003-959-433
NCGC00021305-05
NCI60_001851
NCIMech_000355
NSC 226080
NSC226080
Perceiva
QTL1_000069
R0395_SIAL
R0395_SIGMA
RAP
RAPA
RPM
Rapammune
Rapamune
Rapamune (TN)
Rapamycin
Rapamycin (TN)
Rapamycin C-7, analog 4
Rapamycin Immunosuppressant Drug
Rapamycin from Streptomyces hygroscopicus
S1039_Selleck
SIIA 9268A
SILA 9268A
SILA9268A
SMP1_000255
SMR000058564
Sirolimus
Sirolimus (RAPAMUNE)
Sirolimus (USAN/INN)
Sirolimus [USAN:BAN:INN]
Sirolimus, Rapamune,Rapamycin
SpecPlus_000840
UNII-W36ZG6FT64
UNM-0000358684
WY-090217
Wy 090217
heptadecahydro-9,27-dihydroxy-3-[(1R)-2-[(1S,3R,4R)-4-hydroxy
nchembio.100-comp4
nchembio.2007.42-comp2
nchembio.79-comp1
nchembio762-comp1
nchembio883-comp3
rapamycin
sirolimus
41
Miconazoleapproved, investigational, vet_approvedPhase 1370622916-47-84189
Synonyms:
(+-)-1-(2,4-Dichloro-beta-((2,4-dichlorobenzyl)oxy)phenethyl)imidazole
1-(2,4-Dichloro-beta-((2,4-dichlorobenzyl)oxy)phenethyl)imidazole
1-(2,4-dichloro-beta-((2,4-dichlorobenzyl)oxy)phenethyl) imidazole
1-[2,4-Dichloro- beta-([2,4-dichloro- benzyl]oxy)phenethyl]imidazole
1-[2-(2,4-Dichloro-benzyloxy)-2-(2,4-dichloro-phenyl)-ethyl]-1H-imidazole
1-[2-(2,4-Dichlorophenyl)-2-[(2,4-dichlorophenyl)methoxy]ethyl]-1H-imidazole
1-[2-(2,4-dichlorobenzyloxy)-2-(2,4-dichlorophenyl)ethyl]-1H-imidazole
1-[2-(2,4-dichlorophenyl)-2-[(2,4-dichlorophenyl)methoxy]ethyl]imidazole
1-[2-(2,4-dichlorophenyl)-2-{[(2,4-dichlorophenyl)methyl]oxy}ethyl]-1H-imidazole
1-{2-[(2,4-dichlorobenzyl)oxy]-2-(2,4-dichlorophenyl)ethyl}-1H-imidazole
22832-87-7 (NITRATE)
22916-47-8
75319-47-0
AB00053500
AC1L1HM1
AKOS001574474
Aflorix(nitrate)
Albistat(nitrate)
Andergin(nitrate)
BPBio1_000279
BRD-A82396632-001-03-0
BRD-A82396632-008-02-7
BRN 0965511
BSPBio_000253
BSPBio_002033
CCRIS 7924
CHEBI:6923
CHEMBL91
CID4189
CPD-4501
Conofite(nitrate)
D00416
DB01110
Dactarin
Daktarin IV
Daktarin iv
DivK1c_000156
EINECS 245-324-5
Epi-Monistat(nitrate)
Femizol-M
Florid(nitrate)
Gyno-Daktar(nitrate)
HMS1568M15
HMS2090B21
I14-14342
IDI1_000156
Imidazole, 1-(2-(2,4-dichlorophenyl)-2-((2,4-dichlorophenyl)methoxy)ethyl)- (9CI)
KBio1_000156
KBio2_001445
KBio2_004013
KBio2_006581
KBio3_001533
KBioGR_000581
KBioSS_001445
LS-78378
Lotrimin AF(nitrate)
MCZ
MJR 1762
MLS002222203
Micantin (nitrate)
Miconasil Nitrate
 
Miconazol
Miconazol [INN-Spanish]
Miconazole
Miconazole (JP15/USP/INN)
Miconazole 3
Miconazole 3 Combination Pack
Miconazole 7 Combination Pack
Miconazole [USAN:BAN:INN:JAN]
Miconazole nitrate salt
Miconazole-7
Miconazolo
Miconazolo [DCIT]
Miconazolum
Miconazolum [INN-Latin]
Micozole
Minostate
MolPort-002-557-553
Monazole 7
Monista (nitrate)
Monistat
Monistat (TN)
Monistat 1 Combination Pack
Monistat 3 Dual-Pak
Monistat 3 Vaginal Ovules
Monistat 5 Tampon
Monistat 7 Dual-Pak
Monistat 7 Vaginal Suppositories
Monistat Dual- PAK
Monistat IV
Monistat iv (TN)
Monistat iv (tn)
Monistat-Derm
NCI60_001353
NCI60_001380
NINDS_000156
NSC 170986
NSC169434
NSC170986
Novo-Miconazole Vaginal Ovules
Oprea1_091955
Prestwick0_000067
Prestwick1_000067
Prestwick2_000067
Prestwick3_000067
Prestwick_335
R 18134
R-14,889
SMR001307249
SPBio_000976
SPBio_002174
STK834405
STOCK1S-93556
Spectrum2_001048
Spectrum3_000507
Spectrum4_000061
Spectrum5_001297
Spectrum_000965
UNII-7NNO0D7S5M
Vusion
Zimycan
imidazole, 1-(2-(2,4-dichlorophenyl)-2-((2,4-dichlorophenyl) methoxy)ethyl)- (9CI)
miconazole
42
Vinorelbineapproved, investigationalPhase 137471486-22-160780, 44424639
Synonyms:
5'-Noranhydrovinblastine
71486-22-1
AC1L1KVK
AC1L1TWQ
AC1L75Q4
ANX-530
Ambap71486-22-1
BIDD:PXR0186
C45H54N4O8
CHEBI:480999
CHEMBL607994
CID355119
CID5311497
CID5672
CID60780
CID6426842
D08680
DB00361
Eunades
Exelbine
HMS2090E13
HSDB 7665
I06-0084
I06-0085
KW 2307
KW 2307 base
KW-2307
 
LS-97533
MolPort-006-822-661
MolPort-006-823-869
NCGC00165966-02
NVB
Navelbine
Navelbine (TN)
Navelbine Base
Navelbine base
Nor-5'-anhydrovinblastine
SDP-012
UNII-Q6C979R91Y
Vinorelbin
Vinorelbina
Vinorelbina [Spanish]
Vinorelbine
Vinorelbine (INN)
Vinorelbine Bitartrate
Vinorelbine Ditartarate
Vinorelbine Ditartrate
Vinorelbine Tartrate
Vinorelbine [INN:BAN]
Vinorelbine ditartrate
Vinorelbine tartrate
Vinorelbinum
Vinorelbinum [Latin]
methyl (2b,3b,4b,5a,12b,19a)-4-(acetyloxy)-15-[(6R,8S)-4-ethyl-8-(methoxycarbonyl)-1,3,6,7,8,9-hexahydro-2,6-methanoazecino[4,3-b]indol-8-yl]-3-hydroxy-16-methoxy-1-methyl-6,7-didehydroaspidospermidine-3-carboxylate
methyl (2beta,3beta,4beta,5alpha,12beta,19alpha)-4-acetoxy-15-[(6R,8S)-4-ethyl-8-(methoxycarbonyl)-1,3,6,7,8,9-hexahydro-2,6-methanoazecino[4,3-b]indol-8-yl]-3-hydroxy-16-methoxy-1-methyl-6,7-didehydroaspidospermidine-3-carboxylate
vinorelbine
43
VinblastineapprovedPhase 1420865-21-413342, 241903
Synonyms:
(2ALPHA,2'BETA,3BETA,4ALPHA,5BETA)-VINCALEUKOBLASTINE
(2xi,3beta,4'beta,19xi)-vincaleukoblastine
(3aR-(3aalpha,4beta,5beta,5abeta,9(3R*,5S*,7R*,9S*),10bR*,13aalpha))-methyl 4-(acetyloxy)-3a-ethyl-9-(5-ethyl-1,4,5,6,7,8,9,10-octahydro-5-hydroxy-9-(methoxycarbonyl)-2H-3,7-methanoazacycloundecino(5,4-b)indol-9-yl)-3a,4,5,5a,6,11,12,13a-octahydro-5-hydroxy-8-methoxy-6-methyl-1H-indolizino(8,1-cd)carbazole-5-carboxylate
143-67-9
1z2b
29060-LE
865-21-4
AC-20335
AC1L21JC
AC1L68D2
AC1MXZJ2
BIDD:PXR0201
BRD-K01188359-065-02-5
BSPBio_001228
BSPBio_003594
Bio-0111
C07201
C46H58N4O9
CCRIS 9002
CHEBI:171516
CHEBI:27375
CHEMBL159
CHEMBL607706
CID13342
CID241903
CID3823887
CID6710780
D08675
DB00570
EINECS 212-734-0
HMS2090K05
HSDB 3263
KBio3_003033
LS-1859
LS-187263
MolPort-002-518-262
 
MolPort-005-910-359
NCGC00022585-04
NCGC00181127-01
NCI-C04842
NCI60_004200
NChemBio.2007.10-comp22
NDC 0002-1452-01
NSC 47842
Neuro_000020
Nincaluicolflastine
Rozevin
SPBio_000680
STOCK1N-38480
Spectrum2_000890
Spectrum3_001994
UNII-5V9KLZ54CY
VLB
VR-8
Velban
Velbe
Vinblastin
Vinblastina
Vinblastina (TN)
Vinblastina [DCIT]
Vinblastina [Dcit]
Vinblastine
Vinblastine (INN)
Vinblastine Sulfate
Vinblastine [INN:BAN]
Vinblastinum
Vinblastinum [INN-Latin]
Vincaleucoblastin
Vincaleucoblastine
Vincaleukoblastine
Vincoblastine
nchembio873-comp22
vinblastine
44
EverolimusapprovedPhase 11940159351-69-66442177
Synonyms:
(1R,9S,12S,15R,16E,18R,19R,21R,23S,24E,26E,28E,30S,32S,35R)-1,18-Dihydroxy-12-((1R)-2-((1S,3R,4R)-4-(2-hydroxyethoxy)-3-methoxycyclohexyl)-1-methylethyl)-19,30-dimethoxy-15,17,21,23,29,35-hexamethyl-11,36-dioxa-4-azatricyclo(30.3.1.0(sup 4,9))hexatriaconta-16,24,26,28-tetraene-2,3,10,14,20-pentaone
(1R,9S,12S,15R,16E,18R,19R,21R,23S,24E,26E,28E,30S,32S,35R)-1,18-Dihydroxy-12-((1R)-2-((1S,3R,4R)-4-(2-hydroxyethoxy)-3-methoxycyclohexyl)-1-methylethyl)-19,30-dimethoxy-15,17,21,23,29,35-hexamethyl-11,36-dioxa-4-azatricyclo(30.3.1.04,9)hexatriaconta-16,24,26,28-tetraene-2,3,10,14,20-pentaone
(1R,9S,12S,15R,16E,23S,18R,19R,21R,23S,24E,26E,28E,30S,32S,35R)-1,18-dihydroxy-12-((1R)-2-((1S,3R,4R)-4-(2-hydroxyethoxy)-3-methoxycyclohexyl)-1-methylethyl)-19,30-dimethoxy-15,17,21,23,29,35-hexamethyl-11,36-dioxa-4-azatricyclo(30.3.1.0(sup 4,9))hexatriacont
(3S,6R,7E,9R,10R,12R,14S,15E,17E,19E,21S,23S,26R,27R,34aS)-9,10,12,13,14,21,22,23,24,25,26,27,32,33,34,34a-Hexadecahydro-9,27-dihydroxy-3-((1R)-2-((1S,3R,4R)-4-(2-hydroxyethoxy)-3-methoxycyclohexyl)-1-methylethyl)-10,21-dimethoxy-6,8,12,14,20,26-hexamethyl-23,27-epoxy-3H-pyrido(2,1-c)(1,4)oxaazacyclohentriacontine-1,5,11,28,29(4H,6H,31H)-pentone
(3S,6R,7E,9R,10R,12R,14S,15E,17E,19E,21S,23S,26R,27R,34aS)-9,27-dihydroxy-3-{(2R)-1-[(1S,3R,4R)-4-(2-hydroxyethoxy)-3-methoxycyclohexyl]propan-2-yl}-10,21-dimethoxy-6,8,12,14,20,26-hexamethyl-9,10,12,13,14,21,22,23,24,25,26,27,32,33,34,34a-hexadecahydro-3H-23,27-epoxypyrido[2,1-c][1,4]oxazacyclohentriacontine-1,5,11,28,29(4H,6H,31H)-pentone
(3S,6R,7E,9R,10R,12R,14S,15E,17E,19E,21S,23S,26R,27R,34as)-9,10,12,13,14,21,22,23,24,25,26,27,32,33,34,34a-hexadecahydro-9,27-dihydroxy-3-((1R)-2-((1S,3R,4R)-4-(2-hydroxyethoxy)-3-methoxycyclohexyl)-1-methylethyl)-10,21-dimethoxy-6,8,12,14,20,26-hexamethy
07741_FLUKA
159351-69-6
40-O-(2-hydroxyethyl)-rapamycin
42-O-(2-Hydroxyethyl)rapamycin
Afinitor
CERTICAN(R)
CHEMBL1201755
Certican
D02714
DB01590
 
Everolimus
Everolimus (JAN/USAN/INN)
Everolimus [USAN]
LS-143292
MolPort-003-847-342
MolPort-003-925-588
NCGC00167512-01
NVP-RAD-001
RAD 001
RAD-001
RAD-001C
RAD001
RAD001, SDZ-RAD, Certican, Zortress, Afinitor, Everolimus
S1120_Selleck
SDZ-RAD
UNII-9HW64Q8G6G
Zortress
everolimus
45
CisplatinapprovedPhase 1277015663-27-184093, 441203, 2767
Synonyms:
(SP-4-1)-diamminedichloridoplatinum
(SP-4-1)-diamminedichloroplatinum
(SP-4-2)-diamminedichloridoplatinum
(SP-4-2)-diamminedichloroplatinum
Abiplatin
Biocisplatinum
Briplatin
CACP
CDDP
CHEBI:35852
CID441203
CPD0-1392
CPDC
CPDD
Carboquone
Cis Pt II
Cis-DDP
Cis-Diaminedichloroplatinum
Cis-Diamminedichloroplatinum
Cismaplat
Cisplatine
Cisplatino
Cisplatinum
Cisplatyl
Citoplationo
DB00515
DDP
DDPT
Diamminedichloroplatinum
 
EU-0100918
Lederplatin
Neoplatin
Peyrone's chloride
Peyrone's salt
Plastin
Platamine
Platiblastin
Platidiam
Platinex
Platinol
Platinol-AQ
Platinoxan
Platinum Ammine Chloride
Platinum Ammonium Chloride
Platinum Diamine Dichloride
Randa
Trans-DDP
Trans-Diaminedichloroplatinum
Trans-Diamminedichloroplatinum
Trans-Dichlorodiammine Platinum
Trans-Platinumdiammine Dichloride
cis-DDP
cis-Diamminedichloroplatinum
cis-Dichlorodiammineplatinum(II)
cis-[PtCl2(NH3)2]
cis-diamminedichloridoplatinum(II)
cis-diamminedichloroplatinum(II)
nchembio773-comp1
trans-diamminedichloridoplatinum(II)
46
VeliparibinvestigationalPhase 199912444-00-911960529
Synonyms:
(2R)-2-(7-carbamoyl-1H-benzimidazol-2-yl)-2-methylpyrrolidinium
2-((2R)-2-methylpyrrolidin-2-yl)-1H-benzimidazole-4-carboxamide
 
ABT 888
ABT-888
veliparib
47Anti-Infective AgentsPhase 122062
48Antifungal AgentsPhase 13696
49
Ethanolapproved213764-17-5702
Synonyms:
(C6-C9)Alkyl alcohol
02483_FLUKA
02851_FLUKA
02853_FLUKA
02854_FLUKA
02855_FLUKA
02856_FLUKA
02856_SIAL
02857_FLUKA
02857_SIAL
02858_FLUKA
02858_SIAL
02860_FLUKA
02865_FLUKA
02865_SIAL
02870_FLUKA
02870_SIAL
02875_FLUKA
02877_FLUKA
02878_FLUKA
02882_FLUKA
02882_SIAL
02883_FLUKA
02884_FLUKA
02890_FLUKA
02890_SIAL
02891_FLUKA
02891_SIAL
1-Hydroxyethane
100C.NPA
121182-78-3
187380_ALDRICH
187380_SIAL
24102_RIEDEL
24102_SIAL
24103_RIEDEL
24103_SIAL
24105_RIEDEL
24105_SIAL
24106_RIEDEL
24106_SIAL
24194_RIEDEL
24194_SIAL
245119_ALDRICH
245119_SIAL
270741_ALDRICH
270741_SIAL
277649_ALDRICH
277649_SIAL
2858_SIGMA
29221_FLUKA
32205_RIEDEL
32205_SIAL
32221_RIEDEL
32221_SIAL
32294_RIEDEL
32294_SIAL
34870_SIAL
34963_RIEDEL
39278_FLUKA
40210_ALDRICH
40210_RIEDEL
41322_FLUKA
458600_ALDRICH
458600_SIAL
459828_ALDRICH
459828_SIAL
459836_ALDRICH
459836_SIAL
459844_SIAL
48075_SUPELCO
493511_SIAL
493538_ALDRICH
493538_SIAL
493546_ALDRICH
493546_SIAL
64-17-5
676829_SIAL
68475-56-9
71076-86-3
71329-38-9
8000-16-6
8024-45-1
AC1L19TW
AC1Q31MM
AHD 2000
AI3-01706
ALCOHOL 5% IN D5-W
Absolute Alcohol
Absolute Ethanol
Absolute alcohol
Absolute ethanol
Absolute ethyl alcohol
Aethanol
Aethanol [German]
Aethylalkohol
Alcare Hand Degermer
Alcohol
Alcohol (USP)
Alcohol (ethyl)
Alcohol Anhydrous
Alcohol [USP]
Alcohol anhydrous
Alcohol dehydrated
Alcohol denatured
Alcohol etílico
Alcohol, Absolute
Alcohol, Dehydrated
Alcohol, Diluted
Alcohol, Grain
Alcohol, anhydrous
Alcohol, dehydrated
Alcohol, denatured
Alcohol, diluted
Alcohol, ethyl
Alcohols
Alcohols, C1-3
Alcohols, C30
Alcohols, C6-9
Alcool Ethylique
Alcool Etilico
Alcool ethylique
Alcool etilico
Alcool éthylique
Algrain
Alkohol
Alkohol [German]
Alkoholu Etylowego
Alkoholu etylowego
Aminoethanol
Anhydrol
Anhydrol PM 4085
Anhydrous alcohol
Anhydrous ethanol
Beta-Aminoethanol
Beta-Aminoethyl Alcohol
Beta-Ethanolamine
Beta-Hydroxyethylamine
C00469
C2H5OH
C2H6O
CCRIS 945
CDA 19
CDA 19-200
CHEBI:16236
CHEMBL545
CID702
Caswell No. 426
Caswell No. 430
Colamine
Cologne Spirit
Cologne spirit
Cologne spirits
 
D000431
D00068
DB00898
Dehydrated Ethanol
Dehydrated alcohol
Dehydrated ethanol
Denatured Alcohol
Denatured Alcohol Cd-10
Denatured Alcohol Cd-5
Denatured Alcohol Cd-5a
Denatured Alcohol Sd-1
Denatured Alcohol Sd-13a
Denatured Alcohol Sd-17
Denatured Alcohol Sd-23a
Denatured Alcohol Sd-28
Denatured Alcohol Sd-30
Denatured Alcohol Sd-39b
Denatured Alcohol Sd-39c
Denatured Alcohol Sd-3a
Denatured Alcohol Sd-40m
Denatured Ethanol
Denatured alcohol
Denatured ethanol
Desinfektol EL
Diluted Alcohol
Distilled spirits
E2385_SIGMA
E7023_ALDRICH
E7023_SIAL
E7148_ALDRICH
E7148_SIAL
E7517_SIGMA
EINECS 200-578-6
EINECS 270-649-4
EOH
EOX
ETA
Envision Conditioner Pdd 9020
Esumiru WK 88
EtOH
Etanolo
Etanolo [Italian]
Ethanol (9CI)
Ethanol 200 Proof
Ethanol 200 proof
Ethanol Absolute
Ethanol Absolute Bp
Ethanol Anhydrous
Ethanol Extra Pure
Ethanol Vapor
Ethanol [JAN]
Ethanol solution
Ethanol, Silent Spirit
Ethanol, undenatured
Ethanolum anhydricum
Ethicap
Ethyl Alcohol
Ethyl Alcohol & Water, 10%
Ethyl Alcohol & Water, 20%
Ethyl Alcohol & Water, 30%
Ethyl Alcohol & Water, 40%
Ethyl Alcohol & Water, 5%
Ethyl Alcohol & Water, 50%
Ethyl Alcohol & Water, 60%
Ethyl Alcohol & Water, 70%
Ethyl Alcohol & Water, 80%
Ethyl Alcohol & Water, 95%
Ethyl Alcohol & Water, 96%
Ethyl Alcohol Anhydrous
Ethyl Alcohol, Anhydrous
Ethyl Alcohol, Denatured
Ethyl Hydrate
Ethyl Hydroxide
Ethyl alc
Ethyl alcohol
Ethyl alcohol anhydrous
Ethyl alcohol in alcoholic beverages
Ethyl alcohol usp
Ethyl hydrate
Ethyl hydroxide
Ethylalcohol
Ethylalcohol [Dutch]
Ethylol
Ethylolamine
Ethyloxy Group
Etylowy alkohol
FEMA No. 2419
FEMA Number 2419
Fermentation alcohol
Glycinol
Grain alcohol
HSDB 531
HSDB 82
HYDROXYETHYL GROUP
Hinetoless
Hydroxyethane
I14-12648
IMS 99
Infinity Pure
Jaysol
Jaysol S
LS-1539
LTBB002977
Lux
Methylated Spirit Mineralised
Methylated spirit
Methylcarbinol
MolPort-001-785-844
Molasses alcohol
NCGC00091458-01
NCI-C03134
NSC 85228
NSC85228
Oxydimethylene Group
Potato alcohol
Punctilious ethyl alcohol
Pyro
QMHAIh@
Reagent Alcohol
Ru-Tuss Expectorant
SDA 3A
SDA 40-2
SDM No. 37
SY Fresh M
Sekundasprit
Silent spirit
Spirit
Spirits of wine
Spiritus vini
Spirt
Synasol
Tecsol
Tecsol C
Thanol
Thiofaco M-50
UNII-3K9958V90M
USAF EK-1597
Undenatured Ethanol
WLN: Q2
absolute alcohol
alcohol
alcohol etilico
bmse000297
etanol
ethanol
ethyl alcohol
grain alcohol
nchem.651-comp3c
nchembio.552-comp10
nchembio.94-comp20
spiritus vini
Äthanol
Äthylalkohol
éthanol
50
Pancrelipaseapproved97053608-75-6
Synonyms:
1,4-alpha-D- glucan glucanohydrolase
PA
 
Pancreatic alpha-amylase precursor
Pancrelipase (amylase
lipase
protease)

Interventional clinical trials:

