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, 23GeneTests, 52Orphanet, 25GTR, 37MeSH, 43NCIt, 66UMLS, 29ICD10 via Orphanet, 67UMLS 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 52 25 37
 
Breast/ovarian Cancer, Hereditary 23

Characteristics:

Orphanet epidemiological data:

52
hereditary breast and ovarian cancer syndrome:
Inheritance: Autosomal dominant; Age of onset: All ages

Classifications:



External Ids:

Disease Ontology11 DOID:5683
MeSH37 D061325
NCIt43 C8493
Orphanet52 ORPHA145
ICD10 via Orphanet29 C50, C56
UMLS via Orphanet67 C0677776

Summaries for Hereditary Breast Ovarian Cancer

About this section
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 miRNA Regulation of DNA Damage Response. Affiliated tissues include breast, testes and ovary, and related mouse phenotypes are limbs/digits/tail and digestive/alimentary.

Wikipedia:69 Hereditary breast–ovarian cancer syndromes (HBOC) are cancer syndromes that produce higher than normal... more...

Related Diseases for Hereditary Breast Ovarian Cancer

About this section

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 70)
idRelated DiseaseScoreTop Affiliating Genes
1brca1 hereditary breast and ovarian cancer syndrome12.3
2brca2 hereditary breast and ovarian cancer syndrome12.3
3congenital pulmonary veins atresia or stenosis10.8BRCA1, BRCA2
4ovarian cancer10.8
5bronchopulmonary dysplasia10.7BRCA1, BRCA2
6cutaneous lupus erythematosus10.7BRCA1, BRCA2
7liddle syndrome, scnn1g-related10.7CHEK2, TP53
8autoimmune disease of blood10.7BRCA1, BRCA2
9selective ige deficiency disease10.7BRCA1, BRCA2
10pancreatic cancer10.6
11cervical serous adenocarcinoma10.6BRCA1, BRCA2, TP53
12ovarian cancer, somatic10.6BRCA1, BRCA2, PALB2
13ovarian brenner tumor10.6BRCA1, BRCA2, TP53
14rectum mucinous adenocarcinoma10.6BRCA1, BRCA2, TP53
15papillary adenofibroma10.6BRCA1, BRCA2, TP53
16lethal congenital contracture syndrome 710.6BRCA1, BRCA2, NBN
17leiomyosarcoma10.6BRCA1, BRCA2, TP53
18distal monosomy 9p10.6BRCA1, BRCA2, TP53
19myasthenia gravis, limb-girdle10.6BRCA1, BRCA2, TP53
20ductal carcinoma in situ10.6BRCA1, BRCA2, TP53
21dental caries10.6BRCA1, BRCA2, TP53
22amyloid tumor10.6BRCA1, BRCA2, PTEN
23milker's nodule10.6BRCA1, BRCA2, TP53
24ovarian wilms' cancer10.6BRCA1, BRCA2, TP53
25lung carcinoma in situ10.5BRCA1, BRCA2, TP53
26estrogen-receptor negative breast cancer10.5BRCA1, BRCA2, TP53
27fat necrosis of breast10.5BRCA1, BRCA2
28familial breast cancer10.4BRCA1, BRCA2, CHEK2, PALB2
29mucinous adenocarcinoma10.3BRCA2, STK11, TP53
30breast cancer, childhood10.2BRCA1, BRCA2, CHEK2, NBN, PALB2
31charcot-marie-tooth disease, type 4b110.1CHEK2, MRE11A, NBN, RAD50
32lingual goiter10.1BRCA2, PTEN, RAD51
33arthrogryposis, renal dysfunction, and cholestasis 110.1BRCA1, BRCA2, RAD51
34prostate cancer, hereditary, x-linked 110.1PTEN, STK11, TP53
35herpes simplex encephalitic 610.0BRCA2, PTEN, STK11, TP53
36dubin-johnson syndrome10.0PTEN, STK11, TP53
37prostate colloid adenocarcinoma10.0PMS1, STK11
38adult central nervous system choriocarcinoma10.0PMS1, STK11
39colorectal cancer9.9
40endometrial cancer9.9
41heart disease9.9
42papillary serous adenocarcinoma9.9
43adenocarcinoma9.9
44pancreatitis9.9
45nodular degeneration of cornea9.8MLH1, PTEN, TP53
46internal auditory canal lipoma9.8BRCA1, BRCA2, CHEK2, PALB2, PTEN, RAD51
47laryngeal benign neoplasm9.8MLH1, NBN, PTEN
48peroxisome biogenesis disorder 5a9.7BRCA1, CHEK2, MRE11A, NBN, RAD50, TP53
49bejel9.7BRCA1, BRCA2, BRIP1, PALB2, RAD51, RAD51C
50ampulla of vater squamous cell carcinoma9.7MLH1, TP53

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



Diseases related to hereditary breast ovarian cancer

Symptoms for Hereditary Breast Ovarian Cancer

About this section

Drugs & Therapeutics for Hereditary Breast Ovarian Cancer

About this section

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

(show all 23)
idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1
LetrozolePhase 3368112809-51-53902
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
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
2
DocetaxelApproved May 1996Phase 21880114977-28-5148124, 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
3
CarboplatinPhase 2, Phase 1194241575-94-410339178, 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+)
4
TamoxifenPhase 236810540-29-12733526
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
5
Citric AcidPhase 2106377-92-9311
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
6
tremelimumabPhase 1, Phase 283
Synonyms:
206
CP675
 
CP675206
Ticilimumab
tremelimumab
7
OlaparibPhase 1, Phase 2117763113-22-023725625
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
8
zoledronatePhase 2290118072-93-868740
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)
9CitrateNutraceuticalPhase 21063
10
VinblastinePhase 1398865-21-413342, 241903
Synonyms:
(2ALPHA,2'BETA,3BETA,4ALPHA,5BETA)-VINCALEUKOBLASTINE
(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
11
VinorelbinePhase 135871486-22-160780, 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
12
sirolimusPhase 1186353123-88-95284616, 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
13
EverolimusPhase 11863159351-69-66442177
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
14
PaclitaxelPhase 1269133069-62-436314
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
15
VeliparibPhase 192912444-00-911960529
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
16
MiconazolePhase 1357322916-47-84189
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
17
CisplatinPhase 1261415663-27-184093, 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)
18Lithium carbonate222554-13-2
19
Pancrelipase91753608-75-6
Synonyms:
1,4-alpha-D- glucan glucanohydrolase
PA
 
Pancreatic alpha-amylase precursor
Pancrelipase (amylase
lipase
protease)
20
Ethanol197164-17-5702
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
21pancreatin917
22
Menthol21842216-51-516666
Synonyms:
(−
()-Menthol
(+)-Neo-menthol
(+)-p-Menthan-3-ol
(+-)-(1R*,3R*,4S*)-Menthol
(+-)-Menthol
(+/-)-Menthol
(+/-)-p-Menthan-3-ol
(-)-(1R,3R,4S)-Menthol
(-)-Menthyl alcohol
(-)-menthol
(-)-p-