(show top 50)    (show all 69)
idNameStatusNCT IDPhase
1Protexa® Versus TiLoopBra® in Immediate Breast Reconstruction- A Pilot StudyCompletedNCT02562170Phase 4
2Guilford Genomic Medicine Initiative (GGMI)CompletedNCT01372553Phase 4
3Standard Genetic Counseling With or Without a Decision Guide in Improving Communication Between Mothers Undergoing BRCA1/2 Testing and Their Minor-Age ChildrenCompletedNCT00685256Phase 3
4Methods in Education for Breast Cancer GeneticsActive, not recruitingNCT00001806Phase 3
5Letrozole in Preventing Breast Cancer in Postmenopausal Women With a BRCA1 or BRCA2 MutationActive, not recruitingNCT00673335Phase 3
6Trial of Inquiry Based Stress Reduction (IBSR) Program for BRCA1/2 Mutation CarriersNot yet recruitingNCT03162276Phase 3
7Zoledronate or Observation in Maintaining Bone Mineral Density in Patients Who Are Undergoing Surgery to Remove Both OvariesUnknown statusNCT00305695Phase 2
8Search Allelic Imbalance of Expression of BRCA Genes in Hereditary Risk of Breast and/or Ovarian CancerCompletedNCT01333748Phase 2
9Trial of Inquiry Based Stress Reduction (IBSR) Program for BRCA1/2 Mutation CarriersCompletedNCT01367639Phase 2
10Arzoxifene or Tamoxifen in Preventing Breast Cancer in Premenopausal Women at High Risk for Breast CancerCompletedNCT00253539Phase 2
11Carboplatin or Docetaxel in Treating Women With Metastatic Genetic Breast CancerCompletedNCT00321633Phase 2
12The Women Choosing Surgical Prevention (WISP) TrialRecruitingNCT02760849Phase 2
13Neoadjuvant Carboplatin in Triple Negative Breast CancerRecruitingNCT02978495Phase 2
14A Phase II Single Arm Pilot Study of the Chk1/2 Inhibitor (LY2606368) in BRCA1/2 Mutation Associated Breast or Ovarian Cancer, Triple Negative Breast Cancer, High Grade Serous Ovarian Cancer, and Metastatic Castrate-Resistant Prostate CancerRecruitingNCT02203513Phase 2
15PARP-inhibition and CTLA-4 Blockade in BRCA-deficient Ovarian CancerRecruitingNCT02571725Phase 1, Phase 2
16Phase II Study of AZD2281 in Patients With Known BRCA Mutation Status or Recurrent High Grade Ovarian Cancer or Patients With Known BRCA Mutation Status/ Triple Neg Breast CancerActive, not recruitingNCT00679783Phase 2
17Veliparib, Carboplatin, and Paclitaxel in Treating Patients With Advanced Solid CancerCompletedNCT00535119Phase 1
18Temsirolimus and Vinorelbine Ditartrate in Treating Patients With Unresectable or Metastatic Solid TumorsCompletedNCT01155258Phase 1
19Veliparib in Treating Patients With Malignant Solid Tumors That Do Not Respond to Previous TherapyActive, not recruitingNCT00892736Phase 1
20Veliparib, Cisplatin, and Vinorelbine Ditartrate in Treating Patients With Recurrent and/or Metastatic Breast CancerActive, not recruitingNCT01104259Phase 1
21Hypodontia and Ovarian CancerUnknown statusNCT01470235
22Thymidine Kinase 1 in Risk Assessment for Hereditary Breast /Ovarian CancerUnknown statusNCT00855998
23Korean Hereditary Breast Cancer StudyUnknown statusNCT00595348
24Incidence of Cancer in Women at Increased Genetic Risk of Ovarian CancerUnknown statusNCT01139957
25Outcomes After Perforator Flap Reconstruction for Breast Reconstruction and/or Lymphedema TreatmentUnknown statusNCT01273909
26Short Non-coding RNA Biomarkers of Predisposition to Ovarian CancerUnknown statusNCT01187602
27Statewide Communication to Reach Diverse Low Income WomenCompletedNCT02956681
28Attitudes About Childbearing And Fertility With Inherited Breast And Ovarian Cancer Syndromes (HBOC)CompletedNCT00829959
29Telemedicine vs. Face-to-Face Cancer Genetic CounselingCompletedNCT00609505
30Cancer Genetics Hereditary Cancer Panel TestingCompletedNCT02324062
31Risk Education and Assessment for Cancer HeredityCompletedNCT01346761
32Lessons Learned From the Family Gene ToolkitCompletedNCT02154633
33Establishment of Normal Breast Epithelial Cell Lines From Patients at High Risk for Breast CancerCompletedNCT00001496
34Microarray Analysis for Human Genetic DiseaseCompletedNCT00001898
35Lithium Carbonate in Treating Patients With Acute Intestinal Graft-Versus-Host-Disease (GVHD) After Donor Stem Cell TransplantCompletedNCT00408681
36Awareness and Attitudes Regarding Prenatal and Preimplantation Genetic Diagnosis for Inherited Breast/Ovarian Cancer RiskCompletedNCT00735150
37Removal of the Ovaries/Fallopian Tubes and CA-125 Screening to Reduce the Risk of Ovarian Cancer in Women at Increased Genetic RiskCompletedNCT00043472
38Outcomes of Education and Counseling for BRCA1 TestingCompletedNCT00001468
39Adaptation to Living With a BRCA1/2 MutationCompletedNCT01866865
40A Qualitative Exploration of the Impact of Positive BRCA1/2 Mutation Status on the Lives of Young WomenCompletedNCT00858078
41Physicians Survey on Genetic TestingCompletedNCT00341107
42Enhancing At-risk Latina Women's Use of Genetic Counseling for Hereditary Breast and Ovarian CancerRecruitingNCT03075540
43Impact of a Psychoeducational Intervention on Expectations and Coping in Young Women Exposed to a High HBOC RiskRecruitingNCT02705924
44Triple Negative Breast Cancer and Germline Hereditary Breast and Ovarian Cancer Mutation Carrier RegistryRecruitingNCT02302742
45Efficacy of Lifestyle Intervention in BRCA1/2 Mutation CarriersRecruitingNCT02516540
46Cascade Genetic Testing for Hereditary Breast/Ovarian Cancer and Lynch Syndrome in SwitzerlandRecruitingNCT03124212
47Familial Cancer Registry and DNA BankRecruitingNCT02083224
48Cluster Randomized Trial Comparing Interventions to Enhance Genetic Counseling Among Breast Cancer PatientsRecruitingNCT01789684
49Familial Investigations of Childhood Cancer PredispositionRecruitingNCT03050268
50Pancreatic Cancer GeneticsRecruitingNCT01102569

Search NIH Clinical Center for Hereditary Breast Ovarian Cancer


Cochrane evidence based reviews: hereditary breast and ovarian cancer syndrome

Genetic Tests for Hereditary Breast Ovarian Cancer

About this section

Genetic tests related to Hereditary Breast Ovarian Cancer:

id Genetic test Affiliating Genes
1 Hereditary Breast and Ovarian Cancer Syndrome27
2 Breast/ovarian Cancer, Hereditary24

Anatomical Context for Hereditary Breast Ovarian Cancer

About this section

MalaCards organs/tissues related to Hereditary Breast Ovarian Cancer:

36
Breast, Testes, Ovary, Heart

Publications for Hereditary Breast Ovarian Cancer

About this section

Articles related to Hereditary Breast Ovarian Cancer:

(show top 50)    (show all 75)
idTitleAuthorsYear
1
Accelerated geroncogenesis in hereditary breast-ovarian cancer syndrome. (26943589)
2016
2
Analysis of Founder Mutations in Rare Tumors Associated With Hereditary Breast/Ovarian Cancer Reveals a Novel Association of BRCA2 Mutations with Ampulla of Vater Carcinomas. (27532258)
2016
3
MA1llerian intra-abdominal carcinomatosis in hereditary breast ovarian cancer syndrome: implications for risk-reducing surgery. (26875157)
2016
4
Patient and genetic counselor perceptions of in-person versus telephone genetic counseling for hereditary breast/ovarian cancer. (26969308)
2016
5
Modeling the dyadic effects of parenting, stress, and coping on parent-child communication in families tested for hereditary breast-ovarian cancer risk. (26848859)
2016
6
RAD51C mutation screening in high-risk patients from Serbian hereditary breast/ovarian cancer families. (26406419)
2015
7
Should risk-reducing surgery in women from hereditary breast ovarian cancer families be confined to removal of the fallopian tubes with ovarian conservation? (26246179)
2015
8
Endometrial cancers in mutation carriers from hereditary breast ovarian cancer syndrome kindreds: report from the creighton university hereditary cancer registry with review of the implications. (25756400)
2015
9
BRCA Mutations Increase Fertility in Families at Hereditary Breast/Ovarian Cancer Risk. (26047126)
2015
10
The role of targeted BRCA1/BRCA2 mutation analysis in hereditary breast/ovarian cancer families of Portuguese ancestry. (24916970)
2014
11
The counselees' self-reported request for psychological help in genetic counseling for hereditary breast/ovarian cancer: not only psychopathology matters. (22740372)
2013
12
Hereditary breast/ovarian cancer syndrome: a primer for obstetricians/gynecologists. (24021253)
2013
13
Genetic counseling does not fulfill the counselees' need for certainty in hereditary breast/ovarian cancer families: an explorative assessment. (22777929)
2013
14
Analysis of PALB2 gene in BRCA1/BRCA2 negative Spanish hereditary breast/ovarian cancer families with pancreatic cancer cases. (23935836)
2013
15
BRCA1 and BRCA2 germline mutation spectrum in hereditary breast/ovarian cancer families from Maghrebian countries. (23697973)
2012
16
Adverse childhood experiences of persons at risk for Huntington's disease or BRCA1/2 hereditary breast/ovarian cancer. (21895638)
2012
17
Comprehensive genetic characterization of hereditary breast/ovarian cancer families from Slovakia. (21203900)
2011
18
Unpacking the blockers: understanding perceptions and social constraints of health communication in hereditary breast ovarian cancer (HBOC) susceptibility families. (21547418)
2011
19
Hereditary breast ovarian cancer syndromes in the Maritimes. (20181317)
2010
20
Coronary heart disease risk profile in women who underwent salpingo-oophorectomy to prevent hereditary breast ovarian cancer. (20169665)
2010
21
Hereditary breast-ovarian cancer syndrome in Russia. (22649661)
2010
22
Founder BRCA1/2 mutations in the Europe: implications for hereditary breast-ovarian cancer prevention and control. (23199084)
2010
23
Metabolic syndrome after risk-reducing salpingo-oophorectomy in women at high risk for hereditary breast ovarian cancer: a controlled observational study. (19008092)
2009
24
The prevalence of hereditary breast/ovarian cancer risk in patients with a history of breast or ovarian cancer in Japanese subjects. (20149041)
2009
25
A controlled study of mental distress and somatic complaints after risk-reducing salpingo-oophorectomy in women at risk for hereditary breast ovarian cancer. (19178933)
2009
26
Brief assessment of parents' attitudes toward testing minor children for hereditary breast/ovarian cancer genes: development and validation of the Pediatric BRCA1/2 Testing Attitudes Scale (P-TAS). (18385162)
2009
27
Fatigue and quality of life after risk-reducing salpingo-oophorectomy in women at increased risk for hereditary breast-ovarian cancer. (19820364)
2009
28
BRCA1 and BRCA2 mutations in women of different ethnicities undergoing testing for hereditary breast-ovarian cancer. (19241424)
2009
29
Founder mutations account for the majority of BRCA1-attributable hereditary breast/ovarian cancer cases in a population from Tuscany, Central Italy. (18821011)
2009
30
Identification and management of women at high risk for hereditary breast/ovarian cancer syndrome. (19292801)
2009
31
Cross-sectional analysis of germline BRCA1 and BRCA2 mutations in Japanese patients suspected to have hereditary breast/ovarian cancer. (19016756)
2008
32
Coordinated prophylactic surgical management for women with hereditary breast-ovarian cancer syndrome. (18410690)
2008
33
BRCA1 and BRCA2 risk perceptions among African American women at increased risk for hereditary breast-ovarian cancer. (18417966)
2008
34
Hereditary breast/ovarian cancer: clinicopathological characteristics and survival of BRCA2 positive and negative cases. (19066131)
2008
35
Psychological and cancer-specific distress at 18 months post-testing in women with demonstrated BRCA1 mutations for hereditary breast/ovarian cancer. (18219587)
2008
36
Hereditary breast-ovarian cancer: clinical findings and medical management. (17901820)
2007
37
Individualized preventive and therapeutic management of hereditary breast ovarian cancer syndrome. (17898808)
2007
38
A novel BRCA1 mutation in an Indian family with hereditary breast/ovarian cancer. (17131039)
2007
39
Patient responses to the disclosure of BRCA mutation tests in hereditary breast-ovarian cancer families. (16527602)
2006
40
Acceptance of genetic testing for hereditary breast ovarian cancer among study enrollees from an African American kindred. (16523520)
2006
41
Germline mutations of BRCA1 in two Korean hereditary breast/ovarian cancer families. (16465413)
2006
42
Low rates of acceptance of BRCA1 and BRCA2 test results among African American women at increased risk for hereditary breast-ovarian cancer. (16980814)
2006
43
Surveillance behavior and prophylactic surgery after predictive testing for hereditary breast/ovarian cancer. (16252621)
2005
44
Re: "Intra-abdominal carcinomatosis after prophylactic oophorectomy in women of hereditary breast ovarian cancer syndrome kindreds associated with BRCA1 and BRCA2 mutations". (16188301)
2005
45
The effect of experiential knowledge on construction of risk perception in hereditary breast/ovarian cancer. (15789156)
2005
46
Clinical, molecular and geographical features of hereditary breast/ovarian cancer in latvia. (20223033)
2005
47
Decision making and decision support for hereditary breast-ovarian cancer susceptibility. (16045423)
2005
48
Hereditary Breast-Ovarian Cancer Team of the University Medical Centre Groningen (UMCG) - a Report. (20223045)
2005
49
Intra-abdominal carcinomatosis after prophylactic oophorectomy in women of hereditary breast ovarian cancer syndrome kindreds associated with BRCA1 and BRCA2 mutations. (15863145)
2005
50
Prevalence of five previously reported and recurrent BRCA1 genetic rearrangement mutations in 20,000 patients from hereditary breast/ovarian cancer families. (15846789)
2005

Variations for Hereditary Breast Ovarian Cancer

About this section

Clinvar genetic disease variations for Hereditary Breast Ovarian Cancer:

5 (show all 799)
id Gene Variation Type Significance SNP ID Assembly Location
1BRCA1NM_ 007294.3(BRCA1): c.1812delA (p.Ala605Hisfs)deletionPathogenicrs80357927GRCh37Chr 17, 41245736: 41245736
2BRCA1NM_ 007294.3(BRCA1): c.2077_ 2078insTA (p.Asp693Valfs)insertionPathogenicrs80357595GRCh38Chr 17, 43093453: 43093454
3BRCA1NM_ 007294.3(BRCA1): c.4676-1G> ASNVPathogenic/ Likely pathogenicrs80358008GRCh38Chr 17, 43071239: 43071239
4BRCA1NM_ 007294.3(BRCA1): c.4676-2A> GSNVPathogenic/ Likely pathogenicrs80358096GRCh38Chr 17, 43071240: 43071240
5BRCA1NM_ 007294.3(BRCA1): c.5468-1G> ASNVPathogenic/ Likely pathogenicrs80358048GRCh38Chr 17, 43045803: 43045803
6BRCA1NM_ 007294.3(BRCA1): c.456_ 457delCA (p.Ser153Cysfs)deletionPathogenicrs80357882GRCh37Chr 17, 41251882: 41251883
7BRCA2NM_ 000059.3(BRCA2): c.891_ 899delAACAGTTGTinsGATACTTCAG (p.Thr298Ilefs)indelPathogenicrs276174914GRCh38Chr 13, 32332369: 32332377
8BRCA2NM_ 000059.3(BRCA2): c.1408dupG (p.Glu470Glyfs)duplicationPathogenicrs80359284GRCh37Chr 13, 32907023: 32907023
9BRCA2NM_ 000059.3(BRCA2): c.4131_ 4132insTGAGGA (p.Thr1378_ Gly1712delinsTer)insertionPathogenicrs80359429GRCh38Chr 13, 32338486: 32338487
10BRCA2NM_ 000059.3(BRCA2): c.5270_ 5286del17 (p.Tyr1757Serfs)deletionPathogenicrs80359502GRCh37Chr 13, 32913762: 32913778
11BRCA2NM_ 000059.3(BRCA2): c.489_ 490insG (p.Leu164Valfs)insertionPathogenicrs120074205GRCh38Chr 13, 32326255: 32326256
12BRCA2NM_ 000059.3(BRCA2): c.7977-1G> TSNVPathogenicrs81002874GRCh37Chr 13, 32937315: 32937315
13BRCA2NM_ 000059.3(BRCA2): c.8745_ 8748dupTTAC (p.Glu2918Profs)duplicationPathogenicrs80359727GRCh38Chr 13, 32376782: 32376785
14BRCA2NM_ 000059.3(BRCA2): c.9672dupA (p.Tyr3225Ilefs)duplicationPathogenicrs80359773GRCh37Chr 13, 32972322: 32972322
15BRCA2NM_ 000059.3(BRCA2): c.(?_ -1)_ 67+?deldeletionPathogenicGRCh37Chr 13, 32890470: 32890470
16BRCA1NM_ 007294.3(BRCA1): c.2506delG (p.Glu836Lysfs)deletionPathogenicrs587780798GRCh37Chr 17, 41245042: 41245042
17BRCA1NM_ 007294.3(BRCA1): c.3874delT (p.Ser1292Leufs)deletionPathogenicrs587780802GRCh37Chr 17, 41243674: 41243674
18BRCA1NM_ 007294.3(BRCA1): c.81-2A> CSNVPathogenicrs397509326GRCh37Chr 17, 41267798: 41267798
19BRCA1NM_ 007294.3(BRCA1): c.512dupT (p.Gln172Thrfs)duplicationPathogenicrs587781487GRCh37Chr 17, 41251827: 41251827
20BRCA2NM_ 000059.3(BRCA2): c.7877G> A (p.Trp2626Ter)SNVPathogenicrs587781506GRCh37Chr 13, 32936731: 32936731
21BRCA2NM_ 000059.3(BRCA2): c.1909+1G> ASNVPathogenic/ Likely pathogenicrs587781629GRCh38Chr 13, 32333388: 32333388
22BRCA2NM_ 000059.3(BRCA2): c.5159C> A (p.Ser1720Ter)SNVPathogenicrs80358740GRCh37Chr 13, 32913651: 32913651
23BRCA2NM_ 000059.3(BRCA2): c.476-4_ 476-1delCCAGinsTindelLikely pathogenicrs587782880GRCh38Chr 13, 32326238: 32326241
24BRCA2NM_ 000059.3(BRCA2): c.5715dupT (p.Asn1906Terfs)duplicationPathogenicrs587782901GRCh37Chr 13, 32914207: 32914207
25BRCA1NM_ 007294.3(BRCA1): c.4468G> T (p.Glu1490Ter)SNVPathogenicrs138608489GRCh37Chr 17, 41228521: 41228521
26BRCA1NM_ 007294.3(BRCA1): c.4358-2786G> ASNVLikely pathogenicrs374435098GRCh37Chr 17, 41231417: 41231417
27BRCA1NM_ 007294.3(BRCA1): c.181T> G (p.Cys61Gly)SNVPathogenicrs28897672GRCh37Chr 17, 41258504: 41258504
28BRCA1NM_ 007294.3(BRCA1): c.68_ 69delAG (p.Glu23Valfs)deletionPathogenicrs80357783GRCh37Chr 17, 41276047: 41276048
29BRCA1NM_ 007294.3(BRCA1): c.1175_ 1214del40 (p.Leu392Glnfs)deletionPathogenicrs80359874GRCh37Chr 17, 41246334: 41246373
30BRCA1NM_ 007294.3(BRCA1): c.2681_ 2682delAA (p.Lys894Thrfs)deletionPathogenicrs80357971GRCh37Chr 17, 41244866: 41244867
31BRCA1NM_ 007294.3(BRCA1): c.3005delA (p.Asn1002Thrfs)deletionPathogenicrs80357601GRCh37Chr 17, 41244543: 41244543
32BRCA1NM_ 007294.3(BRCA1): c.3607C> T (p.Arg1203Ter)SNVPathogenicrs62625308GRCh37Chr 17, 41243941: 41243941
33BRCA1NM_ 007294.3(BRCA1): c.3748G> T (p.Glu1250Ter)SNVPathogenicrs28897686GRCh37Chr 17, 41243800: 41243800
34BRCA1NM_ 007294.3(BRCA1): c.3756_ 3759delGTCT (p.Ser1253Argfs)deletionPathogenicrs80357868GRCh37Chr 17, 41243789: 41243792
35BRCA1NM_ 007294.3(BRCA1): c.4065_ 4068delTCAA (p.Asn1355Lysfs)deletionPathogenicrs80357508GRCh37Chr 17, 41243480: 41243483
36BRCA1NM_ 007294.3(BRCA1): c.4327C> T (p.Arg1443Ter)SNVPathogenicrs41293455GRCh37Chr 17, 41234451: 41234451
37BRCA1NM_ 007294.3(BRCA1): c.5266dupC (p.Gln1756Profs)duplicationPathogenicrs80357906GRCh37Chr 17, 41209082: 41209082
38BRCA1NM_ 007294.3(BRCA1): c.843_ 846delCTCA (p.Ser282Tyrfs)deletionPathogenicrs80357919GRCh37Chr 17, 41246702: 41246705
39BRCA1NM_ 007294.3(BRCA1): c.3481_ 3491delGAAGATACTAG (p.Glu1161Phefs)deletionPathogenicrs80357877GRCh37Chr 17, 41244057: 41244067
40BRCA1NM_ 007294.3(BRCA1): c.211A> G (p.Arg71Gly)SNVPathogenic/ Likely pathogenicrs80357382GRCh37Chr 17, 41258474: 41258474
41BRCA1NM_ 007294.3(BRCA1): c.5324T> G (p.Met1775Arg)SNVPathogenicrs41293463GRCh37Chr 17, 41203088: 41203088
42BRCA2NM_ 000059.3(BRCA2): c.3172A> T (p.Lys1058Ter)SNVPathogenicrs730881521GRCh38Chr 13, 32337527: 32337527
43BRCA2NM_ 000059.3(BRCA2): c.8174G> A (p.Trp2725Ter)SNVPathogenicrs730881581GRCh38Chr 13, 32363376: 32363376
44BRCA2NM_ 000059.3(BRCA2): c.9891_ 9894dupATTT (p.Gln3299Ilefs)duplicationPathogenicrs730881619GRCh38Chr 13, 32398404: 32398407
45BRCA2NM_ 000059.3(BRCA2): c.3347_ 3348insTA (p.Leu1118Tyrfs)insertionPathogenicrs730882134GRCh38Chr 13, 32337702: 32337703
46BRCA2NM_ 000059.3(BRCA2): c.7301delA (p.Lys2434Serfs)deletionPathogenicrs786202441GRCh37Chr 13, 32929291: 32929291
47BRCA1NM_ 007294.3(BRCA1): c.5153-2A> GSNVPathogenic/ Likely pathogenicrs786202545GRCh37Chr 17, 41215392: 41215392
48MRE11NM_ 005591.3(MRE11): c.2070+2T> ASNVLikely pathogenicrs786202801GRCh37Chr 11, 94163075: 94163075
49ATMNM_ 000051.3(ATM): c.8977C> T (p.Arg2993Ter)SNVPathogenic/ Likely pathogenicrs770641163GRCh37Chr 11, 108235935: 108235935
50BRCA1NM_ 007294.3(BRCA1): c.3066delA (p.Val1023Terfs)deletionPathogenicrs786202906GRCh37Chr 17, 41244482: 41244482
51BRCA2NM_ 000059.3(BRCA2): c.9352_ 9353delAT (p.Met3118Valfs)deletionPathogenicrs786203318GRCh37Chr 13, 32968921: 32968922
52BRCA1NM_ 007294.3(BRCA1): c.3481G> T (p.Glu1161Ter)SNVPathogenicrs786203438GRCh37Chr 17, 41244067: 41244067
53BRCA1NM_ 007294.3(BRCA1): c.5359_ 5363delTGTGGinsAGTGA (p.Cys1787_ Gly1788delinsSerAsp)indelPathogenicrs786203663GRCh37Chr 17, 41201181: 41201185
54BRCA1NM_ 007294.3(BRCA1): c.4186-?_ 4357+?dup172duplicationPathogenicGRCh37Chr 17, 41234421: 41234592
55BRCA1NM_ 007294.3(BRCA1): c.5278-?_ 5467+?deldeletionPathogenicGRCh37Chr 17, 41199660: 41203134
56BRCA2NM_ 000059.3(BRCA2): c.4691dupC (p.Thr1566Aspfs)duplicationPathogenicrs786204209GRCh37Chr 13, 32913183: 32913183
57BRCA2NM_ 000059.3(BRCA2): c.517-?_ 631+?deldeletionPathogenic
58BRCA1NM_ 007294.3(BRCA1): c.1240dupG (p.Asp414Glyfs)duplicationPathogenicrs786204260GRCh37Chr 17, 41246308: 41246308
59BRCA1NM_ 007294.3(BRCA1): c.885_ 886delCA (p.Asp295Glufs)deletionPathogenicrs786204261GRCh37Chr 17, 41246662: 41246663
60BRCA1NM_ 007294.3(BRCA1): c.892_ 895dupAATG (p.Val299Glufs)duplicationPathogenicrs80357806GRCh37Chr 17, 41246653: 41246656
61BRCA1NM_ 007294.3(BRCA1): c.984_ 988delTAATG (p.Cys328Terfs)deletionPathogenicrs786204262GRCh37Chr 17, 41246560: 41246564
62BRCA1NM_ 007294.3(BRCA1): c.2298dupT (p.Ser767Terfs)duplicationPathogenicrs786204264GRCh38Chr 17, 43093233: 43093233
63BRCA1NM_ 007294.3(BRCA1): c.4358_ 4484del127 (p.Ala1453Glyfs)deletionLikely pathogenicGRCh38Chr 17, 43076488: 43076614
64BRCA1NM_ 007294.3(BRCA1): c.4386dupA (p.Tyr1463Ilefs)duplicationPathogenicrs786204267GRCh38Chr 17, 43076586: 43076586
65BRCA2NM_ 000059.3(BRCA2): c.774_ 775delAA (p.Glu260Serfs)deletionPathogenicrs786204273GRCh38Chr 13, 32331011: 32331012
66BRCA2NM_ 000059.3(BRCA2): c.6777_ 6778delTG (p.Asn2259Lysfs)deletionPathogenicrs786204279GRCh37Chr 13, 32915269: 32915270
67BRCA2NM_ 000059.3(BRCA2): c.7008-1G> ASNVPathogenic/ Likely pathogenicrs786204280GRCh38Chr 13, 32354860: 32354860
68BRCA2NM_ 000059.3(BRCA2): c.9281C> G (p.Ser3094Ter)SNVPathogenicrs786204283GRCh38Chr 13, 32394713: 32394713
69BRCA2NM_ 000059.3(BRCA2): c.5595_ 5596delATinsC (p.Phe1866Leufs)indelPathogenicrs797044987GRCh37Chr 13, 32914087: 32914088
70BRCA2NM_ 000059.3(BRCA2): c.67+2delTdeletionLikely pathogenicrs863224439GRCh37Chr 13, 32890666: 32890666
71BRCA1NM_ 007294.3(BRCA1): c.4987-?_ 5193+?deldeletionPathogenicGRCh37Chr 17, 41215350: 41219712
72BRCA2NM_ 000059.3(BRCA2): c.1A> G (p.Met1Val)SNVPathogenicrs863224464GRCh37Chr 13, 32890598: 32890598
73BRCA2NM_ 000059.3(BRCA2): c.6022A> T (p.Lys2008Ter)SNVPathogenicrs863224467GRCh38Chr 13, 32340377: 32340377
74BRCA2NM_ 000059.3(BRCA2): c.6842-?_ 7007+?deldeletionPathogenic
75BRCA2NM_ 000059.3(BRCA2): c.7872T> G (p.Tyr2624Ter)SNVPathogenicrs863224468GRCh37Chr 13, 32936726: 32936726
76BRCA2NM_ 000059.3(BRCA2): c.8143A> T (p.Lys2715Ter)SNVPathogenicrs863224469GRCh37Chr 13, 32937482: 32937482
77BRCA2NM_ 000059.3(BRCA2): c.8420C> A (p.Ser2807Ter)SNVPathogenicrs55763607GRCh38Chr 13, 32370490: 32370490
78BRCA1NM_ 007294.3(BRCA1): c.(?_ -1)_ 5074+?deldeletionPathogenicGRCh37Chr 17, 41219625: 41276114
79BRCA1NM_ 007294.3(BRCA1): c.135-?_ 5193+?deldeletionPathogenic
80BRCA1NM_ 007294.3(BRCA1): c.2043dupT (p.Asn682Terfs)duplicationPathogenicrs863224510GRCh37Chr 17, 41245505: 41245505
81BRCA1NM_ 007294.3(BRCA1): c.4186-?_ 5193+?deldeletionPathogenic
82BRCA1NM_ 007294.3(BRCA1): c.4358-?_ 4484+?deldeletionPathogenicGRCh37Chr 17, 41228505: 41228631
83BRCA1NM_ 007294.3(BRCA1): c.4474G> T (p.Gly1492Ter)SNVPathogenicrs863224511GRCh38Chr 17, 43076498: 43076498
84BRCA1NM_ 007294.3(BRCA1): c.4676-?_ 5074+?deldeletionPathogenicGRCh37Chr 17, 41219625: 41223255
85BRCA1NM_ 007294.3(BRCA1): c.490delA (p.Thr164Leufs)deletionPathogenicrs863224512GRCh37Chr 17, 41251849: 41251849
86BRCA1NM_ 007294.3(BRCA1): c.5278-?_ *(1_ ?)deldeletionPathogenicGRCh38Chr 17, 43045677: 43051117
87BRCA2NM_ 000059.3(BRCA2): c.1570_ 1571delAT (p.Met524Aspfs)deletionPathogenicrs863224824GRCh38Chr 13, 32333048: 32333049
88BRCA2NM_ 000059.3(BRCA2): c.4176delT (p.Ala1393Argfs)deletionPathogenicrs863224825GRCh37Chr 13, 32912668: 32912668
89BRCA2NM_ 000059.3(BRCA2): c.4515_ 4525delCTTCCAGGGAC (p.Phe1506Thrfs)deletionPathogenicrs863224827GRCh38Chr 13, 32338870: 32338880
90BRCA2NM_ 000059.3(BRCA2): c.4587dupG (p.Lys1530Glufs)duplicationPathogenicrs745456776GRCh38Chr 13, 32338942: 32338942
91BRCA2NM_ 000059.3(BRCA2): c.7946delC (p.Pro2649Glnfs)deletionPathogenicrs863224828GRCh37Chr 13, 32936800: 32936800
92BRCA1NM_ 007294.3(BRCA1): c.(?_ -1)_ 134+?deldeletionPathogenicGRCh37Chr 17, 41267743: 41276114
93BRCA1NM_ 007294.3(BRCA1): c.(?_ -1)_ 80+?deldeletionPathogenicGRCh37Chr 17, 41276034: 41276114
94BRCA2NM_ 000059.3(BRCA2): c.5016C> G (p.Tyr1672Ter)SNVPathogenicrs864622073GRCh37Chr 13, 32913508: 32913508
95BRCA2NM_ 000059.3(BRCA2): c.8633-?_ 9256+?deldeletionPathogenic
96BRCA2NM_ 000059.3(BRCA2): c.6254T> G (p.Leu2085Ter)SNVPathogenicrs864622082GRCh38Chr 13, 32340609: 32340609
97BRCA2NM_ 000059.3(BRCA2): c.6998dupT (p.Pro2334Thrfs)duplicationPathogenicrs754611265GRCh37Chr 13, 32921024: 32921024
98BRCA1NM_ 007294.3(BRCA1): c.4709dupT (p.Phe1571Leufs)duplicationPathogenicrs864622132GRCh38Chr 17, 43071205: 43071205
99BRCA2NM_ 000059.3(BRCA2): c.3649delA (p.Arg1217Glyfs)deletionPathogenicrs864622134GRCh37Chr 13, 32912141: 32912141
100BRCA1NM_ 007294.3(BRCA1): c.5407-?_ *(1_ ?)deldeletionPathogenicGRCh37Chr 17, 41197694: 41199720
101BRCA2NM_ 000059.3(BRCA2): c.8987T> A (p.Leu2996Ter)SNVPathogenicrs864622200GRCh38Chr 13, 32379783: 32379783
102BRCA1NM_ 007294.3(BRCA1): c.5525delT (p.Val1842Glufs)deletionPathogenicrs864622220GRCh37Chr 17, 41197762: 41197762
103BRCA1NM_ 007294.3(BRCA1): c.548-?_ 4185+?deldeletionPathogenicGRCh37Chr 17, 41242961: 41249306
104BRCA1NM_ 007294.3(BRCA1): c.531dupT (p.Val178Cysfs)duplicationPathogenicrs864622350GRCh37Chr 17, 41251808: 41251808
105BRCA1NM_ 007294.3(BRCA1): c.135-?_ 441+?dupduplicationPathogenic/ Likely pathogenic
106BRCA2NM_ 000059.3(BRCA2): c.4740_ 4741dupTG (p.Glu1581Valfs)duplicationPathogenicrs864622401GRCh38Chr 13, 32339095: 32339096
107BRCA2NM_ 000059.3(BRCA2): c.7806-?_ 8331+?deldeletionPathogenic
108BRCA2NM_ 000059.3(BRCA2): c.144delA (p.Glu49Asnfs)deletionPathogenicrs864622434GRCh37Chr 13, 32893290: 32893290
109BRCA1NM_ 007294.3(BRCA1): c.2378dupA (p.Ala794Glyfs)duplicationPathogenicrs864622536GRCh37Chr 17, 41245170: 41245170
110BRCA2NM_ 000059.3(BRCA2): c.9027T> G (p.Tyr3009Ter)SNVPathogenicrs864622568GRCh37Chr 13, 32953960: 32953960
111BRCA2NM_ 000059.3(BRCA2): c.3191C> G (p.Ser1064Ter)SNVPathogenicrs864622609GRCh37Chr 13, 32911683: 32911683
112BRCA1NM_ 007294.3(BRCA1): c.5152+5G> CSNVLikely pathogenicrs80358165GRCh37Chr 17, 41215886: 41215886
113BRCA2NM_ 000059.3(BRCA2): c.3201delT (p.Val1068Tyrfs)deletionPathogenicrs864622672GRCh37Chr 13, 32911693: 32911693
114BRCA2NM_ 000059.3(BRCA2): c.8902_ 8913delACCGTGTGGAAGinsTCCC (p.Thr2968Serfs)indelPathogenicrs864622735GRCh37Chr 13, 32953601: 32953612
115RAD51BNM_ 133509.3(RAD51B): c.84G> A (p.Gln28=)SNVLikely pathogenicrs764896402GRCh38Chr 14, 67823627: 67823627
116ATMNM_ 000051.3(ATM): c.6198+1G> ASNVLikely pathogenicrs778031266GRCh38Chr 11, 108316114: 108316114
117ATMNM_ 000051.3(ATM): c.1924G> T (p.Glu642Ter)SNVLikely pathogenicrs1057519364GRCh38Chr 11, 108253839: 108253839
118ATMNM_ 000051.3(ATM): c.3747-1G> ASNVLikely pathogenicrs730881364GRCh38Chr 11, 108284226: 108284226
119PALB2NM_ 024675.3(PALB2): c.1042C> T (p.Gln348Ter)SNVLikely pathogenicrs375699023GRCh38Chr 16, 23635504: 23635504
120BRCA2NM_ 000059.3: c.156_ 157insALUinsertionPathogenic
121BRCA1NM_ 007294.3(BRCA1): c.81-?_ 134+?deldeletionPathogenicGRCh37Chr 17, 41267743: 41267796
122BRCA2NM_ 000059.3: c.9342_ 9343insALUinsertionPathogenic
123BRCA2NM_ 000059.3(BRCA2): c.4619_ 4623delACAAA (p.Asp1540Glyfs)deletionPathogenicrs869320793GRCh37Chr 13, 32913111: 32913115
124BRCA2NM_ 000059.3(BRCA2): c.1832C> G (p.Ser611Ter)SNVPathogenicrs80358474GRCh38Chr 13, 32333310: 32333310
125BRCA2NM_ 000059.3(BRCA2): c.3187C> T (p.Gln1063Ter)SNVPathogenicrs876657678GRCh37Chr 13, 32911679: 32911679
126BRCA2NM_ 000059.3(BRCA2): c.4092_ 4093insAA (p.Cys1365Asnfs)insertionPathogenicrs876658329GRCh37Chr 13, 32912584: 32912585
127BRCA2NM_ 000059.3(BRCA2): c.1943delC (p.Ser648Tyrfs)deletionPathogenicrs876658660GRCh37Chr 13, 32910435: 32910435
128BRCA2NM_ 000059.3(BRCA2): c.9195_ 9196delTCinsAT (p.Phe3065_ Gln3066delinsLeuTer)indelPathogenicrs876659047GRCh37Chr 13, 32954221: 32954222
129BRCA2NM_ 000059.3(BRCA2): c.9409_ 9412delACTT (p.Thr3137Tyrfs)deletionPathogenicrs876659211GRCh37Chr 13, 32968978: 32968981
130BRCA2NM_ 000059.3(BRCA2): c.4003G> T (p.Glu1335Ter)SNVPathogenicrs747070579GRCh37Chr 13, 32912495: 32912495
131BRCA2NM_ 000059.3(BRCA2): c.7762_ 7764delATAinsTT (p.Ile2588Phefs)indelPathogenicrs483353072GRCh37Chr 13, 32932023: 32932025
132BRCA2NM_ 000059.3(BRCA2): c.5134G> T (p.Gly1712Ter)SNVPathogenicrs876661056GRCh37Chr 13, 32913626: 32913626
133BRCA2NM_ 000059.3(BRCA2): c.9381G> A (p.Trp3127Ter)SNVPathogenicrs876661242GRCh37Chr 13, 32968950: 32968950
134BRCA2NM_ 000059.3(BRCA2): c.1189C> T (p.Gln397Ter)SNVPathogenicrs760815829GRCh37Chr 13, 32906804: 32906804
135BRCA2NM_ 000059.3(BRCA2): c.2095C> T (p.Gln699Ter)SNVPathogenicrs878853559GRCh38Chr 13, 32336450: 32336450
136BRCA2NM_ 000059.3(BRCA2): c.2151_ 2152delTG (p.Cys717Terfs)deletionPathogenicrs878853560GRCh38Chr 13, 32336506: 32336507
137BRCA2NM_ 000059.3(BRCA2): c.2239G> T (p.Glu747Ter)SNVPathogenicrs878853561GRCh37Chr 13, 32910731: 32910731
138BRCA2NM_ 000059.3(BRCA2): c.3349delA (p.Ile1117Tyrfs)deletionPathogenicrs878853567GRCh38Chr 13, 32337704: 32337704
139BRCA2NM_ 000059.3(BRCA2): c.342_ 343delTA (p.His114Glnfs)deletionPathogenicrs878853568GRCh38Chr 13, 32325101: 32325102
140BRCA2NM_ 000059.3(BRCA2): c.3481_ 3482dupGA (p.Asp1161Glufs)duplicationPathogenicrs878853569GRCh37Chr 13, 32911973: 32911974
141BRCA2NM_ 000059.3(BRCA2): c.3688delT (p.Ser1230Leufs)deletionPathogenicrs878853573GRCh38Chr 13, 32338043: 32338043
142BRCA2NM_ 000059.3(BRCA2): c.4007_ 4008insCATC (p.Asp1337Ilefs)insertionPathogenicrs878853577GRCh37Chr 13, 32912499: 32912500
143BRCA2NM_ 000059.3(BRCA2): c.4170_ 4171delGG (p.Glu1391Serfs)deletionPathogenicrs878853579GRCh38Chr 13, 32338525: 32338526
144BRCA2NM_ 000059.3(BRCA2): c.4707C> A (p.Tyr1569Ter)SNVPathogenicrs878853585GRCh37Chr 13, 32913199: 32913199
145BRCA2NM_ 000059.3(BRCA2): c.6233dupG (p.Val2079Serfs)duplicationPathogenicrs878853595GRCh37Chr 13, 32914725: 32914725
146BRCA2NM_ 000059.3(BRCA2): c.6428C> A (p.Ser2143Ter)SNVPathogenicrs149330893GRCh37Chr 13, 32914920: 32914920
147BRCA2NM_ 000059.3(BRCA2): c.7007+1G> ASNVPathogenicrs397507891GRCh38Chr 13, 32346897: 32346897
148BRCA2NM_ 000059.3(BRCA2): c.7147dupT (p.Tyr2383Leufs)duplicationPathogenicrs878853599GRCh37Chr 13, 32929137: 32929137
149BRCA2NM_ 000059.3(BRCA2): c.7673delA (p.Glu2558Glyfs)deletionPathogenicrs878853605GRCh38Chr 13, 32357797: 32357797
150BRCA2NM_ 000059.3(BRCA2): c.8223delG (p.Asn2742Metfs)deletionPathogenicrs878853608GRCh37Chr 13, 32937562: 32937562
151BRCA2NM_ 000059.3(BRCA2): c.8585_ 8586delTA (p.Leu2862Argfs)deletionPathogenicrs878853611GRCh37Chr 13, 32945190: 32945191
152BRCA2NM_ 000059.3(BRCA2): c.9270delC (p.Phe3090Leufs)deletionPathogenicrs878853619GRCh37Chr 13, 32968839: 32968839
153BRCA1NM_ 007294.3(BRCA1): c.1148delA (p.Asn383Metfs)deletionPathogenicrs878854930GRCh37Chr 17, 41246400: 41246400
154BRCA1NM_ 007294.3(BRCA1): c.1601_ 1602delAG (p.Gln534Argfs)deletionPathogenicrs878854933GRCh38Chr 17, 43093929: 43093930
155BRCA1NM_ 007294.3(BRCA1): c.1799delT (p.Ile600Thrfs)deletionPathogenicrs878854934GRCh37Chr 17, 41245749: 41245749
156BRCA1NM_ 007294.3(BRCA1): c.1923dupT (p.Asp642Terfs)duplicationPathogenicrs878854935GRCh38Chr 17, 43093608: 43093608
157BRCA1NM_ 007294.3(BRCA1): c.2226_ 2227delTA (p.Asn742Lysfs)deletionPathogenicrs878854938GRCh38Chr 17, 43093304: 43093305
158BRCA1NM_ 007294.3(BRCA1): c.2912_ 2913delAT (p.His971Argfs)deletionPathogenicrs878854940GRCh38Chr 17, 43092618: 43092619
159BRCA1NM_ 007294.3(BRCA1): c.3893C> G (p.Ser1298Ter)SNVPathogenicrs80357440GRCh37Chr 17, 41243655: 41243655
160BRCA1NM_ 007294.3(BRCA1): c.4186-2A> GSNVPathogenicrs878854950GRCh38Chr 17, 43082577: 43082577
161BRCA1NM_ 007294.3(BRCA1): c.4370C> A (p.Ser1457Ter)SNVPathogenicrs80357130GRCh38Chr 17, 43076602: 43076602
162BRCA1NM_ 007294.3(BRCA1): c.4987-2A> CSNVLikely pathogenicrs397509212GRCh37Chr 17, 41219714: 41219714
163BRCA1NM_ 007294.3(BRCA1): c.649delA (p.Ser217Valfs)deletionPathogenicrs878854963GRCh38Chr 17, 43095867: 43095867
164BRCA2NM_ 000059.3(BRCA2): c.5110_ 5113delAGAA (p.Arg1704Terfs)deletionPathogenicrs879254123GRCh37Chr 13, 32913602: 32913605
165BRCA2NM_ 000059.3(BRCA2): c.2606C> G (p.Ser869Ter)SNVPathogenicrs80358523GRCh37Chr 13, 32911098: 32911098
166BRCA1NM_ 007294.3(BRCA1): c.-19-?_ 4185+?deldeletionPathogenicGRCh37Chr 17, 41242961: 41276132
167BRCA2NM_ 000059.3(BRCA2): c.-39-?_ 67+?deldeletionPathogenicGRCh38Chr 13, 32316422: 32316527
168BRCA2NM_ 000059.3(BRCA2): c.-39-?_ 793+?deldeletionPathogenic
169BRCA1NM_ 007294.3(BRCA1): c.4485-?_ 4675+?deldeletionPathogenic
170BRCA1NM_ 007294.3(BRCA1): c.81-?_ 4986+?deldeletionPathogenicGRCh37Chr 17, 41222945: 41267796
171BRCA1NM_ 007294.3(BRCA1): c.442-?_ 593+?deldeletionPathogenicGRCh37Chr 17, 41249261: 41251897
172BRCA1NM_ 007294.3(BRCA1): c.442-?_ 4357+?deldeletionPathogenicGRCh37Chr 17, 41234421: 41251897
173BRCA1NM_ 007294.3(BRCA1): c.5333-?_ 5406+?deldeletionPathogenic
174BRCA1NM_ 007294.3(BRCA1): c.5075-?_ 5277+?dup203duplicationPathogenic/ Likely pathogenicGRCh37Chr 17, 41209069: 41215968
175BRCA1NM_ 007294.3(BRCA1): c.442-?_ 547+?deldeletionPathogenicGRCh37Chr 17, 41251792: 41251897
176BRCA1NM_ 007294.3(BRCA1): c.-19-?_ 80+?deldeletionPathogenicGRCh37Chr 17, 41276034: 41276132
177BRCA2NM_ 000059.3(BRCA2): c.7598_ 7617+263del283deletionPathogenicGRCh37Chr 13, 32930727: 32931009
178BRCA1NM_ 007294.3(BRCA1): c.3910G> T (p.Glu1304Ter)SNVPathogenicrs886038028GRCh37Chr 17, 41243638: 41243638
179BRCA2NM_ 000059.3(BRCA2): c.486delG (p.Ser163Valfs)deletionPathogenicrs587780653GRCh38Chr 13, 32326252: 32326252
180BRCA2NM_ 000059.3(BRCA2): c.584C> G (p.Ser195Ter)SNVPathogenicrs886038053GRCh37Chr 13, 32900703: 32900703
181BRCA2NM_ 000059.3(BRCA2): c.3593dupA (p.Asn1198Lysfs)duplicationPathogenicrs797044986GRCh37Chr 13, 32912085: 32912085
182BRCA2NM_ 000059.3(BRCA2): c.5644_ 5647delTCAA (p.Ser1882Lysfs)deletionPathogenicrs786204172GRCh37Chr 13, 32914136: 32914139
183BRCA2NM_ 000059.3(BRCA2): c.7471delC (p.Gln2491Argfs)deletionPathogenicrs886038170GRCh37Chr 13, 32930600: 32930600
184BRCA2NM_ 000059.3(BRCA2): c.9246dupG (p.Lys3083Glufs)duplicationPathogenicrs886038189GRCh37Chr 13, 32954272: 32954272
185BRCA1NM_ 007294.3(BRCA1): c.5569delC (p.Gln1857Argfs)deletionLikely pathogenicrs886039675GRCh37Chr 17, 41197718: 41197718
186BRCA1NM_ 007294.3(BRCA1): c.2346dupT (p.Ile783Tyrfs)duplicationPathogenicrs886040027GRCh38Chr 17, 43093185: 43093185
187BRCA1NM_ 007294.3(BRCA1): c.3205delC (p.Gln1069Lysfs)deletionPathogenicrs886040103GRCh37Chr 17, 41244343: 41244343
188BRCA1NM_ 007294.3(BRCA1): c.4503C> A (p.Cys1501Ter)SNVPathogenicrs747539984GRCh38Chr 17, 43074503: 43074503
189BRCA1NM_ 007294.3(BRCA1): c.788dupG (p.Ser264Terfs)duplicationPathogenicrs886040319GRCh37Chr 17, 41246760: 41246760
190BRCA2NM_ 000059.3(BRCA2): c.1668_ 1671delTTTAinsATT (p.Asn556Lysfs)indelPathogenicrs483353110GRCh37Chr 13, 32907283: 32907286
191BRCA2NM_ 000059.3(BRCA2): c.1762_ 1766delAATAA (p.Asn588Valfs)deletionPathogenicrs886040386GRCh37Chr 13, 32907377: 32907381
192BRCA2NM_ 000059.3(BRCA2): c.2095_ 2096delCA (p.Gln699Valfs)deletionPathogenicrs886040403GRCh38Chr 13, 32336450: 32336451
193BRCA2NM_ 000059.3(BRCA2): c.2847T> A (p.Tyr949Ter)SNVPathogenicrs886040449GRCh37Chr 13, 32911339: 32911339
194BRCA2NM_ 000059.3(BRCA2): c.2971_ 2983delAACAAATGGGCAG (p.Asn991Aspfs)deletionPathogenicrs886040456GRCh37Chr 13, 32911463: 32911475
195BRCA2NM_ 000059.3(BRCA2): c.7389_ 7392delTCAA (p.Asn2463Lysfs)deletionPathogenicrs886040704GRCh38Chr 13, 32355242: 32355245
196BRCA2NM_ 000059.3(BRCA2): c.7485dupT (p.Lys2496Terfs)duplicationPathogenicrs886040710GRCh38Chr 13, 32356477: 32356477
197BRCA2NM_ 000059.3(BRCA2): c.8951C> A (p.Ser2984Ter)SNVPathogenicrs80359146GRCh38Chr 13, 32379513: 32379513
198BRCA1NM_ 007300.3: c.4358_ 4484deldeletionLikely pathogenicGRCh38Chr 17, 43076551: 43079399
199BRCA1NM_ 007294.3(BRCA1): c.5116G> A (p.Gly1706Arg)SNVLikely pathogenicrs886040864GRCh38Chr 17, 43063910: 43063910
200BRCA1NM_ 007294.3(BRCA1): c.5407_ 5414delGGTGTCCA (p.Gly1803Profs)deletionPathogenicrs886040865GRCh37Chr 17, 41199713: 41199720
201BRCA1NM_ 007294.3(BRCA1): c.442-43_ 524deldeletionPathogenicGRCh38Chr 17, 43099798: 43099923
202BRCA2NM_ 000059.3(BRCA2): c.7843_ 7844delAT (p.Ile2615Phefs)deletionLikely pathogenicrs886040867GRCh37Chr 13, 32936697: 32936698
203BRCA2NM_ 000059.3(BRCA2): c.6879delT (p.Phe2293Leufs)deletionPathogenicrs886040932GRCh38Chr 13, 32344595: 32344595
204BRCA2NM_ 000059.3(BRCA2): c.9257-2A> GSNVPathogenic/ Likely pathogenicrs886040954GRCh38Chr 13, 32394687: 32394687
205BRCA1NM_ 007294.3(BRCA1): c.135-1G> TSNVPathogenicrs80358158GRCh37Chr 17, 41258551: 41258551
206BRCA1NM_ 007294.3(BRCA1): c.1360_ 1361delAG (p.Ser454Terfs)deletionPathogenicrs80357969GRCh37Chr 17, 41246187: 41246188
207BRCA1NM_ 007294.3(BRCA1): c.1389_ 1390delAAinsG (p.Thr464Profs)indelPathogenicrs273897659GRCh37Chr 17, 41246158: 41246159
208BRCA1NM_ 007294.3(BRCA1): c.143delT (p.Met48Serfs)deletionPathogenicrs80357637GRCh37Chr 17, 41258542: 41258542
209BRCA1NM_ 007294.3(BRCA1): c.1444_ 1447delATTA (p.Ile482Terfs)deletionPathogenicrs80357801GRCh37Chr 17, 41246101: 41246104
210BRCA1NM_ 007294.3(BRCA1): c.1480C> T (p.Gln494Ter)SNVPathogenicrs80357010GRCh37Chr 17, 41246068: 41246068
211BRCA1NM_ 007294.3(BRCA1): c.1504_ 1508delTTAAA (p.Leu502Alafs)deletionPathogenicrs80357888GRCh37Chr 17, 41246040: 41246044
212BRCA1NM_ 007294.3(BRCA1): c.1674delA (p.Gly559Valfs)deletionPathogenicrs80357600GRCh37Chr 17, 41245874: 41245874
213BRCA1NM_ 007294.3(BRCA1): c.1687C> T (p.Gln563Ter)SNVPathogenicrs80356898GRCh37Chr 17, 41245861: 41245861
214BRCA1NM_ 007294.3(BRCA1): c.1953_ 1956delGAAA (p.Lys653Serfs)deletionPathogenicrs80357526GRCh37Chr 17, 41245592: 41245595
215BRCA1NM_ 007294.3(BRCA1): c.1960A> T (p.Lys654Ter)SNVPathogenicrs80357355GRCh37Chr 17, 41245588: 41245588
216BRCA1NM_ 007294.3(BRCA1): c.1961delA (p.Lys654Serfs)deletionPathogenicrs80357522GRCh37Chr 17, 41245587: 41245587
217BRCA1NM_ 007294.3(BRCA1): c.2071delA (p.Arg691Aspfs)deletionPathogenicrs80357688GRCh37Chr 17, 41245477: 41245477
218BRCA1NM_ 007294.3(BRCA1): c.2105dupT (p.Leu702Phefs)duplicationPathogenicrs80357880GRCh37Chr 17, 41245443: 41245443
219BRCA1NM_ 007294.3(BRCA1): c.213-11T> GSNVPathogenicrs80358061GRCh37Chr 17, 41256984: 41256984
220BRCA1NM_ 007294.3(BRCA1): c.213-12A> GSNVPathogenicrs80358163GRCh37Chr 17, 41256985: 41256985
221BRCA1NM_ 007294.3(BRCA1): c.2138C> G (p.Ser713Ter)SNVPathogenicrs80357233GRCh37Chr 17, 41245410: 41245410
222BRCA1NM_ 007294.3(BRCA1): c.2210_ 2211delCA (p.Thr737Serfs)deletionPathogenicrs80357654GRCh37Chr 17, 41245337: 41245338
223BRCA1NM_ 007294.3(BRCA1): c.2411_ 2412delAG (p.Gln804Leufs)deletionPathogenicrs80357664GRCh37Chr 17, 41245136: 41245137
224BRCA1NM_ 007294.3(BRCA1): c.2433delC (p.Lys812Argfs)deletionPathogenicrs80357524GRCh37Chr 17, 41245115: 41245115
225BRCA1NM_ 007294.3(BRCA1): c.2457delC (p.Asp821Ilefs)deletionPathogenicrs80357669GRCh37Chr 17, 41245091: 41245091
226BRCA1NM_ 007294.3(BRCA1): c.2475delC (p.Asp825Glufs)deletionPathogenicrs80357970GRCh37Chr 17, 41245073: 41245073
227BRCA1NM_ 007294.3(BRCA1): c.2563C> T (p.Gln855Ter)SNVPathogenicrs80357131GRCh37Chr 17, 41244985: 41244985
228BRCA1NM_ 007294.3(BRCA1): c.2635G> T (p.Glu879Ter)SNVPathogenicrs80357251GRCh37Chr 17, 41244913: 41244913
229BRCA1NM_ 007294.3(BRCA1): c.2679_ 2682delGAAA (p.Lys893Asnfs)deletionPathogenicrs80357596GRCh37Chr 17, 41244866: 41244869
230BRCA1NM_ 007294.3(BRCA1): c.2706_ 2707dupAT (p.Cys903Tyrfs)duplicationPathogenicrs80357717GRCh37Chr 17, 41244841: 41244842
231BRCA1NM_ 007294.3(BRCA1): c.2806_ 2809delGATA (p.Asp936Serfs)deletionPathogenicrs80357832GRCh37Chr 17, 41244739: 41244742
232BRCA1NM_ 007294.3(BRCA1): c.2934T> G (p.Tyr978Ter)SNVPathogenicrs80357115GRCh37Chr 17, 41244614: 41244614
233BRCA1NM_ 007294.3(BRCA1): c.3228_ 3229delAG (p.Gly1077Alafs)deletionPathogenicrs80357635GRCh37Chr 17, 41244319: 41244320
234BRCA1NM_ 007294.3(BRCA1): c.3331_ 3334delCAAG (p.Gln1111Asnfs)deletionPathogenicrs80357701GRCh37Chr 17, 41244214: 41244217
235BRCA1NM_ 007294.3(BRCA1): c.3400G> T (p.Glu1134Ter)SNVPathogenicrs80357018GRCh37Chr 17, 41244148: 41244148
236BRCA1NM_ 007294.3(BRCA1): c.3485delA (p.Asp1162Valfs)deletionPathogenicrs80357509GRCh37Chr 17, 41244063: 41244063
237BRCA1NM_ 007294.3(BRCA1): c.3627dupA (p.Glu1210Argfs)duplicationPathogenicrs80357729GRCh37Chr 17, 41243921: 41243921
238BRCA1NM_ 007294.3(BRCA1): c.3648dupA (p.Ser1217Ilefs)duplicationPathogenicrs80357902GRCh37Chr 17, 41243900: 41243900
239BRCA1NM_ 007294.3(BRCA1): c.3700_ 3704delGTAAA (p.Val1234Glnfs)deletionPathogenicrs80357609GRCh37Chr 17, 41243844: 41243848
240BRCA1NM_ 007294.3(BRCA1): c.3764dupA (p.Asn1255Lysfs)duplicationPathogenicrs80357848GRCh37Chr 17, 41243784: 41243784
241BRCA1NM_ 007294.3(BRCA1): c.3770_ 3771delAG (p.Glu1257Glyfs)deletionPathogenicrs80357579GRCh37Chr 17, 41243777: 41243778
242BRCA1NM_ 007294.3(BRCA1): c.3858_ 3861delTGAG (p.Ser1286Argfs)deletionPathogenicrs80357842GRCh37Chr 17, 41243687: 41243690
243BRCA1NM_ 007294.3(BRCA1): c.3868A> T (p.Lys1290Ter)SNVPathogenicrs80357254GRCh37Chr 17, 41243680: 41243680
244BRCA1NM_ 007294.3(BRCA1): c.4243G> T (p.Glu1415Ter)SNVLikely pathogenicrs1057519558GRCh38Chr 17, 43082518: 43082518
245BRCA2NM_ 000059.3(BRCA2): c.5161_ 5164delAACA (p.Asn1721Valfs)deletionPathogenicrs1057519559GRCh38Chr 13, 32339516: 32339519
246BRCA1NM_ 007294.3(BRCA1): c.3937C> T (p.Gln1313Ter)SNVPathogenicrs80357318GRCh37Chr 17, 41243611: 41243611
247BRCA1NM_ 007294.3(BRCA1): c.4035delA (p.Glu1346Lysfs)deletionPathogenicrs80357711GRCh37Chr 17, 41243513: 41243513
248BRCA1NM_ 007294.3(BRCA1): c.4096+1G> ASNVPathogenic/ Likely pathogenicrs80358178GRCh37Chr 17, 41243451: 41243451
249BRCA1NM_ 007294.3(BRCA1): c.4117G> T (p.Glu1373Ter)SNVPathogenicrs80357259GRCh37Chr 17, 41243029: 41243029
250BRCA1NM_ 007294.3(BRCA1): c.427G> T (p.Glu143Ter)SNVPathogenicrs80356991GRCh37Chr 17, 41256153: 41256153
251BRCA1NM_ 007294.3(BRCA1): c.4357+1G> ASNVPathogenicrs80358027GRCh37Chr 17, 41234420: 41234420
252BRCA1NM_ 007294.3(BRCA1): c.4391_ 4393delCTAinsTT (p.Pro1464Leufs)indelPathogenicrs273900730GRCh37Chr 17, 41228596: 41228598
253BRCA1NM_ 007294.3(BRCA1): c.4484+1G> ASNVPathogenicrs80358063GRCh37Chr 17, 41228504: 41228504
254BRCA1NM_ 007294.3(BRCA1): c.4484G> T (p.Arg1495Met)SNVPathogenicrs80357389GRCh37Chr 17, 41228505: 41228505
255BRCA1NM_ 007294.3(BRCA1): c.4689C> G (p.Tyr1563Ter)SNVPathogenicrs80357433GRCh37Chr 17, 41223242: 41223242
256BRCA1NM_ 007294.3(BRCA1): c.470_ 471delCT (p.Ser157Terfs)deletionPathogenicrs80357887GRCh37Chr 17, 41251868: 41251869
257BRCA1NM_ 007294.3(BRCA1): c.4964_ 4982del19 (p.Ser1655Tyrfs)deletionPathogenicrs80359876GRCh37Chr 17, 41222949: 41222967
258BRCA1NM_ 007294.3(BRCA1): c.4986+6T> CSNVPathogenic/ Likely pathogenicrs80358086GRCh37Chr 17, 41222939: 41222939
259BRCA1NM_ 007294.3(BRCA1): c.5030_ 5033delCTAA (p.Thr1677Ilefs)deletionPathogenicrs80357580GRCh37Chr 17, 41219666: 41219669
260BRCA1NM_ 007294.3(BRCA1): c.5035_ 5039delCTAAT (p.Leu1679Tyrfs)deletionPathogenicrs80357623GRCh37Chr 17, 41219660: 41219664
261BRCA1NM_ 007294.3(BRCA1): c.5074+1G> ASNVPathogenicrs80358053GRCh37Chr 17, 41219624: 41219624
262BRCA1NM_ 007294.3(BRCA1): c.5074+2T> CSNVPathogenic/ Likely pathogenicrs80358089GRCh37Chr 17, 41219623: 41219623
263BRCA1NM_ 007294.3(BRCA1): c.5074G> C (p.Asp1692His)SNVPathogenic/ Likely pathogenicrs80187739GRCh37Chr 17, 41219625: 41219625
264BRCA1NM_ 007294.3(BRCA1): c.5117G> A (p.Gly1706Glu)SNVPathogenicrs80356860GRCh37Chr 17, 41215926: 41215926
265BRCA1NM_ 007294.3(BRCA1): c.5152+1G> CSNVPathogenicrs80358094GRCh37Chr 17, 41215890: 41215890
266BRCA1NM_ 007294.3(BRCA1): c.5153-1G> CSNVPathogenicrs80358137GRCh37Chr 17, 41215391: 41215391
267BRCA1NM_ 007294.3(BRCA1): c.5177_ 5180delGAAA (p.Arg1726Lysfs)deletionPathogenicrs80357867GRCh37Chr 17, 41215363: 41215366
268BRCA1NM_ 007294.3(BRCA1): c.5179A> T (p.Lys1727Ter)SNVPathogenicrs80357347GRCh37Chr 17, 41215364: 41215364
269BRCA1NM_ 007294.3(BRCA1): c.5259delA (p.Glu1754Asnfs)deletionPathogenicrs80357925GRCh37Chr 17, 41209087: 41209087
270BRCA1NM_ 007294.3(BRCA1): c.5277+1G> ASNVPathogenicrs80358150GRCh37Chr 17, 41209068: 41209068
271BRCA1NM_ 007294.3(BRCA1): c.5297T> G (p.Ile1766Ser)SNVPathogenicrs80357463GRCh37Chr 17, 41203115: 41203115
272BRCA1NM_ 007294.3(BRCA1): c.5335delC (p.Gln1779Asnfs)deletionPathogenicrs80357590GRCh37Chr 17, 41201209: 41201209
273BRCA1NM_ 007294.3(BRCA1): c.5363G> T (p.Gly1788Val)SNVPathogenicrs80357069GRCh37Chr 17, 41201181: 41201181
274BRCA1NM_ 007294.3(BRCA1): c.5387C> A (p.Ser1796Ter)SNVPathogenicrs80357055GRCh37Chr 17, 41201157: 41201157
275BRCA1NM_ 007294.3(BRCA1): c.5467+1G> ASNVPathogenic/ Likely pathogenicrs80358145GRCh37Chr 17, 41199659: 41199659
276BRCA1NM_ 007294.3(BRCA1): c.547+2T> ASNVPathogenicrs80358047GRCh37Chr 17, 41251790: 41251790
277BRCA1NM_ 007294.3(BRCA1): c.66dupA (p.Glu23Argfs)duplicationPathogenicrs80357783GRCh37Chr 17, 41276048: 41276048
278BRCA1NM_ 007294.3(BRCA1): c.676delT (p.Cys226Valfs)deletionPathogenicrs80357941GRCh37Chr 17, 41246872: 41246872
279BRCA1NM_ 007294.3(BRCA1): c.697_ 698delGT (p.Val233Asnfs)deletionPathogenicrs80357747GRCh37Chr 17, 41246850: 41246851
280BRCA1NM_ 007294.3(BRCA1): c.798_ 799delTT (p.Ser267Lysfs)deletionPathogenicrs80357724GRCh37Chr 17, 41246749: 41246750
281BRCA1NM_ 007294.3(BRCA1): c.962G> A (p.Trp321Ter)SNVPathogenicrs80357292GRCh37Chr 17, 41246586: 41246586
282BRCA2NM_ 000059.3(BRCA2): c.1054dupT (p.Tyr352Leufs)duplicationPathogenicrs80359261GRCh37Chr 13, 32906669: 32906669
283BRCA2NM_ 000059.3(BRCA2): c.1257delT (p.Cys419Trpfs)deletionPathogenicrs80359272GRCh37Chr 13, 32906872: 32906872
284BRCA2NM_ 000059.3(BRCA2): c.1265delA (p.Asn422Ilefs)deletionPathogenicrs80359273GRCh37Chr 13, 32906880: 32906880
285BRCA2NM_ 000059.3(BRCA2): c.1296_ 1297delGA (p.Asn433Glnfs)deletionPathogenicrs80359276GRCh37Chr 13, 32906911: 32906912
286BRCA2NM_ 000059.3(BRCA2): c.1310_ 1313delAAGA (p.Lys437Ilefs)deletionPathogenicrs80359277GRCh37Chr 13, 32906925: 32906928
287BRCA2NM_ 000059.3(BRCA2): c.1755_ 1759delGAAAA (p.Lys585Asnfs)deletionPathogenicrs80359302GRCh37Chr 13, 32907370: 32907374
288BRCA2NM_ 000059.3(BRCA2): c.1796_ 1800delCTTAT (p.Ser599Terfs)deletionPathogenicrs276174813GRCh37Chr 13, 32907411: 32907415
289BRCA2NM_ 000059.3(BRCA2): c.1813dupA (p.Ile605Asnfs)duplicationPathogenicrs80359306GRCh37Chr 13, 32907428: 32907428
290BRCA2NM_ 000059.3(BRCA2): c.1813delA (p.Ile605Tyrfs)deletionPathogenicrs80359307GRCh37Chr 13, 32907428: 32907428
291BRCA2NM_ 000059.3(BRCA2): c.1832C> A (p.Ser611Ter)SNVPathogenicrs80358474GRCh37Chr 13, 32907447: 32907447
292BRCA2NM_ 000059.3(BRCA2): c.1929delG (p.Arg645Glufs)deletionPathogenicrs80359316GRCh37Chr 13, 32910421: 32910421
293BRCA2NM_ 000059.3(BRCA2): c.2092delC (p.Leu698Tyrfs)deletionPathogenicrs80359322GRCh37Chr 13, 32910584: 32910584
294BRCA2NM_ 000059.3(BRCA2): c.2409T> G (p.Tyr803Ter)SNVPathogenicrs80358504GRCh37Chr 13, 32910901: 32910901
295BRCA2NM_ 000059.3(BRCA2): c.2426T> G (p.Leu809Ter)SNVPathogenicrs397507285GRCh37Chr 13, 32910918: 32910918
296BRCA2NM_ 000059.3(BRCA2): c.2588dupA (p.Asn863Lysfs)duplicationPathogenicrs80359335GRCh37Chr 13, 32911080: 32911080
297BRCA2NM_ 000059.3(BRCA2): c.2818C> T (p.Gln940Ter)SNVPathogenicrs80358532GRCh37Chr 13, 32911310: 32911310
298BRCA2NM_ 000059.3(BRCA2): c.2957_ 2958insG (p.Asn986Lysfs)insertionPathogenicrs80359365GRCh37Chr 13, 32911449: 32911450
299BRCA2NM_ 000059.3(BRCA2): c.2979G> A (p.Trp993Ter)SNVPathogenicrs80358544GRCh37Chr 13, 32911471: 32911471
300BRCA2NM_ 000059.3(BRCA2): c.3009_ 3010delCA (p.His1003Glnfs)deletionPathogenicrs397507300GRCh37Chr 13, 32911501: 32911502
301BRCA2NM_ 000059.3(BRCA2): c.3109C> T (p.Gln1037Ter)SNVPathogenicrs80358557GRCh37Chr 13, 32911601: 32911601
302BRCA2NM_ 000059.3(BRCA2): c.3170_ 3174delAGAAA (p.Lys1057Thrfs)deletionPathogenicrs80359373GRCh37Chr 13, 32911662: 32911666
303BRCA2NM_ 000059.3(BRCA2): c.3264dupT (p.Gln1089Serfs)duplicationPathogenicrs80359380GRCh37Chr 13, 32911756: 32911756
304BRCA2NM_ 000059.3(BRCA2): c.3545_ 3546delTT (p.Phe1182Terfs)deletionPathogenicrs80359388GRCh37Chr 13, 32912037: 32912038
305BRCA2NM_ 000059.3(BRCA2): c.3717delA (p.Lys1239Asnfs)deletionPathogenicrs80359401GRCh37Chr 13, 32912209: 32912209
306BRCA2NM_ 000059.3(BRCA2): c.3744_ 3747delTGAG (p.Ser1248Argfs)deletionPathogenicrs80359403GRCh37Chr 13, 32912236: 32912239
307BRCA2NM_ 000059.3(BRCA2): c.3847_ 3848delGT (p.Val1283Lysfs)deletionPathogenicrs80359405GRCh37Chr 13, 32912339: 32912340
308BRCA2NM_ 000059.3(BRCA2): c.3865_ 3868delAAAT (p.Lys1289Alafs)deletionPathogenicrs80359412GRCh37Chr 13, 32912357: 32912360
309BRCA2NM_ 000059.3(BRCA2): c.3922G> T (p.Glu1308Ter)SNVPathogenicrs80358638GRCh37Chr 13, 32912414: 32912414
310BRCA2NM_ 000059.3(BRCA2): c.4058_ 4062delAAACG (p.Glu1353Glyfs)deletionPathogenicrs397507322GRCh37Chr 13, 32912550: 32912554
311BRCA2NM_ 000059.3(BRCA2): c.407delA (p.Asn136Ilefs)deletionPathogenicrs80359425GRCh37Chr 13, 32899303: 32899303
312BRCA2NM_ 000059.3(BRCA2): c.4127_ 4130delGAAA (p.Gly1376Alafs)deletionPathogenicrs397507323GRCh37Chr 13, 32912619: 32912622
313BRCA2NM_ 000059.3(BRCA2): c.4163_ 4164delCTinsA (p.Thr1388Asnfs)indelPathogenicrs276174843GRCh37Chr 13, 32912655: 32912656
314BRCA2NM_ 000059.3(BRCA2): c.4222C> T (p.Gln1408Ter)SNVPathogenicrs80358663GRCh37Chr 13, 32912714: 32912714
315BRCA2NM_ 000059.3(BRCA2): c.4284dupT (p.Gln1429Serfs)duplicationPathogenicrs80359439GRCh37Chr 13, 32912776: 32912776
316BRCA2NM_ 000059.3(BRCA2): c.4405_ 4409delGACAT (p.Asp1469Lysfs)deletionPathogenicrs397507331GRCh37Chr 13, 32912897: 32912901
317BRCA2NM_ 000059.3(BRCA2): c.4415_ 4418delAGAA (p.Lys1472Thrfs)deletionPathogenicrs397507333GRCh37Chr 13, 32912907: 32912910
318BRCA2NM_ 000059.3(BRCA2): c.4472_ 4475delTGAA (p.Leu1491Glnfs)deletionPathogenicrs80359452GRCh37Chr 13, 32912964: 32912967
319BRCA2NM_ 000059.3(BRCA2): c.4631dupA (p.Asn1544Lysfs)duplicationPathogenicrs80359460GRCh37Chr 13, 32913123: 32913123
320BRCA2NM_ 000059.3(BRCA2): c.4631delA (p.Asn1544Thrfs)deletionPathogenicrs80359461GRCh37Chr 13, 32913123: 32913123
321BRCA2NM_ 000059.3(BRCA2): c.4638delT (p.Phe1546Leufs)deletionPathogenicrs80359462GRCh37Chr 13, 32913130: 32913130
322BRCA2NM_ 000059.3(BRCA2): c.4712_ 4713delAG (p.Glu1571Glyfs)deletionPathogenicrs80359464GRCh37Chr 13, 32913204: 32913205
323BRCA2NM_ 000059.3(BRCA2): c.4876_ 4877delAA (p.Asn1626Serfs)deletionPathogenicrs80359470GRCh37Chr 13, 32913368: 32913369
324BRCA2NM_ 000059.3(BRCA2): c.4936_ 4939delGAAA (p.Glu1646Glnfs)deletionPathogenicrs80359473GRCh37Chr 13, 32913428: 32913431
325BRCA2NM_ 000059.3(BRCA2): c.4965C> G (p.Tyr1655Ter)SNVPathogenicrs80358721GRCh37Chr 13, 32913457: 32913457
326BRCA2NM_ 000059.3(BRCA2): c.5042_ 5043delTG (p.Val1681Glufs)deletionPathogenicrs80359478GRCh37Chr 13, 32913534: 32913535
327BRCA2NM_ 000059.3(BRCA2): c.5073dupA (p.Trp1692Metfs)duplicationPathogenicrs80359480GRCh37Chr 13, 32913565: 32913565
328BRCA2NM_ 000059.3(BRCA2): c.518delG (p.Gly173Valfs)deletionPathogenicrs80359492GRCh37Chr 13, 32900637: 32900637
329BRCA2NM_ 000059.3(BRCA2): c.5213_ 5216delCTTA (p.Thr1738Ilefs)deletionPathogenicrs80359493GRCh37Chr 13, 32913705: 32913708
330BRCA2NM_ 000059.3(BRCA2): c.5238dupT (p.Asn1747Terfs)duplicationPathogenicrs80359499GRCh37Chr 13, 32913730: 32913730
331BRCA2NM_ 000059.3(BRCA2): c.5290_ 5291delTC (p.Ser1764Lysfs)deletionPathogenicrs80359503GRCh37Chr 13, 32913782: 32913783
332BRCA2NM_ 000059.3(BRCA2): c.5303_ 5304delTT (p.Leu1768Argfs)deletionPathogenicrs80359505GRCh37Chr 13, 32913795: 32913796
333BRCA2NM_ 000059.3(BRCA2): c.5350_ 5351delAA (p.Asn1784Hisfs)deletionPathogenicrs80359507GRCh37Chr 13, 32913842: 32913843
334BRCA2NM_ 000059.3(BRCA2): c.5351dupA (p.Asn1784Lysfs)duplicationPathogenicrs80359508GRCh37Chr 13, 32913843: 32913843
335BRCA2NM_ 000059.3(BRCA2): c.5351delA (p.Asn1784Thrfs)deletionPathogenicrs80359509GRCh37Chr 13, 32913843: 32913843
336BRCA2NM_ 000059.3(BRCA2): c.5410_ 5411delGT (p.Val1804Lysfs)deletionPathogenicrs80359512GRCh37Chr 13, 32913902: 32913903
337BRCA2NM_ 000059.3(BRCA2): c.5576_ 5579delTTAA (p.Ile1859Lysfs)deletionPathogenicrs80359520GRCh37Chr 13, 32914068: 32914071
338BRCA2NM_ 000059.3(BRCA2): c.5603_ 5606delACAG (p.Asp1868Valfs)deletionPathogenicrs397507356GRCh37Chr 13, 32914095: 32914098
339BRCA2NM_ 000059.3(BRCA2): c.5614A> T (p.Lys1872Ter)SNVPathogenicrs80358783GRCh37Chr 13, 32914106: 32914106
340BRCA2NM_ 000059.3(BRCA2): c.5621_ 5624delTTAA (p.Ile1874Argfs)deletionPathogenicrs80359526GRCh37Chr 13, 32914113: 32914116
341BRCA2NM_ 000059.3(BRCA2): c.5645C> A (p.Ser1882Ter)SNVPathogenicrs80358785GRCh37Chr 13, 32914137: 32914137
342BRCA2NM_ 000059.3(BRCA2): c.5655C> A (p.Cys1885Ter)SNVPathogenicrs80358789GRCh37Chr 13, 32914147: 32914147
343BRCA2NM_ 000059.3(BRCA2): c.5681dupA (p.Tyr1894Terfs)duplicationPathogenicrs80359527GRCh37Chr 13, 32914173: 32914173
344BRCA2NM_ 000059.3(BRCA2): c.5682C> G (p.Tyr1894Ter)SNVPathogenicrs41293497GRCh37Chr 13, 32914174: 32914174
345BRCA2NM_ 000059.3(BRCA2): c.574_ 575delAT (p.Met192Valfs)deletionPathogenicrs80359533GRCh37Chr 13, 32900693: 32900694
346BRCA2NM_ 000059.3(BRCA2): c.5782G> T (p.Glu1928Ter)SNVPathogenicrs56253082GRCh37Chr 13, 32914274: 32914274
347BRCA2NM_ 000059.3(BRCA2): c.5799_ 5802delCCAA (p.Asn1933Lysfs)deletionPathogenicrs80359538GRCh37Chr 13, 32914291: 32914294
348BRCA2NM_ 000059.3(BRCA2): c.5828delC (p.Ser1943Leufs)deletionPathogenicrs80359541GRCh37Chr 13, 32914320: 32914320
349BRCA2NM_ 000059.3(BRCA2): c.5851_ 5854delAGTT (p.Ser1951Trpfs)deletionPathogenicrs80359543GRCh37Chr 13, 32914343: 32914346
350BRCA2NM_ 000059.3(BRCA2): c.5855T> A (p.Leu1952Ter)SNVPathogenicrs375064902GRCh37Chr 13, 32914347: 32914347
351BRCA2NM_ 000059.3(BRCA2): c.5909C> A (p.Ser1970Ter)SNVPathogenicrs80358824GRCh37Chr 13, 32914401: 32914401
352BRCA2NM_ 000059.3(BRCA2): c.5980C> T (p.Gln1994Ter)SNVPathogenicrs80358831GRCh37Chr 13, 32914472: 32914472
353BRCA2NM_ 000059.3(BRCA2): c.6024dupG (p.Gln2009Alafs)duplicationPathogenicrs80359554GRCh37Chr 13, 32914516: 32914516
354BRCA2NM_ 000059.3(BRCA2): c.6037A> T (p.Lys2013Ter)SNVPathogenicrs80358840GRCh37Chr 13, 32914529: 32914529
355BRCA2NM_ 000059.3(BRCA2): c.6206T> G (p.Leu2069Ter)SNVPathogenicrs80358859GRCh37Chr 13, 32914698: 32914698
356BRCA2NM_ 000059.3(BRCA2): c.6267_ 6269delGCAinsC (p.Glu2089Aspfs)indelPathogenicrs276174868GRCh37Chr 13, 32914759: 32914761
357BRCA2NM_ 000059.3(BRCA2): c.6373dupA (p.Thr2125Asnfs)duplicationPathogenicrs80359577GRCh37Chr 13, 32914865: 32914865
358BRCA2NM_ 000059.3(BRCA2): c.6405_ 6409delCTTAA (p.Asn2135Lysfs)deletionPathogenicrs80359584GRCh37Chr 13, 32914897: 32914901
359BRCA2NM_ 000059.3(BRCA2): c.6444dupT (p.Ile2149Tyrfs)duplicationPathogenicrs80359590GRCh37Chr 13, 32914936: 32914936
360BRCA2NM_ 000059.3(BRCA2): c.6468_ 6469delTC (p.Gln2157Ilefs)deletionPathogenicrs80359596GRCh37Chr 13, 32914960: 32914961
361BRCA2NM_ 000059.3(BRCA2): c.6486_ 6489delACAA (p.Lys2162Asnfs)deletionPathogenicrs80359598GRCh37Chr 13, 32914978: 32914981
362BRCA2NM_ 000059.3(BRCA2): c.6566dupA (p.Asn2189Lysfs)duplicationPathogenicrs397507373GRCh37Chr 13, 32915058: 32915058
363BRCA2NM_ 000059.3(BRCA2): c.6641dupC (p.Tyr2215Leufs)duplicationPathogenicrs80359613GRCh37Chr 13, 32915133: 32915133
364BRCA2NM_ 000059.3(BRCA2): c.6644_ 6647delACTC (p.Tyr2215Serfs)deletionPathogenicrs80359616GRCh37Chr 13, 32915136: 32915139
365BRCA2NM_ 000059.3(BRCA2): c.6944_ 6947delTAAA (p.Ile2315Lysfs)deletionPathogenicrs80359629GRCh37Chr 13, 32920970: 32920973
366BRCA2NM_ 000059.3(BRCA2): c.6952C> T (p.Arg2318Ter)SNVPathogenicrs80358920GRCh37Chr 13, 32920978: 32920978
367BRCA2NM_ 000059.3(BRCA2): c.700delT (p.Ser234Profs)deletionPathogenicrs80359630GRCh37Chr 13, 32905074: 32905074
368BRCA2NM_ 000059.3(BRCA2): c.7069_ 7070delCT (p.Leu2357Valfs)deletionPathogenicrs80359636GRCh37Chr 13, 32929059: 32929060
369BRCA2NM_ 000059.3(BRCA2): c.7133C> G (p.Ser2378Ter)SNVPathogenicrs276174889GRCh37Chr 13, 32929123: 32929123
370BRCA2NM_ 000059.3(BRCA2): c.7258G> T (p.Glu2420Ter)SNVPathogenicrs397507385GRCh37Chr 13, 32929248: 32929248
371BRCA2NM_ 000059.3(BRCA2): c.7480C> T (p.Arg2494Ter)SNVPathogenicrs80358972GRCh37Chr 13, 32930609: 32930609
372BRCA2NM_ 000059.3(BRCA2): c.755_ 758delACAG (p.Asp252Valfs)deletionPathogenicrs80359659GRCh37Chr 13, 32905129: 32905132
373BRCA2NM_ 000059.3(BRCA2): c.7567_ 7568delCT (p.Leu2523Glufs)deletionPathogenicrs80359664GRCh37Chr 13, 32930696: 32930697
374BRCA2NM_ 000059.3(BRCA2): c.7618-1G> ASNVPathogenicrs397507389GRCh37Chr 13, 32931878: 32931878
375BRCA2NM_ 000059.3(BRCA2): c.7673_ 7674delAG (p.Glu2558Valfs)deletionPathogenicrs80359672GRCh37Chr 13, 32931934: 32931935
376BRCA2NM_ 000059.3(BRCA2): c.778_ 779delGA (p.Glu260Serfs)deletionPathogenicrs80359677GRCh37Chr 13, 32905152: 32905153
377BRCA2NM_ 000059.3(BRCA2): c.7878G> A (p.Trp2626Ter)SNVPathogenicrs80359013GRCh37Chr 13, 32936732: 32936732
378BRCA2NM_ 000059.3(BRCA2): c.7878G> C (p.Trp2626Cys)SNVPathogenicrs80359013GRCh37Chr 13, 32936732: 32936732
379BRCA2NM_ 000059.3(BRCA2): c.7977-1G> CSNVPathogenicrs81002874GRCh37Chr 13, 32937315: 32937315
380BRCA2NM_ 000059.3(BRCA2): c.8297delC (p.Thr2766Asnfs)deletionPathogenicrs80359705GRCh37Chr 13, 32937636: 32937636
381BRCA2NM_ 000059.3(BRCA2): c.8414_ 8416delTATinsC (p.Leu2805Serfs)indelPathogenicrs397507402GRCh37Chr 13, 32944621: 32944623
382BRCA2NM_ 000059.3(BRCA2): c.8488-1G> ASNVPathogenic/ Likely pathogenicrs397507404GRCh37Chr 13, 32945092: 32945092
383BRCA2NM_ 000059.3(BRCA2): c.8575delC (p.Gln2859Lysfs)deletionPathogenicrs80359718GRCh37Chr 13, 32945180: 32945180
384BRCA2NM_ 000059.3(BRCA2): c.8585dupT (p.Glu2863Argfs)duplicationPathogenicrs80359720GRCh37Chr 13, 32945190: 32945190
385BRCA2NM_ 000059.3(BRCA2): c.8677C> T (p.Gln2893Ter)SNVPathogenicrs397507409GRCh37Chr 13, 32950851: 32950851
386BRCA2NM_ 000059.3(BRCA2): c.8680delC (p.Gln2894Lysfs)deletionPathogenicrs397507410GRCh37Chr 13, 32950854: 32950854
387BRCA2NM_ 000059.3(BRCA2): c.8904delC (p.Val2969Cysfs)deletionPathogenicrs80359730GRCh37Chr 13, 32953603: 32953603
388BRCA2NM_ 000059.3(BRCA2): c.8953+1G> TSNVPathogenicrs81002882GRCh37Chr 13, 32953653: 32953653
389BRCA2NM_ 000059.3(BRCA2): c.9026_ 9030delATCAT (p.Tyr3009Serfs)deletionPathogenicrs80359741GRCh37Chr 13, 32953959: 32953963
390BRCA2NM_ 000059.3(BRCA2): c.9076C> T (p.Gln3026Ter)SNVPathogenicrs80359159GRCh37Chr 13, 32954009: 32954009
391BRCA2NM_ 000059.3(BRCA2): c.9097dupA (p.Thr3033Asnfs)duplicationPathogenicrs397507419GRCh37Chr 13, 32954030: 32954030
392BRCA2NM_ 000059.3(BRCA2): c.9117G> A (p.Pro3039=)SNVPathogenicrs28897756GRCh37Chr 13, 32954050: 32954050
393BRCA2NM_ 000059.3(BRCA2): c.9253dupA (p.Thr3085Asnfs)duplicationPathogenicrs80359752GRCh37Chr 13, 32954279: 32954279
394BRCA2NM_ 000059.3(BRCA2): c.9294C> G (p.Tyr3098Ter)SNVPathogenicrs80359200GRCh37Chr 13, 32968863: 32968863
395BRCA2NM_ 000059.3(BRCA2): c.9401delG (p.Gly3134Alafs)deletionPathogenicrs80359759GRCh37Chr 13, 32968970: 32968970
396BRCA2NM_ 000059.3(BRCA2): c.9435_ 9436delGT (p.Ser3147Cysfs)deletionPathogenicrs80359763GRCh37Chr 13, 32969004: 32969005
397BRCA2NM_ 000059.3(BRCA2): c.9699_ 9702delTATG (p.Cys3233Trpfs)deletionPathogenicrs80359775GRCh37Chr 13, 32972349: 32972352
398BRCA1NM_ 007294.3(BRCA1): c.445delG (p.Glu149Lysfs)deletionPathogenicrs1060502327GRCh38Chr 17, 43099877: 43099877
399BRCA1NM_ 007294.3(BRCA1): c.4996_ 4997dupTA (p.Lys1667Thrfs)duplicationPathogenicGRCh38Chr 17, 43067685: 43067686
400BRCA1NM_ 007294.3(BRCA1): c.2130delTinsAA (p.Cys712Valfs)indelPathogenicrs1060502332GRCh38Chr 17, 43093401: 43093401
401BRCA1NM_ 007294.3(BRCA1): c.2209delA (p.Thr737Glnfs)deletionPathogenicrs1060502333GRCh38Chr 17, 43093322: 43093322
402BRCA1NM_ 007294.3(BRCA1): c.1949dupT (p.Lys652Glufs)duplicationPathogenicGRCh38Chr 17, 43093582: 43093582
403BRCA1NM_ 007294.3(BRCA1): c.796_ 807delGTTTCAAACTTGinsA (p.Val266Thrfs)indelPathogenicGRCh38Chr 17, 43094724: 43094735
404BRCA1NM_ 007294.3(BRCA1): c.2273T> A (p.Leu758Ter)SNVPathogenicrs1060502334GRCh38Chr 17, 43093258: 43093258
405BRCA1NM_ 007294.3(BRCA1): c.4064_ 4066delATCinsT (p.Asn1355Ilefs)indelPathogenicrs1060502345GRCh38Chr 17, 43091465: 43091467
406BRCA1NM_ 007294.3(BRCA1): c.2311_ 2317delTTGGTAC (p.Pro773Leufs)deletionPathogenicrs1060502354GRCh37Chr 17, 41245231: 41245237
407BRCA1NM_ 007294.3(BRCA1): c.5277+1_ 5277+6deldeletionLikely pathogenicrs1060502356GRCh38Chr 17, 43057046: 43057051
408BRCA1NM_ 007294.3(BRCA1): c.885_ 888delCAGA (p.Asp295Glufs)deletionPathogenicrs1060502359GRCh38Chr 17, 43094643: 43094646
409BRCA1NM_ 007294.3(BRCA1): c.744delC (p.Thr249Leufs)deletionPathogenicrs1060502360GRCh38Chr 17, 43094787: 43094787
410BRCA1NM_ 007294.3(BRCA1): c.460_ 467delGTCCAACT (p.Val154Leufs)deletionPathogenicrs1060502362GRCh37Chr 17, 41251872: 41251879
411BRCA2NM_ 000059.3(BRCA2): c.898_ 900delGTAinsTT (p.Val300Leufs)indelPathogenicrs1060502385GRCh38Chr 13, 32332376: 32332378
412BRCA2NM_ 000059.3(BRCA2): c.4877dupA (p.Asn1626Lysfs)duplicationPathogenicGRCh38Chr 13, 32339232: 32339232
413BRCA2NM_ 000059.3(BRCA2): c.2976delA (p.Lys992Asnfs)deletionPathogenicrs1060502391GRCh38Chr 13, 32337331: 32337331
414BRCA2NM_ 000059.3(BRCA2): c.6574delA (p.Met2192Trpfs)deletionPathogenicrs1060502392GRCh37Chr 13, 32915066: 32915066
415BRCA2NM_ 000059.3(BRCA2): c.681+1G> TSNVLikely pathogenicrs398122565GRCh38Chr 13, 32329493: 32329493
416BRCA2NM_ 000059.3(BRCA2): c.1333dupT (p.Ser445Phefs)duplicationPathogenicGRCh38Chr 13, 32332811: 32332811
417BRCA2NM_ 000059.3(BRCA2): c.471delG (p.Lys157Asnfs)deletionPathogenicrs1060502395GRCh38Chr 13, 32326146: 32326146
418BRCA2NM_ 000059.3(BRCA2): c.6220delC (p.His2074Thrfs)deletionPathogenicrs1060502400GRCh38Chr 13, 32340575: 32340575
419BRCA2NM_ 000059.3(BRCA2): c.1192delC (p.Leu398Terfs)deletionPathogenicrs1060502403GRCh38Chr 13, 32332670: 32332670
420BRCA2NM_ 000059.3(BRCA2): c.8426dupT (p.Ser2810Glnfs)duplicationPathogenicGRCh38Chr 13, 32370496: 32370496
421BRCA2NM_ 000059.3(BRCA2): c.1792dupA (p.Thr598Asnfs)duplicationPathogenicGRCh38Chr 13, 32333270: 32333270
422BRCA2NM_ 000059.3(BRCA2): c.203_ 218del16 (p.Lys68Serfs)deletionPathogenicGRCh38Chr 13, 32319212: 32319227
423BRCA2NM_ 000059.3(BRCA2): c.2590C> T (p.Gln864Ter)SNVPathogenicrs1060502414GRCh38Chr 13, 32336945: 32336945
424BRCA2NM_ 000059.3(BRCA2): c.3478_ 3481delAGAGinsTGAGGA (p.Arg1160Terfs)indelPathogenicGRCh38Chr 13, 32337833: 32337836
425BRCA2NM_ 000059.3(BRCA2): c.4273delG (p.Asp1425Ilefs)deletionPathogenicrs1060502426GRCh38Chr 13, 32338628: 32338628
426BRCA2NM_ 000059.3(BRCA2): c.5653delT (p.Cys1885Alafs)deletionPathogenicrs1060502430GRCh38Chr 13, 32340008: 32340008
427BRCA2NM_ 000059.3(BRCA2): c.632-2A> CSNVPathogenicrs397507842GRCh38Chr 13, 32329441: 32329441
428BRCA2NM_ 000059.3(BRCA2): c.7722G> A (p.Trp2574Ter)SNVPathogenicrs1060502433GRCh38Chr 13, 32357846: 32357846
429BRCA2NM_ 000059.3(BRCA2): c.7115_ 7120delCAAGCAinsGC (p.Ser2372Cysfs)indelPathogenicGRCh38Chr 13, 32354968: 32354973
430BRCA2NM_ 000059.3(BRCA2): c.2474delA (p.Asn825Metfs)deletionPathogenicrs1060502437GRCh38Chr 13, 32336829: 32336829
431BRCA2NM_ 000059.3(BRCA2): c.9284A> G (p.Asp3095Gly)SNVLikely pathogenicrs1060502443GRCh38Chr 13, 32394716: 32394716
432BRCA2NM_ 000059.3(BRCA2): c.6074_ 6075delTC (p.Leu2025Hisfs)deletionPathogenicrs1060502444GRCh38Chr 13, 32340429: 32340430
433BRCA2NM_ 000059.3(BRCA2): c.3106G> T (p.Glu1036Ter)SNVPathogenicrs1060502449GRCh38Chr 13, 32337461: 32337461
434BRCA2NM_ 000059.3(BRCA2): c.959delT (p.Leu320Hisfs)deletionPathogenicrs1060502454GRCh38Chr 13, 32332437: 32332437
435BRCA2NM_ 000059.3(BRCA2): c.1982delG (p.Ser661Thrfs)deletionPathogenicrs1060502455GRCh38Chr 13, 32336337: 32336337
436BRCA2NM_ 000059.3(BRCA2): c.3191C> A (p.Ser1064Ter)SNVPathogenicrs864622609GRCh38Chr 13, 32337546: 32337546
437BRCA2NM_ 000059.3(BRCA2): c.9311_ 9312insTTAT (p.Lys3104Asnfs)insertionPathogenicrs886040830GRCh38Chr 13, 32394743: 32394744
438BRCA2NM_ 000059.3(BRCA2): c.522delT (p.Gln175Argfs)deletionPathogenicrs1060502465GRCh38Chr 13, 32326504: 32326504
439BRCA2NM_ 000059.3(BRCA2): c.8607delT (p.Gln2870Argfs)deletionPathogenicrs1060502471GRCh38Chr 13, 32371075: 32371075
440BRCA2NM_ 000059.3(BRCA2): c.3077delA (p.Lys1026Argfs)deletionPathogenicrs1060502475GRCh38Chr 13, 32337432: 32337432
441BRCA2NM_ 000059.3(BRCA2): c.7819delA (p.Thr2607Leufs)deletionPathogenicrs1060502478GRCh38Chr 13, 32362536: 32362536
442BRCA2NM_ 000059.3(BRCA2): c.9097_ 9098insT (p.Thr3033Ilefs)insertionPathogenicrs397507419GRCh38Chr 13, 32379893: 32379894
443BRCA2NM_ 000059.3(BRCA2): c.7447delA (p.Ser2483Valfs)deletionPathogenicrs1060502482GRCh38Chr 13, 32356439: 32356439
444BRCA2NM_ 000059.3(BRCA2): c.2235delA (p.Val746Trpfs)deletionPathogenicrs1060502484GRCh38Chr 13, 32336590: 32336590
445BRCA2NM_ 000059.3(BRCA2): c.426-1G> ASNVLikely pathogenicrs1060502485GRCh37Chr 13, 32900237: 32900237
446BRCA2NM_ 000059.3(BRCA2): c.3515C> A (p.Ser1172Ter)SNVPathogenicrs80358600GRCh38Chr 13, 32337870: 32337870
447BRCA2NM_ 000059.3(BRCA2): c.7823dupC (p.Gly2609Argfs)duplicationPathogenicGRCh38Chr 13, 32362540: 32362540
448BRCA2NM_ 000059.3(BRCA2): c.5482_ 5486delAAATT (p.Lys1828Valfs)deletionPathogenicrs80359516GRCh37Chr 13, 32913974: 32913978
449BRCA1NC_ 000017.11: g.(?_ 43076488)_ (43082575_ ?)dupduplicationLikely pathogenicGRCh37Chr 17, 41228505: 41234592
450BRCA1NM_ 007294.3(BRCA1): c.5278-?_ 5406+?dup129duplicationLikely pathogenicGRCh37Chr 17, 41201138: 41203134
451BRCA1NM_ 007294.3(BRCA1): c.5075-?_ 5193+?dup119duplicationPathogenicGRCh38Chr 17, 43063333: 43063951
452BRCA2NC_ 000013.11: g.(?_ 32316422)_ (32319325_ ?)deldeletionPathogenicGRCh37Chr 13, 32890559: 32893462
453BRCA2NC_ 000013.11: g.(?_ 32316422)_ (32355288_ ?)deldeletionPathogenicGRCh37Chr 13, 32890559: 32929425
454BRCA2NM_ 000059.3(BRCA2): c.7436-?_ 7805+?deldeletionPathogenicGRCh38Chr 13, 32356428: 32357929
455BRCA2NC_ 000013.11: g.(?_ 32319077)_ (32319325_ ?)deldeletionPathogenicGRCh38Chr 13, 32319077: 32319325
456BRCA1NC_ 000017.11: g.(?_ 43047643)_ (43124115_ ?)deldeletionPathogenicGRCh37Chr 17, 41199660: 41276132
457BRCA1NM_ 007294.3(BRCA1): c.4358-?_ 5074+?deldeletionLikely pathogenicGRCh38Chr 17, 43067608: 43076614
458BRCA1NC_ 000017.11: g.(?_ 43044295)_ (43057135_ ?)deldeletionPathogenicGRCh38Chr 17, 43044295: 43057135
459BRCA1NC_ 000017.11: g.(?_ 43063333)_ (43124115_ ?)deldeletionPathogenicGRCh38Chr 17, 43063333: 43124115
460BRCA1NC_ 000017.11: g.(?_ 43082404)_ (43124115_ ?)deldeletionPathogenicGRCh38Chr 17, 43082404: 43124115
461BRCA1NM_ 007294.3(BRCA1): c.4676-?_ 4986+?deldeletionPathogenicGRCh37Chr 17, 41222945: 41223255
462BRCA1NM_ 007294.3(BRCA1): c.5075-?_ 5193+?deldeletionPathogenicGRCh38Chr 17, 43063333: 43063951
463BRCA1NM_ 007294.3(BRCA1): c.5278-?_ 5406+?deldeletionPathogenicGRCh37Chr 17, 41201138: 41203134
464BRCA1NC_ 000017.11: g.(?_ 43044295)_ (43045802_ ?)deldeletionPathogenicGRCh37Chr 17, 41196312: 41197819
465BRCA1NC_ 000017.11: g.(?_ 43044295)_ (43099880_ ?)deldeletionPathogenicGRCh38Chr 17, 43044295: 43099880
466BRCA1NC_ 000017.11: g.(?_ 43044295)_ (43124115_ ?)deldeletionPathogenicGRCh38Chr 17, 43044295: 43124115
467BRCA2NM_ 000059.3(BRCA2): c.1103C> A (p.Ser368Ter)SNVPathogenicrs80358407GRCh37Chr 13, 32906718: 32906718
468BRCA2NM_ 000059.3(BRCA2): c.1138delA (p.Ser380Valfs)deletionPathogenicrs80359264GRCh37Chr 13, 32906753: 32906753
469BRCA2NM_ 000059.3(BRCA2): c.115delG (p.Ala39Leufs)deletionPathogenicrs397507573GRCh37Chr 13, 32893261: 32893261
470BRCA2NM_ 000059.3(BRCA2): c.1189_ 1190insTTAG (p.Gln397Leufs)insertionPathogenicrs397515635GRCh37Chr 13, 32906804: 32906805
471BRCA2NM_ 000059.3(BRCA2): c.1327G> T (p.Glu443Ter)SNVPathogenicrs397507579GRCh37Chr 13, 32906942: 32906942
472BRCA2NM_ 000059.3(BRCA2): c.1389_ 1390delAG (p.Val464Glyfs)deletionPathogenicrs80359283GRCh37Chr 13, 32907004: 32907005
473BRCA2NM_ 000059.3(BRCA2): c.1411G> T (p.Glu471Ter)SNVPathogenicrs80358428GRCh37Chr 13, 32907026: 32907026
474BRCA2NM_ 000059.3(BRCA2): c.1414C> T (p.Gln472Ter)SNVPathogenicrs80358429GRCh37Chr 13, 32907029: 32907029
475BRCA2NM_ 000059.3(BRCA2): c.145G> T (p.Glu49Ter)SNVPathogenicrs80358435GRCh37Chr 13, 32893291: 32893291
476BRCA2NM_ 000059.3(BRCA2): c.1511_ 1512delCT (p.Ser504Tyrfs)deletionPathogenicrs80359286GRCh37Chr 13, 32907126: 32907127
477BRCA2NM_ 000059.3(BRCA2): c.1654delT (p.Ser552Profs)deletionPathogenicrs80359297GRCh37Chr 13, 32907269: 32907269
478BRCA2NM_ 000059.3(BRCA2): c.1689G> A (p.Trp563Ter)SNVPathogenicrs80358456GRCh37Chr 13, 32907304: 32907304
479BRCA2NM_ 000059.3(BRCA2): c.1748T> A (p.Leu583Ter)SNVPathogenicrs397507604GRCh37Chr 13, 32907363: 32907363
480BRCA2NM_ 000059.3(BRCA2): c.1754delA (p.Lys585Argfs)deletionPathogenicrs80359301GRCh37Chr 13, 32907369: 32907369
481BRCA2NM_ 000059.3(BRCA2): c.1763_ 1766delATAA (p.Asn588Serfs)deletionPathogenicrs80359303GRCh37Chr 13, 32907378: 32907381
482BRCA2NM_ 000059.3(BRCA2): c.1773_ 1776delTTAT (p.Ile591Metfs)deletionPathogenicrs80359304GRCh37Chr 13, 32907388: 32907391
483BRCA2NM_ 000059.3(BRCA2): c.1797_ 1801delTTATA (p.Tyr600Argfs)deletionPathogenicrs397507607GRCh37Chr 13, 32907412: 32907416
484BRCA2NM_ 000059.3(BRCA2): c.1855C> T (p.Gln619Ter)SNVPathogenicrs80358476GRCh37Chr 13, 32907470: 32907470
485BRCA2NM_ 000059.3(BRCA2): c.1889delC (p.Thr630Asnfs)deletionPathogenicrs80359315GRCh37Chr 13, 32907504: 32907504
486BRCA2NM_ 000059.3(BRCA2): c.196C> T (p.Gln66Ter)SNVPathogenicrs397507617GRCh37Chr 13, 32893342: 32893342
487BRCA2NM_ 000059.3(BRCA2): c.22_ 23delAG (p.Arg8Alafs)deletionPathogenicrs397507623GRCh37Chr 13, 32890619: 32890620
488BRCA2NM_ 000059.3(BRCA2): c.2376C> A (p.Tyr792Ter)SNVPathogenicrs80358503GRCh37Chr 13, 32910868: 32910868
489BRCA2NM_ 000059.3(BRCA2): c.2442delC (p.Met815Trpfs)deletionPathogenicrs397507627GRCh37Chr 13, 32910934: 32910934
490BRCA2NM_ 000059.3(BRCA2): c.2471T> G (p.Leu824Ter)SNVPathogenicrs397507631GRCh37Chr 13, 32910963: 32910963
491BRCA2NM_ 000059.3(BRCA2): c.250C> T (p.Gln84Ter)SNVPathogenicrs80358515GRCh37Chr 13, 32893396: 32893396
492BRCA2NM_ 000059.3(BRCA2): c.2564_ 2565delCA (p.Thr855Lysfs)deletionPathogenicrs80359334GRCh37Chr 13, 32911056: 32911057
493BRCA2NM_ 000059.3(BRCA2): c.262_ 263delCT (p.Leu88Alafs)deletionPathogenicrs276174825GRCh37Chr 13, 32893408: 32893409
494BRCA2NM_ 000059.3(BRCA2): c.26delC (p.Pro9Glnfs)deletionPathogenicrs80359343GRCh37Chr 13, 32890623: 32890623
495BRCA2NM_ 000059.3(BRCA2): c.2701delC (p.Ala902Leufs)deletionPathogenicrs397507637GRCh37Chr 13, 32911193: 32911193
496BRCA2NM_ 000059.3(BRCA2): c.2812_ 2815delGCAA (p.Ala938Profs)deletionPathogenicrs80359354GRCh37Chr 13, 32911304: 32911307
497BRCA2NM_ 000059.3(BRCA2): c.2836_ 2837delGA (p.Asp946Phefs)deletionPathogenicrs80359357GRCh37Chr 13, 32911328: 32911329
498BRCA2NM_ 000059.3(BRCA2): c.2836delG (p.Asp946Ilefs)deletionPathogenicrs80359358GRCh37Chr 13, 32911328: 32911328
499BRCA2NM_ 000059.3(BRCA2): c.2957dupA (p.Asn986Lysfs)duplicationPathogenicrs80359365GRCh37Chr 13, 32911449: 32911449
500BRCA2NM_ 000059.3(BRCA2): c.298A> T (p.Lys100Ter)SNVPathogenicrs80358546GRCh37Chr 13, 32893444: 32893444
501BRCA2NM_ 000059.3(BRCA2): c.2T> G (p.Met1Arg)SNVPathogenicrs80358547GRCh37Chr 13, 32890599: 32890599
502BRCA2NM_ 000059.3(BRCA2): c.3103G> T (p.Glu1035Ter)SNVPathogenicrs80358556GRCh37Chr 13, 32911595: 32911595
503BRCA2NM_ 000059.3(BRCA2): c.3166C> T (p.Gln1056Ter)SNVPathogenicrs79728106GRCh37Chr 13, 32911658: 32911658
504BRCA2NM_ 000059.3(BRCA2): c.3189_ 3192delGTCA (p.Ser1064Leufs)deletionPathogenicrs80359374GRCh37Chr 13, 32911681: 32911684
505BRCA2NM_ 000059.3(BRCA2): c.3195_ 3198delTAAT (p.Asn1066Leufs)deletionPathogenicrs80359375GRCh37Chr 13, 32911687: 32911690
506BRCA2NM_ 000059.3(BRCA2): c.3199delA (p.Thr1067Leufs)deletionPathogenicrs80359377GRCh37Chr 13, 32911691: 32911691
507BRCA2NM_ 000059.3(BRCA2): c.3554_ 3563delCAGTTGAAAT (p.Thr1185Ilefs)deletionPathogenic/ Likely pathogenicrs397507675GRCh37Chr 13, 32912046: 32912055
508BRCA2NM_ 000059.3(BRCA2): c.3599_ 3600delGT (p.Cys1200Terfs)deletionPathogenicrs80359391GRCh37Chr 13, 32912091: 32912092
509BRCA2NM_ 000059.3(BRCA2): c.3680_ 3681delTG (p.Leu1227Glnfs)deletionPathogenicrs80359395GRCh37Chr 13, 32912172: 32912173
510BRCA2NM_ 000059.3(BRCA2): c.3785C> G (p.Ser1262Ter)SNVPathogenicrs80358620GRCh37Chr 13, 32912277: 32912277
511BRCA2NM_ 000059.3(BRCA2): c.3836delA (p.Asn1279Metfs)deletionPathogenicrs397507690GRCh37Chr 13, 32912328: 32912328
512BRCA2NM_ 000059.3(BRCA2): c.3860delA (p.Asn1287Ilefs)deletionPathogenicrs80359406GRCh37Chr 13, 32912352: 32912352
513BRCA2NM_ 000059.3(BRCA2): c.3887delA (p.Asn1296Ilefs)deletionPathogenicrs397507695GRCh37Chr 13, 32912379: 32912379
514BRCA2NM_ 000059.3(BRCA2): c.3975_ 3978dupTGCT (p.Ala1327Cysfs)duplicationPathogenicrs397515636GRCh37Chr 13, 32912467: 32912470
515BRCA2NM_ 000059.3(BRCA2): c.3G> A (p.Met1Ile)SNVPathogenicrs80358650GRCh37Chr 13, 32890600: 32890600
516BRCA2NM_ 000059.3(BRCA2): c.4111C> T (p.Gln1371Ter)SNVPathogenicrs80358659GRCh37Chr 13, 32912603: 32912603
517BRCA2NM_ 000059.3(BRCA2): c.4133_ 4136delCTCA (p.Thr1378Argfs)deletionPathogenicrs80359430GRCh37Chr 13, 32912625: 32912628
518BRCA2NM_ 000059.3(BRCA2): c.4218_ 4221delAGAA (p.Lys1406Asnfs)deletionPathogenicrs80359435GRCh37Chr 13, 32912710: 32912713
519BRCA2NM_ 000059.3(BRCA2): c.4285C> T (p.Gln1429Ter)SNVPathogenicrs80358665GRCh37Chr 13, 32912777: 32912777
520BRCA2NM_ 000059.3(BRCA2): c.4325C> A (p.Ser1442Ter)SNVPathogenicrs80358670GRCh37Chr 13, 32912817: 32912817
521BRCA2NM_ 000059.3(BRCA2): c.4398_ 4402delACATT (p.Leu1466Phefs)deletionPathogenicrs80359444GRCh37Chr 13, 32912890: 32912894
522BRCA2NM_ 000059.3(BRCA2): c.4409_ 4413delTAAGA (p.Ile1470Lysfs)deletionPathogenicrs397507718GRCh37Chr 13, 32912901: 32912905
523BRCA2NM_ 000059.3(BRCA2): c.4456_ 4459delGTTA (p.Val1486Asnfs)deletionPathogenicrs80359449GRCh37Chr 13, 32912948: 32912951
524BRCA2NM_ 000059.3(BRCA2): c.4471_ 4474delCTGA (p.Leu1491Lysfs)deletionPathogenicrs80359451GRCh37Chr 13, 32912963: 32912966
525BRCA2NM_ 000059.3(BRCA2): c.4478_ 4481delAAAG (p.Glu1493Valfs)deletionPathogenicrs80359454GRCh37Chr 13, 32912970: 32912973
526BRCA2NM_ 000059.3(BRCA2): c.4551_ 4554delAGAA (p.Lys1517Asnfs)deletionPathogenicrs80359457GRCh37Chr 13, 32913043: 32913046
527BRCA2NM_ 000059.3(BRCA2): c.4588A> T (p.Lys1530Ter)SNVPathogenicrs80358692GRCh37Chr 13, 32913080: 32913080
528BRCA2NM_ 000059.3(BRCA2): c.4638dupT (p.Asp1547Terfs)duplicationPathogenicrs397507733GRCh37Chr 13, 32913130: 32913130
529BRCA2NM_ 000059.3(BRCA2): c.475+1G> TSNVPathogenic/ Likely pathogenicrs81002797GRCh37Chr 13, 32900288: 32900288
530BRCA2NM_ 000059.3(BRCA2): c.4829_ 4830delTG (p.Val1610Glyfs)deletionPathogenicrs80359468GRCh37Chr 13, 32913321: 32913322
531BRCA2NM_ 000059.3(BRCA2): c.4889C> G (p.Ser1630Ter)SNVPathogenicrs80358711GRCh37Chr 13, 32913381: 32913381
532BRCA2NM_ 000059.3(BRCA2): c.4947_ 4948delAA (p.Pro1651Cysfs)deletionPathogenicrs80359474GRCh37Chr 13, 32913439: 32913440
533BRCA2NM_ 000059.3(BRCA2): c.4965delC (p.Tyr1655Terfs)deletionPathogenicrs80359475GRCh37Chr 13, 32913457: 32913457
534BRCA2NM_ 000059.3(BRCA2): c.5130_ 5133delTGTA (p.Tyr1710Terfs)deletionPathogenicrs80359484GRCh37Chr 13, 32913622: 32913625
535BRCA2NM_ 000059.3(BRCA2): c.5146_ 5149delTATG (p.Tyr1716Lysfs)deletionPathogenicrs276174854GRCh37Chr 13, 32913638: 32913641
536BRCA2NM_ 000059.3(BRCA2): c.5158dupT (p.Ser1720Phefs)duplicationPathogenicrs80359489GRCh37Chr 13, 32913650: 32913650
537BRCA2NM_ 000059.3(BRCA2): c.5164_ 5165delAG (p.Ser1722Tyrfs)deletionPathogenicrs80359490GRCh37Chr 13, 32913656: 32913657
538BRCA2NM_ 000059.3(BRCA2): c.517-2A> GSNVPathogenic/ Likely pathogenicrs81002858GRCh37Chr 13, 32900634: 32900634
539BRCA2NM_ 000059.3(BRCA2): c.5217_ 5223delTTTAAGT (p.Tyr1739Terfs)deletionPathogenicrs80359496GRCh37Chr 13, 32913709: 32913715
540BRCA2NM_ 000059.3(BRCA2): c.5217_ 5224delTTTAAGTA (p.Tyr1739Terfs)deletionPathogenicrs80359497GRCh37Chr 13, 32913709: 32913716
541BRCA2NM_ 000059.3(BRCA2): c.5279C> G (p.Ser1760Ter)SNVPathogenicrs80358751GRCh37Chr 13, 32913771: 32913771
542BRCA2NM_ 000059.3(BRCA2): c.5439delT (p.Val1814Terfs)deletionPathogenicrs397507785GRCh37Chr 13, 32913931: 32913931
543BRCA2NM_ 000059.3(BRCA2): c.5542delA (p.Ser1848Valfs)deletionPathogenicrs80359519GRCh37Chr 13, 32914034: 32914034
544BRCA2NM_ 000059.3(BRCA2): c.5569_ 5573delGAAAC (p.Glu1857Asnfs)deletionPathogenicrs397507788GRCh37Chr 13, 32914061: 32914065
545BRCA2NM_ 000059.3(BRCA2): c.5583dupA (p.Val1862Serfs)duplicationPathogenicrs397507790GRCh37Chr 13, 32914075: 32914075
546BRCA2NM_ 000059.3(BRCA2): c.5609_ 5610delTCinsAG (p.Phe1870Ter)indelPathogenicrs276174859GRCh37Chr 13, 32914101: 32914102
547BRCA2NM_ 000059.3(BRCA2): c.5616_ 5620delAGTAA (p.Lys1872Asnfs)deletionPathogenicrs80359525GRCh37Chr 13, 32914108: 32914112
548BRCA2NM_ 000059.3(BRCA2): c.5656C> T (p.Gln1886Ter)SNVPathogenicrs80358790GRCh37Chr 13, 32914148: 32914148
549BRCA2NM_ 000059.3(BRCA2): c.5796_ 5797delTA (p.His1932Glnfs)deletionPathogenicrs80359537GRCh37Chr 13, 32914288: 32914289
550BRCA2NM_ 000059.3(BRCA2): c.581G> A (p.Trp194Ter)SNVPathogenicrs80358809GRCh37Chr 13, 32900700: 32900700
551BRCA2NM_ 000059.3(BRCA2): c.5857G> T (p.Glu1953Ter)SNVPathogenicrs80358814GRCh37Chr 13, 32914349: 32914349
552BRCA2NM_ 000059.3(BRCA2): c.5864C> A (p.Ser1955Ter)SNVPathogenicrs80358815GRCh37Chr 13, 32914356: 32914356
553BRCA2NM_ 000059.3(BRCA2): c.5984dupA (p.Asn1995Lysfs)duplicationPathogenicrs397507818GRCh37Chr 13, 32914476: 32914476
554BRCA2NM_ 000059.3(BRCA2): c.6025C> T (p.Gln2009Ter)SNVPathogenicrs80358838GRCh37Chr 13, 32914517: 32914517
555BRCA2NM_ 000059.3(BRCA2): c.6124C> T (p.Gln2042Ter)SNVPathogenicrs80358851GRCh37Chr 13, 32914616: 32914616
556BRCA2NM_ 000059.3(BRCA2): c.6164delT (p.Phe2055Serfs)deletionPathogenicrs397507831GRCh37Chr 13, 32914656: 32914656
557BRCA2NM_ 000059.3(BRCA2): c.6216delC (p.Leu2073Tyrfs)deletionPathogenicrs80359567GRCh37Chr 13, 32914708: 32914708
558BRCA2NM_ 000059.3(BRCA2): c.6335_ 6336delGA (p.Arg2112Lysfs)deletionPathogenicrs80359574GRCh37Chr 13, 32914827: 32914828
559BRCA2NM_ 000059.3(BRCA2): c.6352_ 6353delGT (p.Val2118Lysfs)deletionPathogenicrs80359576GRCh37Chr 13, 32914844: 32914845
560BRCA2NM_ 000059.3(BRCA2): c.6445delA (p.Ile2149Leufs)deletionPathogenicrs397507856GRCh37Chr 13, 32914937: 32914937
561BRCA2NM_ 000059.3(BRCA2): c.6446_ 6450delTTAAA (p.Ile2149Serfs)deletionPathogenicrs80359593GRCh37Chr 13, 32914938: 32914942
562BRCA2NM_ 000059.3(BRCA2): c.6450dupA (p.Val2151Serfs)duplicationPathogenicrs80359595GRCh37Chr 13, 32914942: 32914942
563BRCA2NM_ 000059.3(BRCA2): c.6490C> T (p.Gln2164Ter)SNVPathogenicrs397507860GRCh37Chr 13, 32914982: 32914982
564BRCA2NM_ 000059.3(BRCA2): c.6531_ 6534delTCAT (p.Ile2177Metfs)deletionPathogenicrs397507865GRCh37Chr 13, 32915023: 32915026
565BRCA2NM_ 000059.3(BRCA2): c.6600_ 6601delTT (p.Ser2201Terfs)deletionPathogenicrs80359607GRCh37Chr 13, 32915092: 32915093
566BRCA2NM_ 000059.3(BRCA2): c.67+1G> TSNVPathogenicrs81002796GRCh37Chr 13, 32890665: 32890665
567BRCA2NM_ 000059.3(BRCA2): c.67+2T> CSNVPathogenicrs81002885GRCh37Chr 13, 32890666: 32890666
568BRCA2NM_ 000059.3(BRCA2): c.6757_ 6758delCT (p.Leu2253Phefs)deletionPathogenicrs80359623GRCh37Chr 13, 32915249: 32915250
569BRCA2NM_ 000059.3(BRCA2): c.6761_ 6762delTT (p.Phe2254Tyrfs)deletionPathogenicrs80359624GRCh37Chr 13, 32915253: 32915254
570BRCA2NM_ 000059.3(BRCA2): c.7007G> C (p.Arg2336Pro)SNVPathogenicrs28897743GRCh37Chr 13, 32921033: 32921033
571BRCA2NM_ 000059.3(BRCA2): c.7007G> T (p.Arg2336Leu)SNVPathogenic/ Likely pathogenicrs28897743GRCh37Chr 13, 32921033: 32921033
572BRCA2NM_ 000059.3(BRCA2): c.7025_ 7026delAA (p.Gln2342Argfs)deletionPathogenicrs80359634GRCh37Chr 13, 32929015: 32929016
573BRCA2NM_ 000059.3(BRCA2): c.7180A> T (p.Arg2394Ter)SNVPathogenicrs80358946GRCh37Chr 13, 32929170: 32929170
574BRCA2NM_ 000059.3(BRCA2): c.7208_ 7211delCCAA (p.Thr2403Lysfs)deletionPathogenicrs80359641GRCh37Chr 13, 32929198: 32929201
575BRCA2NM_ 000059.3(BRCA2): c.7251_ 7252delCA (p.His2417Glnfs)deletionPathogenicrs397507907GRCh37Chr 13, 32929241: 32929242
576BRCA2NM_ 000059.3(BRCA2): c.729_ 732delTGAT (p.Asn243Lysfs)deletionPathogenicrs80359645GRCh37Chr 13, 32905103: 32905106
577BRCA2NM_ 000059.3(BRCA2): c.7360delA (p.Ile2454Phefs)deletionPathogenicrs80359646GRCh37Chr 13, 32929350: 32929350
578BRCA2NM_ 000059.3(BRCA2): c.7379delA (p.Asn2460Thrfs)deletionPathogenicrs397507914GRCh37Chr 13, 32929369: 32929369
579BRCA2NM_ 000059.3(BRCA2): c.7558C> T (p.Arg2520Ter)SNVPathogenicrs80358981GRCh37Chr 13, 32930687: 32930687
580BRCA2NM_ 000059.3(BRCA2): c.7617+1G> ASNVPathogenicrs397507922GRCh37Chr 13, 32930747: 32930747
581BRCA2NM_ 000059.3(BRCA2): c.7617+2T> GSNVPathogenicrs81002843GRCh37Chr 13, 32930748: 32930748
582BRCA2NM_ 000059.3(BRCA2): c.7721G> A (p.Trp2574Ter)SNVPathogenicrs80358997GRCh37Chr 13, 32931982: 32931982
583BRCA2NM_ 000059.3(BRCA2): c.772C> T (p.Gln258Ter)SNVPathogenicrs80358998GRCh37Chr 13, 32905146: 32905146
584BRCA2NM_ 000059.3(BRCA2): c.7757G> A (p.Trp2586Ter)SNVPathogenicrs80359003GRCh37Chr 13, 32932018: 32932018
585BRCA2NM_ 000059.3(BRCA2): c.7762delA (p.Ile2588Tyrfs)deletionPathogenicrs80359679GRCh37Chr 13, 32932023: 32932023
586BRCA2NM_ 000059.3(BRCA2): c.7805+1G> ASNVPathogenic/ Likely pathogenicrs81002809GRCh37Chr 13, 32932067: 32932067
587BRCA2NM_ 000059.3(BRCA2): c.7806-2A> GSNVPathogenic/ Likely pathogenicrs81002836GRCh37Chr 13, 32936658: 32936658
588BRCA2NM_ 000059.3(BRCA2): c.7856G> A (p.Trp2619Ter)SNVPathogenicrs397507941GRCh37Chr 13, 32936710: 32936710
589BRCA2NM_ 000059.3(BRCA2): c.7879A> T (p.Ile2627Phe)SNVPathogenicrs80359014GRCh37Chr 13, 32936733: 32936733
590BRCA2NM_ 000059.3(BRCA2): c.793+1G> ASNVPathogenic/ Likely pathogenicrs81002846GRCh37Chr 13, 32905168: 32905168
591BRCA2NM_ 000059.3(BRCA2): c.7934delG (p.Arg2645Asnfs)deletionPathogenicrs80359688GRCh37Chr 13, 32936788: 32936788
592BRCA2NM_ 000059.3(BRCA2): c.7988A> T (p.Glu2663Val)SNVPathogenicrs80359031GRCh37Chr 13, 32937327: 32937327
593BRCA2NM_ 000059.3(BRCA2): c.8009C> T (p.Ser2670Leu)SNVPathogenic/ Likely pathogenicrs80359035GRCh37Chr 13, 32937348: 32937348
594BRCA2NM_ 000059.3(BRCA2): c.8023A> G (p.Ile2675Val)SNVPathogenic/ Likely pathogenicrs397507954GRCh37Chr 13, 32937362: 32937362
595BRCA2NM_ 000059.3(BRCA2): c.8053dupA (p.Thr2685Asnfs)duplicationPathogenicrs397507959GRCh37Chr 13, 32937392: 32937392
596BRCA2NM_ 000059.3(BRCA2): c.8067T> A (p.Cys2689Ter)SNVPathogenicrs80359046GRCh37Chr 13, 32937406: 32937406
597BRCA2NM_ 000059.3(BRCA2): c.8070_ 8071dupTT (p.Ser2691Phefs)duplicationPathogenicrs397507962GRCh37Chr 13, 32937409: 32937410
598BRCA2NM_ 000059.3(BRCA2): c.8167G> C (p.Asp2723His)SNVPathogenicrs41293511GRCh37Chr 13, 32937506: 32937506
599BRCA2NM_ 000059.3(BRCA2): c.8243G> A (p.Gly2748Asp)SNVPathogenicrs80359071GRCh37Chr 13, 32937582: 32937582
600BRCA2NM_ 000059.3(BRCA2): c.8247_ 8248delGA (p.Lys2750Aspfs)deletionPathogenicrs80359701GRCh37Chr 13, 32937586: 32937587
601BRCA2NM_ 000059.3(BRCA2): c.8487+1G> ASNVPathogenicrs81002798GRCh37Chr 13, 32944695: 32944695
602BRCA2NM_ 000059.3(BRCA2): c.8489G> A (p.Trp2830Ter)SNVPathogenicrs80359101GRCh37Chr 13, 32945094: 32945094
603BRCA2NM_ 000059.3(BRCA2): c.8560delT (p.Tyr2854Metfs)deletionPathogenicrs80359717GRCh37Chr 13, 32945165: 32945165
604BRCA2NM_ 000059.3(BRCA2): c.8575C> T (p.Gln2859Ter)SNVPathogenicrs80359115GRCh37Chr 13, 32945180: 32945180
605BRCA2NM_ 000059.3(BRCA2): c.8594dupT (p.Leu2865Phefs)duplicationPathogenicrs80359721GRCh37Chr 13, 32945199: 32945199
606BRCA2NM_ 000059.3(BRCA2): c.8673_ 8674delAA (p.Arg2892Thrfs)deletionPathogenicrs80359724GRCh37Chr 13, 32950847: 32950848
607BRCA2NM_ 000059.3(BRCA2): c.8754+3G> CSNVPathogenic/ Likely pathogenicrs397508007GRCh37Chr 13, 32950931: 32950931
608BRCA2NM_ 000059.3(BRCA2): c.8770G> T (p.Glu2924Ter)SNVPathogenicrs80359133GRCh37Chr 13, 32953469: 32953469
609BRCA2NM_ 000059.3(BRCA2): c.8878C> T (p.Gln2960Ter)SNVPathogenicrs80359140GRCh37Chr 13, 32953577: 32953577
610BRCA2NM_ 000059.3(BRCA2): c.8915delT (p.Leu2972Cysfs)deletionPathogenicrs397508019GRCh37Chr 13, 32953614: 32953614
611BRCA2NM_ 000059.3(BRCA2): c.8961_ 8964delGAGT (p.Ser2988Phefs)deletionPathogenicrs80359734GRCh37Chr 13, 32953894: 32953897
612BRCA2NM_ 000059.3(BRCA2): c.8970G> A (p.Trp2990Ter)SNVPathogenicrs80359149GRCh37Chr 13, 32953903: 32953903
613BRCA2NM_ 000059.3(BRCA2): c.8988_ 8990delATAinsTT (p.Leu2996Phefs)indelPathogenicrs397508027GRCh37Chr 13, 32953921: 32953923
614BRCA2NM_ 000059.3(BRCA2): c.9154C> T (p.Arg3052Trp)SNVPathogenicrs45580035GRCh37Chr 13, 32954180: 32954180
615BRCA2NM_ 000059.3(BRCA2): c.9182T> A (p.Leu3061Ter)SNVPathogenicrs80359175GRCh37Chr 13, 32954208: 32954208
616BRCA2NM_ 000059.3(BRCA2): c.9253delA (p.Thr3085Glnfs)deletionPathogenicrs397508041GRCh37Chr 13, 32954279: 32954279
617BRCA2NM_ 000059.3(BRCA2): c.9257-1G> CSNVPathogenic/ Likely pathogenicrs81002889GRCh37Chr 13, 32968825: 32968825
618BRCA2NM_ 000059.3(BRCA2): c.9275_ 9278delATTT (p.Tyr3092Cysfs)deletionPathogenicrs80359754GRCh37Chr 13, 32968844: 32968847
619BRCA2NM_ 000059.3(BRCA2): c.92G> A (p.Trp31Ter)SNVPathogenicrs397508045GRCh37Chr 13, 32893238: 32893238
620BRCA2NM_ 000059.3(BRCA2): c.9376C> T (p.Gln3126Ter)SNVPathogenicrs80359210GRCh37Chr 13, 32968945: 32968945
621BRCA2NM_ 000059.3(BRCA2): c.9382C> T (p.Arg3128Ter)SNVPathogenicrs80359212GRCh37Chr 13, 32968951: 32968951
622BRCA2NM_ 000059.3(BRCA2): c.93G> A (p.Trp31Ter)SNVPathogenicrs80359214GRCh37Chr 13, 32893239: 32893239
623BRCA2NM_ 000059.3(BRCA2): c.9403delC (p.Leu3135Phefs)deletionPathogenicrs80359760GRCh37Chr 13, 32968972: 32968972
624BRCA2NM_ 000059.3(BRCA2): c.956dupA (p.Asn319Lysfs)duplicationPathogenicrs80359770GRCh37Chr 13, 32906571: 32906571
625BRCA2NM_ 000059.3(BRCA2): c.9924C> G (p.Tyr3308Ter)SNVPathogenicrs4987049GRCh37Chr 13, 32972574: 32972574
626BRCA1NM_ 007294.3(BRCA1): c.1011dupA (p.Val340Glyfs)duplicationPathogenicrs80357569GRCh37Chr 17, 41246532: 41246532
627BRCA1NM_ 007294.3(BRCA1): c.1066C> T (p.Gln356Ter)SNVPathogenicrs80357215GRCh37Chr 17, 41246482: 41246482
628BRCA1NM_ 007294.3(BRCA1): c.112_ 113delAA (p.Lys38Valfs)deletionPathogenicrs80357949GRCh37Chr 17, 41267764: 41267765
629BRCA1NM_ 007294.3(BRCA1): c.1188delT (p.Asp396Glufs)deletionPathogenicrs397508845GRCh37Chr 17, 41246360: 41246360
630BRCA1NM_ 007294.3(BRCA1): c.1204delG (p.Glu402Serfs)deletionPathogenicrs80357859GRCh37Chr 17, 41246344: 41246344
631BRCA1NM_ 007294.3(BRCA1): c.122A> G (p.His41Arg)SNVPathogenicrs80357276GRCh37Chr 17, 41267755: 41267755
632BRCA1NM_ 007294.3(BRCA1): c.133_ 134+3delAAGTAinsTindelPathogenicrs397508856GRCh37Chr 17, 41267740: 41267744
633BRCA1NM_ 007294.3(BRCA1): c.135-1G> CSNVPathogenicrs80358158GRCh37Chr 17, 41258551: 41258551
634BRCA1NM_ 007294.3(BRCA1): c.1380dupA (p.Phe461Ilefs)duplicationPathogenicrs80357714GRCh37Chr 17, 41246168: 41246168
635BRCA1NM_ 007294.3(BRCA1): c.1387_ 1390delAAAAinsGAAAG (p.Lys463Glufs)indelPathogenicrs397508866GRCh37Chr 17, 41246158: 41246161
636BRCA1NM_ 007294.3(BRCA1): c.1439dupA (p.Asn480Lysfs)duplicationPathogenicrs80357505GRCh37Chr 17, 41246109: 41246109
637BRCA1NM_ 007294.3(BRCA1): c.1551delT (p.Phe517Leufs)deletionPathogenicrs80357630GRCh37Chr 17, 41245997: 41245997
638BRCA1NM_ 007294.3(BRCA1): c.1561_ 1564delGCAGinsTAAA (p.Ala521Ter)indelPathogenicrs397508883GRCh37Chr 17, 41245984: 41245987
639BRCA1NM_ 007294.3(BRCA1): c.1673_ 1674delAA (p.Lys558Argfs)deletionPathogenicrs397508896GRCh37Chr 17, 41245874: 41245875
640BRCA1NM_ 007294.3(BRCA1): c.1793T> A (p.Leu598Ter)SNVPathogenicrs80357118GRCh37Chr 17, 41245755: 41245755
641BRCA1NM_ 007294.3(BRCA1): c.1823_ 1826delAGAA (p.Lys608Ilefs)deletionPathogenicrs80357585GRCh37Chr 17, 41245722: 41245725
642BRCA1NM_ 007294.3(BRCA1): c.1831delC (p.Leu611Terfs)deletionPathogenicrs397508913GRCh37Chr 17, 41245717: 41245717
643BRCA1NM_ 007294.3(BRCA1): c.1874_ 1877dupTAGT (p.Val627Serfs)duplicationPathogenicrs80357516GRCh37Chr 17, 41245671: 41245674
644BRCA1NM_ 007294.3(BRCA1): c.1881_ 1884delCAGT (p.Ser628Glufs)deletionPathogenicrs80357567GRCh37Chr 17, 41245664: 41245667
645BRCA1NM_ 007294.3(BRCA1): c.188T> A (p.Leu63Ter)SNVPathogenicrs80357086GRCh37Chr 17, 41258497: 41258497
646BRCA1NM_ 007294.3(BRCA1): c.1892dupT (p.Ser632Lysfs)duplicationPathogenicrs80357932GRCh37Chr 17, 41245656: 41245656
647BRCA1NM_ 007294.3(BRCA1): c.191G> A (p.Cys64Tyr)SNVPathogenicrs55851803GRCh37Chr 17, 41258494: 41258494
648BRCA1NM_ 007294.3(BRCA1): c.1961dupA (p.Tyr655Valfs)duplicationPathogenicrs80357853GRCh37Chr 17, 41245587: 41245587
649BRCA1NM_ 007294.3(BRCA1): c.2019delA (p.Glu673Aspfs)deletionPathogenicrs80357626GRCh37Chr 17, 41245529: 41245529
650BRCA1NM_ 007294.3(BRCA1): c.2035A> T (p.Lys679Ter)SNVPathogenicrs80357082GRCh37Chr 17, 41245513: 41245513
651BRCA1NM_ 007294.3(BRCA1): c.2037delGinsCC (p.Lys679Asnfs)indelPathogenicrs397508932GRCh37Chr 17, 41245511: 41245511
652BRCA1NM_ 007294.3(BRCA1): c.2110_ 2111delAA (p.Asn704Cysfs)deletionPathogenicrs80357814GRCh37Chr 17, 41245437: 41245438
653BRCA1NM_ 007294.3(BRCA1): c.212+1G> TSNVPathogenicrs80358042GRCh37Chr 17, 41258472: 41258472
654BRCA1NM_ 007294.3(BRCA1): c.2125_ 2126insA (p.Phe709Tyrfs)insertionPathogenicrs80357871GRCh37Chr 17, 41245422: 41245423
655BRCA1NM_ 007294.3(BRCA1): c.2157dupA (p.Glu720Argfs)duplicationPathogenicrs80357715GRCh37Chr 17, 41245391: 41245391
656BRCA1NM_ 007294.3(BRCA1): c.2176_ 2177delCT (p.Leu726Serfs)deletionPathogenicrs397508945GRCh37Chr 17, 41245371: 41245372
657BRCA1NM_ 007294.3(BRCA1): c.220C> T (p.Gln74Ter)SNVPathogenicrs80357234GRCh37Chr 17, 41256966: 41256966
658BRCA1NM_ 007294.3(BRCA1): c.2241dupC (p.Lys748Glnfs)duplicationPathogenicrs397508953GRCh37Chr 17, 41245307: 41245307
659BRCA1NM_ 007294.3(BRCA1): c.2309C> A (p.Ser770Ter)SNVPathogenicrs80357063GRCh37Chr 17, 41245239: 41245239
660BRCA1NM_ 007294.3(BRCA1): c.2338C> T (p.Gln780Ter)SNVPathogenicrs80356945GRCh37Chr 17, 41245210: 41245210
661BRCA1NM_ 007294.3(BRCA1): c.2354T> A (p.Leu785Ter)SNVPathogenicrs397508961GRCh37Chr 17, 41245194: 41245194
662BRCA1NM_ 007294.3(BRCA1): c.2359dupG (p.Glu787Glyfs)duplicationPathogenicrs80357739GRCh37Chr 17, 41245189: 41245189
663BRCA1NM_ 007294.3(BRCA1): c.2389_ 2390delGA (p.Glu797Thrfs)deletionPathogenicrs80357695GRCh37Chr 17, 41245158: 41245159
664BRCA1NM_ 007294.3(BRCA1): c.2406_ 2409delGAGT (p.Gln804Valfs)deletionPathogenicrs80357674GRCh37Chr 17, 41245139: 41245142
665BRCA1NM_ 007294.3(BRCA1): c.241C> T (p.Gln81Ter)SNVPathogenicrs80357350GRCh37Chr 17, 41256945: 41256945
666BRCA1NM_ 007294.3(BRCA1): c.2443delA (p.Ile815Phefs)deletionPathogenicrs80357598GRCh37Chr 17, 41245105: 41245105
667BRCA1NM_ 007294.3(BRCA1): c.2594delA (p.Lys865Serfs)deletionPathogenicrs80357756GRCh37Chr 17, 41244954: 41244954
668BRCA1NM_ 007294.3(BRCA1): c.2713C> T (p.Gln905Ter)SNVPathogenicrs397509002GRCh37Chr 17, 41244835: 41244835
669BRCA1NM_ 007294.3(BRCA1): c.2722G> T (p.Glu908Ter)SNVPathogenicrs80356978GRCh37Chr 17, 41244826: 41244826
670BRCA1NM_ 007294.3(BRCA1): c.2726dupA (p.Asn909Lysfs)duplicationPathogenicrs80357685GRCh37Chr 17, 41244822: 41244822
671BRCA1NM_ 007294.3(BRCA1): c.2727_ 2730delTCAA (p.Asn909Lysfs)deletionPathogenicrs80357605GRCh37Chr 17, 41244818: 41244821
672BRCA1NM_ 007294.3(BRCA1): c.2744_ 2745delCT (p.Ser915Terfs)deletionPathogenicrs80357540GRCh37Chr 17, 41244803: 41244804
673BRCA1NM_ 007294.3(BRCA1): c.2766delA (p.Val923Leufs)deletionPathogenicrs80357812GRCh37Chr 17, 41244782: 41244782
674BRCA1NM_ 007294.3(BRCA1): c.2800C> T (p.Gln934Ter)SNVPathogenicrs80357223GRCh37Chr 17, 41244748: 41244748
675BRCA1NM_ 007294.3(BRCA1): c.2834_ 2836delGTAinsC (p.Ser945Thrfs)indelPathogenicrs386134270GRCh37Chr 17, 41244712: 41244714
676BRCA1NM_ 007294.3(BRCA1): c.2866_ 2870delTCTCA (p.Ser956Valfs)deletionPathogenicrs80357819GRCh37Chr 17, 41244678: 41244682
677BRCA1NM_ 007294.3(BRCA1): c.2999delA (p.Glu1000Glyfs)deletionPathogenicrs80357991GRCh37Chr 17, 41244549: 41244549
678BRCA1NM_ 007294.3(BRCA1): c.3008_ 3009delTT (p.Phe1003Terfs)deletionPathogenicrs80357617GRCh37Chr 17, 41244539: 41244540
679BRCA1NM_ 007294.3(BRCA1): c.302-2delAdeletionPathogenicrs273899695GRCh37Chr 17, 41256280: 41256280
680BRCA1NM_ 007294.3(BRCA1): c.3029_ 3030delCT (p.Pro1010Argfs)deletionPathogenicrs80357510GRCh37Chr 17, 41244518: 41244519
681BRCA1NM_ 007294.3(BRCA1): c.303T> G (p.Tyr101Ter)SNVPathogenicrs80356936GRCh37Chr 17, 41256277: 41256277
682BRCA1NM_ 007294.3(BRCA1): c.3048_ 3052dupTGAGA (p.Asn1018Metfs)duplicationPathogenicrs80357856GRCh37Chr 17, 41244496: 41244500
683BRCA1NM_ 007294.3(BRCA1): c.3084_ 3094delTAATAACATTA (p.Asn1029Argfs)deletionPathogenicrs80357647GRCh37Chr 17, 41244454: 41244464
684BRCA1NM_ 007294.3(BRCA1): c.3178G> T (p.Glu1060Ter)SNVPathogenicrs80357424GRCh37Chr 17, 41244370: 41244370
685BRCA1NM_ 007294.3(BRCA1): c.3193dupG (p.Asp1065Glyfs)duplicationPathogenicrs80357511GRCh37Chr 17, 41244355: 41244355
686BRCA1NM_ 007294.3(BRCA1): c.3214delC (p.Leu1072Terfs)deletionPathogenicrs80357923GRCh37Chr 17, 41244334: 41244334
687BRCA1NM_ 007294.3(BRCA1): c.3257T> G (p.Leu1086Ter)SNVPathogenicrs80357006GRCh37Chr 17, 41244291: 41244291
688BRCA1NM_ 007294.3(BRCA1): c.329dupA (p.Glu111Glyfs)duplicationPathogenicrs80357604GRCh37Chr 17, 41256251: 41256251
689BRCA1NM_ 007294.3(BRCA1): c.3329delA (p.Lys1110Serfs)deletionPathogenicrs397509056GRCh37Chr 17, 41244219: 41244219
690BRCA1NM_ 007294.3(BRCA1): c.3331C> T (p.Gln1111Ter)SNVPathogenicrs80357089GRCh37Chr 17, 41244217: 41244217
691BRCA1NM_ 007294.3(BRCA1): c.3436_ 3439delTGTT (p.Cys1146Leufs)deletionPathogenicrs397509067GRCh37Chr 17, 41244109: 41244112
692BRCA1NM_ 007294.3(BRCA1): c.3477_ 3480delAAAG (p.Ile1159Metfs)deletionPathogenicrs80357781GRCh37Chr 17, 41244068: 41244071
693BRCA1NM_ 007294.3(BRCA1): c.3598C> T (p.Gln1200Ter)SNVPathogenicrs62625307GRCh37Chr 17, 41243950: 41243950
694BRCA1NM_ 007294.3(BRCA1): c.3661G> T (p.Glu1221Ter)SNVPathogenicrs80357310GRCh37Chr 17, 41243887: 41243887
695BRCA1NM_ 007294.3(BRCA1): c.3668_ 3671dupTTCC (p.Cys1225Serfs)duplicationPathogenicrs80357797GRCh37Chr 17, 41243877: 41243880
696BRCA1NM_ 007294.3(BRCA1): c.3718C> T (p.Gln1240Ter)SNVPathogenicrs80356903GRCh37Chr 17, 41243830: 41243830
697BRCA1NM_ 007294.3(BRCA1): c.3759dupT (p.Lys1254Terfs)duplicationPathogenicrs80357687GRCh37Chr 17, 41243789: 41243789
698BRCA1NM_ 007294.3(BRCA1): c.3817C> T (p.Gln1273Ter)SNVPathogenicrs80357208GRCh37Chr 17, 41243731: 41243731
699BRCA1NM_ 007294.3(BRCA1): c.3841C> T (p.Gln1281Ter)SNVPathogenicrs80356866GRCh37Chr 17, 41243707: 41243707
700BRCA1NM_ 007294.3(BRCA1): c.3869_ 3870delAA (p.Lys1290Metfs)deletionPathogenicrs80357918GRCh37Chr 17, 41243678: 41243679
701BRCA1NM_ 007294.3(BRCA1): c.390C> A (p.Tyr130Ter)SNVPathogenicrs80356888GRCh37Chr 17, 41256190: 41256190
702BRCA1NM_ 007294.3(BRCA1): c.3916_ 3917delTT (p.Leu1306Aspfs)deletionPathogenicrs80357678GRCh37Chr 17, 41243631: 41243632
703BRCA1NM_ 007294.3(BRCA1): c.3967C> T (p.Gln1323Ter)SNVPathogenicrs80357262GRCh37Chr 17, 41243581: 41243581
704BRCA1NM_ 007294.3(BRCA1): c.3G> T (p.Met1Ile)SNVPathogenicrs80357475GRCh37Chr 17, 41276111: 41276111
705BRCA1NM_ 007294.3(BRCA1): c.4041_ 4042delAG (p.Gly1348Asnfs)deletionPathogenicrs80357727GRCh37Chr 17, 41243506: 41243507
706BRCA1NM_ 007294.3(BRCA1): c.406dupA (p.Arg136Lysfs)duplicationPathogenicrs80357709GRCh37Chr 17, 41256174: 41256174
707BRCA1NM_ 007294.3(BRCA1): c.4122_ 4123delTG (p.Ser1374Argfs)deletionPathogenicrs80357691GRCh37Chr 17, 41243023: 41243024
708BRCA1NM_ 007294.3(BRCA1): c.415C> T (p.Gln139Ter)SNVPathogenicrs80357372GRCh37Chr 17, 41256165: 41256165
709BRCA1NM_ 007294.3(BRCA1): c.4161_ 4162delTC (p.Gln1388Glufs)deletionPathogenicrs80357565GRCh37Chr 17, 41242984: 41242985
710BRCA1NM_ 007294.3(BRCA1): c.4165_ 4166delAG (p.Ser1389Terfs)deletionPathogenicrs80357572GRCh37Chr 17, 41242980: 41242981
711BRCA1NM_ 007294.3(BRCA1): c.4222C> T (p.Gln1408Ter)SNVPathogenicrs80356989GRCh37Chr 17, 41234556: 41234556
712BRCA1NM_ 007294.3(BRCA1): c.4335_ 4338dupAGAA (p.Gln1447Argfs)duplicationPathogenicrs397509164GRCh37Chr 17, 41234440: 41234443
713BRCA1NM_ 007294.3(BRCA1): c.4389C> A (p.Tyr1463Ter)SNVPathogenicrs80356997GRCh37Chr 17, 41228600: 41228600
714BRCA1NM_ 007294.3(BRCA1): c.4524G> A (p.Trp1508Ter)SNVPathogenicrs80356885GRCh37Chr 17, 41226499: 41226499
715BRCA1NM_ 007294.3(BRCA1): c.4574_ 4575delAA (p.Gln1525Argfs)deletionPathogenicrs80357813GRCh37Chr 17, 41226448: 41226449
716BRCA1NM_ 007294.3(BRCA1): c.4611_ 4612insG (p.Gln1538Alafs)insertionPathogenicrs80357915GRCh37Chr 17, 41226411: 41226412
717BRCA1NM_ 007294.3(BRCA1): c.4612C> T (p.Gln1538Ter)SNVPathogenicrs80356992GRCh37Chr 17, 41226411: 41226411
718BRCA1NM_ 007294.3(BRCA1): c.4656C> G (p.Tyr1552Ter)SNVPathogenicrs80357151GRCh37Chr 17, 41226367: 41226367
719BRCA1NM_ 007294.3(BRCA1): c.4675+1G> ASNVPathogenicrs80358044GRCh37Chr 17, 41226347: 41226347
720BRCA1NM_ 007294.3(BRCA1): c.4936delG (p.Val1646Serfs)deletionPathogenicrs80357653GRCh37Chr 17, 41222995: 41222995
721BRCA1NM_ 007294.3(BRCA1): c.4941delC (p.Asn1647Lysfs)deletionPathogenicrs80357905GRCh37Chr 17, 41222990: 41222990
722BRCA1NM_ 007294.3(BRCA1): c.5053A> G (p.Thr1685Ala)SNVPathogenicrs80356890GRCh37Chr 17, 41219646: 41219646
723BRCA1NM_ 007294.3(BRCA1): c.505C> T (p.Gln169Ter)SNVPathogenicrs80357133GRCh37Chr 17, 41251834: 41251834
724BRCA1NM_ 007294.3(BRCA1): c.5080G> T (p.Glu1694Ter)SNVPathogenicrs80356896GRCh37Chr 17, 41215963: 41215963
725BRCA1NM_ 007294.3(BRCA1): c.5095C> T (p.Arg1699Trp)SNVPathogenicrs55770810GRCh37Chr 17, 41215948: 41215948
726BRCA1NM_ 007294.3(BRCA1): c.5102_ 5103delTG (p.Leu1701Glnfs)deletionPathogenicrs80357608GRCh37Chr 17, 41215940: 41215941
727BRCA1NM_ 007294.3(BRCA1): c.5106delA (p.Lys1702Asnfs)deletionPathogenicrs80357553GRCh37Chr 17, 41215937: 41215937
728BRCA1NM_ 007294.3(BRCA1): c.5109T> G (p.Tyr1703Ter)SNVPathogenicrs80356974GRCh37Chr 17, 41215934: 41215934
729BRCA1NM_ 007294.3(BRCA1): c.5123C> A (p.Ala1708Glu)SNVPathogenicrs28897696GRCh37Chr 17, 41215920: 41215920
730BRCA1NM_ 007294.3(BRCA1): c.5136G> A (p.Trp1712Ter)SNVPathogenicrs80357418GRCh37Chr 17, 41215907: 41215907
731BRCA1NM_ 007294.3(BRCA1): c.5137delG (p.Val1713Terfs)deletionPathogenicrs80357997GRCh37Chr 17, 41215906: 41215906
732BRCA1NM_ 007294.3(BRCA1): c.514delC (p.Gln172Asnfs)deletionPathogenicrs80357872GRCh37Chr 17, 41251825: 41251825
733BRCA1NM_ 007294.3(BRCA1): c.5152+1G> TSNVPathogenicrs80358094GRCh37Chr 17, 41215890: 41215890
734BRCA1NM_ 007294.3(BRCA1): c.5152+2dupTduplicationPathogenic/ Likely pathogenicrs397509231GRCh37Chr 17, 41215889: 41215889
735BRCA1NM_ 007294.3(BRCA1): c.5153-2delAdeletionPathogenic/ Likely pathogenicrs273901746GRCh37Chr 17, 41215392: 41215392
736BRCA1NM_ 007294.3(BRCA1): c.5194-12G> ASNVPathogenicrs80358079GRCh37Chr 17, 41209164: 41209164
737BRCA1NM_ 007294.3(BRCA1): c.5212G> A (p.Gly1738Arg)SNVPathogenicrs80356937GRCh37Chr 17, 41209134: 41209134
738BRCA1NM_ 007294.3(BRCA1): c.5251C> T (p.Arg1751Ter)SNVPathogenicrs80357123GRCh37Chr 17, 41209095: 41209095
739BRCA1NM_ 007294.3(BRCA1): c.5260G> T (p.Glu1754Ter)SNVPathogenicrs80357432GRCh37Chr 17, 41209086: 41209086
740BRCA1NM_ 007294.3(BRCA1): c.5278-1G> ASNVPathogenic/ Likely pathogenicrs80358099GRCh37Chr 17, 41203135: 41203135
741BRCA1NM_ 007294.3(BRCA1): c.5319dupC (p.Asn1774Glnfs)duplicationPathogenicrs80357823GRCh37Chr 17, 41203093: 41203093
742BRCA1NM_ 007294.3(BRCA1): c.5332+1G> ASNVPathogenicrs80358041GRCh37Chr 17, 41203079: 41203079
743BRCA1NM_ 007294.3(BRCA1): c.5353C> T (p.Gln1785Ter)SNVPathogenicrs80356969GRCh37Chr 17, 41201191: 41201191
744BRCA1NM_ 007294.3(BRCA1): c.5444G> A (p.Trp1815Ter)SNVPathogenicrs80356962GRCh37Chr 17, 41199683: 41199683
745BRCA1NM_ 007294.3(BRCA1): c.5470_ 5477delATTGGGCA (p.Ile1824Aspfs)deletionPathogenicrs80357973GRCh37Chr 17, 41197810: 41197817
746BRCA1NM_ 007294.3(BRCA1): c.5503C> T (p.Arg1835Ter)SNVPathogenicrs41293465GRCh37Chr 17, 41197784: 41197784
747BRCA1NM_ 007294.3(BRCA1): c.5521delA (p.Ser1841Valfs)deletionPathogenicrs80357721GRCh37Chr 17, 41197766: 41197766
748BRCA1NM_ 007294.3(BRCA1): c.5558dupA (p.Tyr1853Terfs)duplicationPathogenicrs80357629GRCh37Chr 17, 41197729: 41197729
749BRCA1NM_ 007294.3(BRCA1): c.65T> C (p.Leu22Ser)SNVPathogenicrs80357438GRCh37Chr 17, 41276049: 41276049
750BRCA1NM_ 007294.3(BRCA1): c.668delA (p.Lys223Argfs)deletionPathogenicrs80357745GRCh37Chr 17, 41247865: 41247865
751BRCA1NM_ 007294.3(BRCA1): c.685delT (p.Ser229Leufs)deletionPathogenicrs80357824GRCh37Chr 17, 41246863: 41246863
752BRCA1NM_ 007294.3(BRCA1): c.70_ 80delTGTCCCATCTG (p.Cys24Serfs)deletionPathogenicrs80357696GRCh37Chr 17, 41276034: 41276044
753BRCA1NM_ 007294.3(BRCA1): c.815_ 824dupAGCCATGTGG (p.Thr276Alafs)duplicationPathogenicrs387906563GRCh37Chr 17, 41246724: 41246733
754BRCA1NM_ 007294.3(BRCA1): c.89T> A (p.Leu30Ter)SNVPathogenicrs397509331GRCh37Chr 17, 41267788: 41267788
755BRCA1NM_ 007294.3(BRCA1): c.928C> T (p.Gln310Ter)SNVPathogenicrs397509338GRCh37Chr 17, 41246620: 41246620
756BRCA1NM_ 007294.3(BRCA1): c.981_ 982delAT (p.Cys328Terfs)deletionPathogenicrs80357772GRCh37Chr 17, 41246566: 41246567
757BRCA2NM_ 000059.3(BRCA2): c.3075_ 3076delGAinsTT (p.Lys1025_ Lys1026delinsAsnTer)indelPathogenicrs587779362GRCh37Chr 13, 32911567: 32911568
758BRCA1NM_ 007294.3(BRCA1): c.135-?_ 441+?deldeletionPathogenicGRCh37Chr 17, 41256139: 41258550
759BRCA1NM_ 007294.3(BRCA1): c.4186-?_ 4675+?deldeletionPathogenicGRCh37Chr 17, 41226348: 41234592
760BRCA1NM_ 007294.3(BRCA1): c.4358-?_ 5277+?deldeletionPathogenicGRCh37Chr 17, 41209069: 41228631
761BRCA1NM_ 007294.3(BRCA1): c.4485-?_ 4986+?deldeletionPathogenicGRCh37Chr 17, 41222945: 41226538
762BRCA1NM_ 007294.3(BRCA1): c.4987-?_ 5074+?deldeletionPathogenicGRCh37Chr 17, 41219625: 41219712
763BRCA2NM_ 000059.3(BRCA2): c.5692delG (p.Asp1898Metfs)deletionPathogenicrs398122539GRCh37Chr 13, 32914184: 32914184
764BRCA2NM_ 000059.3(BRCA2): c.9252_ 9255delAACAinsTT (p.Lys3084Asnfs)indelPathogenicrs276174918GRCh37Chr 13, 32954278: 32954281
765BRCA2NM_ 000059.3(BRCA2): c.9808delG (p.Ala3270Profs)deletionPathogenicrs398122622GRCh37Chr 13, 32972458: 32972458
766BRCA1NM_ 007294.3(BRCA1): c.1086_ 1141del56 (p.Asn363Serfs)deletionPathogenicrs80359875GRCh37Chr 17, 41246407: 41246462
767BRCA1NM_ 007294.3(BRCA1): c.134+2T> CSNVPathogenic/ Likely pathogenicrs80358131GRCh37Chr 17, 41267741: 41267741
768BRCA1NM_ 007294.3(BRCA1): c.2131_ 2132delAA (p.Lys711Valfs)deletionPathogenicrs398122653GRCh37Chr 17, 41245416: 41245417
769BRCA1NM_ 007294.3(BRCA1): c.2902_ 2903insTC (p.Pro968Leufs)duplicationPathogenicrs398122670GRCh37Chr 17, 41244646: 41244647
770BRCA1NM_ 007294.3(BRCA1): c.2940delA (p.Pro981Hisfs)deletionPathogenicrs80357876GRCh37Chr 17, 41244608: 41244608
771BRCA1NM_ 007294.3(BRCA1): c.3672delC (p.Cys1225Alafs)deletionPathogenicrs398122677GRCh37Chr 17, 41243876: 41243876
772BRCA1NM_ 007294.3(BRCA1): c.3761_ 3762insTT (p.Lys1254Asnfs)insertionPathogenicrs80357928GRCh37Chr 17, 41243786: 41243787
773BRCA1NM_ 007294.3(BRCA1): c.4493delC (p.Pro1498Leufs)deletionPathogenicrs398122687GRCh37Chr 17, 41226530: 41226530
774BRCA1NM_ 007294.3(BRCA1): c.5277+1delGdeletionPathogenic/ Likely pathogenicrs273901754GRCh37Chr 17, 41209068: 41209068
775BRCA1NM_ 007294.3(BRCA1): c.81-1G> ASNVPathogenic/ Likely pathogenicrs80358018GRCh37Chr 17, 41267797: 41267797
776BRCA2NM_ 000059.3(BRCA2): c.8839G> T (p.Glu2947Ter)SNVPathogenicrs398122715GRCh37Chr 13, 32953538: 32953538
777BRCA2NM_ 000059.3(BRCA2): c.2330dupA (p.Asp777Glufs)duplicationPathogenicrs80359328GRCh37Chr 13, 32910822: 32910822
778BRCA2NM_ 000059.3(BRCA2): c.2808delA (p.Lys936Asnfs)deletionPathogenicrs398122753GRCh37Chr 13, 32911300: 32911300
779BRCA2NM_ 000059.3(BRCA2): c.4211delC (p.Ser1404Terfs)deletionPathogenicrs398122777GRCh37Chr 13, 32912703: 32912703
780BRCA2NM_ 000059.3(BRCA2): c.4552delG (p.Glu1518Asnfs)deletionPathogenicrs398122783GRCh37Chr 13, 32913044: 32913044
781BRCA2NM_ 000059.3(BRCA2): c.6275_ 6276delTT (p.Leu2092Profs)deletionPathogenicrs11571658GRCh37Chr 13, 32914767: 32914768
782BRCA2NM_ 000059.3(BRCA2): c.6591_ 6592delTG (p.Glu2198Asnfs)deletionPathogenicrs80359605GRCh37Chr 13, 32915083: 32915084
783BRCA2NM_ 000059.3(BRCA2): c.5722_ 5723delCT (p.Leu1908Argfs)deletionPathogenicrs80359530GRCh37Chr 13, 32914214: 32914215
784BRCA2NM_ 000059.3(BRCA2): c.2808_ 2811del4 (p.Ala938Profs)deletionPathogenicrs80359351GRCh37Chr 13, 32911300: 32911303
785BRCA2NM_ 000059.3(BRCA2): c.5946delT (p.Ser1982Argfs)deletionPathogenicrs80359550GRCh37Chr 13, 32914438: 32914438
786BRCA2NM_ 000059.3(BRCA2): c.771_ 775delTCAAA (p.Asn257Lysfs)deletionPathogenicrs80359671GRCh37Chr 13, 32905145: 32905149
787BRCA2NM_ 000059.3(BRCA2): c.8537_ 8538delAG (p.Glu2846Glyfs)deletionPathogenicrs80359714GRCh37Chr 13, 32945142: 32945143
788BRCA2NM_ 000059.3(BRCA2): c.658_ 659delGT (p.Val220Ilefs)deletionPathogenicrs80359604GRCh37Chr 13, 32903606: 32903607
789BRCA2NM_ 000059.3(BRCA2): c.4648G> T (p.Glu1550Ter)SNVPathogenicrs80358695GRCh37Chr 13, 32913140: 32913140
790BRCA2NM_ 000059.3(BRCA2): c.9196C> T (p.Gln3066Ter)SNVPathogenicrs80359180GRCh37Chr 13, 32954222: 32954222
791BRCA2NM_ 000059.3(BRCA2): c.631+1G> ASNVPathogenicrs81002897GRCh37Chr 13, 32900751: 32900751
792BRCA2NM_ 000059.3(BRCA2): c.631+2T> GSNVPathogenicrs81002899GRCh37Chr 13, 32900752: 32900752
793BRCA2NM_ 000059.3(BRCA2): c.3779delT (p.Leu1260Tyrfs)deletionPathogenicrs431825312GRCh37Chr 13, 32912271: 32912271
794BRCA2NM_ 000059.3(BRCA2): c.4976_ 4977insG (p.Tyr1661Leufs)insertionPathogenicrs431825325GRCh37Chr 13, 32913468: 32913469
795BRCA2NM_ 000059.3(BRCA2): c.6397dupT (p.Ser2133Phefs)duplicationPathogenicrs431825342GRCh37Chr 13, 32914889: 32914889
796BRCA2NM_ 000059.3(BRCA2): c.715delA (p.Ser239Valfs)deletionPathogenicrs431825350GRCh37Chr 13, 32905089: 32905089
797BRCA2NM_ 000059.3(BRCA2): c.8463delT (p.Ile2822Phefs)deletionPathogenicrs431825365GRCh37Chr 13, 32944670: 32944670
798BRCA2NM_ 000059.3(BRCA2): c.8837T> A (p.Leu2946Ter)SNVPathogenicrs431825371GRCh37Chr 13, 32953536: 32953536
799BRCA2NM_ 000059.3(BRCA2): c.9945delA (p.Glu3316Asnfs)deletionPathogenicrs431825381GRCh37Chr 13, 32972595: 32972595

Expression for genes affiliated with Hereditary Breast Ovarian Cancer

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Search GEO for disease gene expression data for Hereditary Breast Ovarian Cancer.

Pathways for genes affiliated with Hereditary Breast Ovarian Cancer

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Pathways related to Hereditary Breast Ovarian Cancer according to GeneCards Suite gene sharing:

(show all 32)
idSuper pathwaysScoreTop Affiliating Genes
110.0CHEK2, TP53
2
Show member pathways
9.6MRE11, NBN, RAD50
39.6MRE11, NBN, RAD50
4
Show member pathways
9.6MRE11, NBN, RAD50
59.6BRCA1, MLH1, TP53
6
Show member pathways
9.5BRCA1, CHEK2, PTEN, TP53
79.5BRCA1, CHEK2, PTEN, TP53
89.4BRCA1, MRE11, NBN, RAD50
9
Show member pathways
9.4MRE11, NBN, RAD50, TP53
109.3BARD1, BRCA1, CHEK2, NBN, TP53
119.0BRCA2, MLH1, PTEN, RAD51, TP53
128.7BARD1, BRCA1, MRE11, NBN, RAD50, RAD51
13
Show member pathways
8.7BARD1, BRCA1, CHEK2, MRE11, NBN, RAD50
14
Show member pathways
8.7BRCA1, CHEK2, MRE11, NBN, RAD50, RAD51
158.6BARD1, BRCA1, CHEK2, MRE11, PTEN, RAD50
16
Show member pathways
8.6BRCA1, BRCA2, BRIP1, MLH1, PALB2, RAD51
178.5CHEK2, MRE11, NBN, RAD50, STK11
18
Show member pathways
8.4BRCA1, CHEK2, MRE11, NBN, PTEN, RAD50
19
Show member pathways
8.4BARD1, BRCA1, BRIP1, CHEK2, MRE11, NBN
20
Show member pathways
8.4CHEK2, MLH1, PTEN, STK11, TP53
21
Show member pathways
8.3BRCA1, BRCA2, MLH1, MRE11, NBN, RAD50
22
Show member pathways
8.2BARD1, BRCA1, BRCA2, CHEK2, MRE11, NBN
23
Show member pathways
8.2BARD1, BRCA1, BRCA2, CHEK2, MRE11, NBN
247.6BRCA1, BRCA2, BRIP1, CHEK2, MLH1, MRE11
25
Show member pathways
7.4BARD1, BRCA1, BRCA2, BRIP1, CHEK2, MLH1
26
Show member pathways
7.4BARD1, BRCA1, BRCA2, BRIP1, MRE11, NBN
27
Show member pathways
7.4BARD1, BRCA1, BRCA2, BRIP1, MRE11, NBN
287.4BARD1, BRCA1, BRCA2, CHEK2, MRE11, PTEN
29
Show member pathways
7.2BARD1, BRCA1, BRCA2, BRIP1, CHEK2, MLH1
30
Show member pathways
6.5BARD1, BRCA1, BRIP1, CHEK2, MLH1, MRE11
31
Show member pathways
6.5BARD1, BRCA1, BRIP1, CHEK2, MLH1, MRE11
32
Show member pathways
6.4BARD1, BRCA1, BRCA2, BRIP1, CHEK2, MLH1

GO Terms for genes affiliated with Hereditary Breast Ovarian Cancer

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Cellular components related to Hereditary Breast Ovarian Cancer according to GeneCards Suite gene sharing:

(show all 16)
idNameGO IDScoreTop Affiliating Genes
1BRCA1-A complexGO:007053110.9BARD1, BRCA1
2BRCA1-BARD1 complexGO:003143610.9BARD1, BRCA1
3lateral elementGO:000080010.7BRCA1, BRCA2, RAD51
4Mre11 complexGO:003087010.4MRE11, NBN, RAD50
5condensed chromosomeGO:000079310.3BRCA1, MLH1, RAD51
6MutLalpha complexGO:003238910.3MLH1, PMS1
7Rad51B-Rad51C-Rad51D-XRCC2 complexGO:003306310.1RAD51C, RAD51D, XRCC2
8condensed nuclear chromosomeGO:000079410.0BRCA1, MLH1, RAD50, RAD51
9chromosome, telomeric regionGO:00007819.9CHEK2, MRE11, NBN, RAD50, RAD51D
10nuclear chromosome, telomeric regionGO:00007849.8BRCA2, MRE11, NBN, RAD50, RAD51, RAD51D
11replication forkGO:00056579.6NBN, RAD51C, RAD51D, TP53, XRCC2
12chromosomeGO:00056949.5BRCA1, MLH1, MRE11, NBN, RAD50, RAD51D
13site of double-strand breakGO:00358619.3MRE11, NBN, RAD50, RAD51
14PML bodyGO:00166059.3CHEK2, MRE11, NBN, PTEN, RAD51, TP53
15nucleoplasmGO:00056546.1BARD1, BRCA1, BRCA2, BRIP1, CHEK2, MLH1
16nucleusGO:00056345.4BARD1, BRCA1, BRCA2, BRIP1, CHEK2, MLH1

Biological processes related to Hereditary Breast Ovarian Cancer according to GeneCards Suite gene sharing:

(show top 50)    (show all 53)
idNameGO IDScoreTop Affiliating Genes
1chordate embryonic developmentGO:004300910.9BRCA1, BRCA2
2inner cell mass cell proliferationGO:000183310.8BRCA2, PALB2
3DNA damage response, signal transduction by p53 class mediatorGO:003033010.8NBN, TP53
4mitotic recombination-dependent replication fork processingGO:199042610.8BRCA2, RAD51
5protein K6-linked ubiquitinationGO:008502010.8BARD1, BRCA1
6chromosome organization involved in meiotic cell cycleGO:007019210.7RAD50, RAD51
7replicative senescenceGO:009039910.7CHEK2, TP53
8negative regulation of telomere cappingGO:190435410.6NBN, RAD50
9mitotic G2 DNA damage checkpointGO:000709510.6MRE11, NBN
10nucleotide-excision repairGO:000628910.6BRCA2, RAD51D, TP53
11intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediatorGO:004277110.5BRCA2, CHEK2, TP53
12regulation of mitotic recombinationGO:000001910.5MRE11, RAD50
13chromosome organizationGO:005127610.5BRCA2, MRE11, RAD51D
14cellular response to gamma radiationGO:007148010.5CHEK2, RAD51, TP53
15isotype switchingGO:004519010.5MLH1, NBN
16cellular response to hypoxiaGO:007145610.4BRIP1, PTEN, TP53
17DNA damage checkpointGO:000007710.4BRIP1, CHEK2, NBN
18meiotic DNA recombinase assemblyGO:000070710.4RAD51C, RAD51D, XRCC2
19DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediatorGO:000697810.4BRCA1, BRCA2, CHEK2, TP53
20positive regulation of kinase activityGO:003367410.3MRE11, NBN, RAD50
21positive regulation of protein autophosphorylationGO:003195410.3MRE11, NBN, RAD50
22positive regulation of telomere maintenanceGO:003220610.3MRE11, NBN, RAD50
23protein deubiquitinationGO:001657910.3BARD1, BRCA1, PTEN, TP53
24mitotic recombinationGO:000631210.1RAD51, RAD51C, RAD51D, XRCC2
25telomere maintenanceGO:000072310.1NBN, RAD50, RAD51D
26response to X-rayGO:001016510.1BRCA2, RAD51, TP53, XRCC2
27response to gamma radiationGO:001033210.1BRCA2, CHEK2, TP53, XRCC2
28intrinsic apoptotic signaling pathway in response to DNA damageGO:000863010.1BRCA1, BRCA2, CHEK2, MLH1
29DNA duplex unwindingGO:003250810.0BRIP1, MRE11, NBN, RAD50
30meiotic nuclear divisionGO:000712610.0MLH1, RAD51, XRCC2
31strand invasionGO:00421489.9RAD51, RAD51C, RAD51D, XRCC2
32DNA double-strand break processingGO:00007299.9BARD1, BRCA1, MRE11, NBN, RAD50
33negative regulation of apoptotic processGO:00430669.9BARD1, MRE11, PALB2, PTEN, TP53
34synapsisGO:00071299.8BRIP1, MLH1, MRE11
35cell cycle arrestGO:00070509.7BARD1, NBN, STK11, TP53
36meiotic cell cycleGO:00513219.7MRE11, NBN, RAD50, RAD51, XRCC2
37telomere maintenance via recombinationGO:00007229.6BRCA2, RAD50, RAD51, RAD51C
38DNA replicationGO:00062609.6BARD1, BRCA1, BRIP1, MRE11, NBN, RAD50
39cell proliferationGO:00082839.6BRCA2, IGFBP4, MRE11, NBN, PTEN, TP53
40telomeric 3 overhang formationGO:00318609.6MRE11, NBN, RAD50
41double-strand break repair via nonhomologous end joiningGO:00063039.4BARD1, BRCA1, MLH1, MRE11, NBN, RAD50
42double-strand break repairGO:00063029.4BRCA1, BRCA2, BRIP1, CHEK2, MRE11, NBN
43response to ionizing radiationGO:00102129.3BRCA1, RAD51C, RAD51D, STK11, XRCC2
44spermatogenesisGO:00072839.0BRCA2, BRIP1, MLH1, RAD51C, STK11
45DNA recombinationGO:00063109.0BRCA1, BRCA2, MRE11, PALB2, RAD50, RAD51
46reciprocal meiotic recombinationGO:00071318.9MLH1, MRE11, RAD50, RAD51, RAD51C, RAD51D
47double-strand break repair via homologous recombinationGO:00007248.7BRCA1, BRCA2, MRE11, NBN, PALB2, RAD50
48cell cycleGO:00070498.5BRCA1, BRCA2, CHEK2, MLH1, NBN, RAD50
49regulation of signal transduction by p53 class mediatorGO:19017968.2BARD1, BRCA1, BRIP1, CHEK2, MRE11, NBN
50DNA synthesis involved in DNA repairGO:00007318.1BARD1, BRCA1, BRCA2, BRIP1, MRE11, NBN

Molecular functions related to Hereditary Breast Ovarian Cancer according to GeneCards Suite gene sharing:

(show all 14)
idNameGO IDScoreTop Affiliating Genes
1damaged DNA bindingGO:000368410.7BRCA1, NBN, TP53
2mismatched DNA bindingGO:003098310.3MLH1, PMS1
3DNA-dependent ATPase activityGO:000809410.2RAD51, RAD51C, RAD51D, XRCC2
4four-way junction DNA bindingGO:000040010.2RAD51, RAD51C, RAD51D, XRCC2
5ATP-dependent DNA helicase activityGO:000400310.1BRIP1, MRE11, NBN, RAD50
6endodeoxyribonuclease activityGO:000452010.1MRE11, RAD51, RAD51D, XRCC2
7recombinase activityGO:00001509.9RAD51, RAD51C, RAD51D, XRCC2
8double-stranded DNA bindingGO:00036909.9MRE11, RAD51, RAD51C, RAD51D, XRCC2
9single-stranded DNA endodeoxyribonuclease activityGO:00000149.8MRE11, RAD50
10nucleotide bindingGO:00001669.8BRIP1, CHEK2, RAD50, RAD51, RAD51C, RAD51D
11single-stranded DNA bindingGO:00036978.4BRCA2, MLH1, PMS1, RAD51, RAD51C, RAD51D
12DNA bindingGO:00036778.0BRCA1, BRCA2, BRIP1, MRE11, PALB2, PMS1
13ATP bindingGO:00055247.3BRIP1, CHEK2, MLH1, PMS1, RAD50, RAD51
14protein bindingGO:00055155.8BARD1, BRCA1, BRCA2, BRIP1, CHEK2, MLH1

Sources for Hereditary Breast Ovarian Cancer

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
27GTR
28HGMD
29HMDB
30ICD10
31ICD10 via Orphanet
32ICD9CM
33IUPHAR
34KEGG
37MedGen
39MeSH
40MESH via Orphanet
41MGI
44NCI
45NCIt
46NDF-RT
49NINDS
50Novoseek
52OMIM
53OMIM via Orphanet
57PubMed
58QIAGEN
63SNOMED-CT via Orphanet
67Tumor Gene Family of Databases
68UMLS
69UMLS via Orphanet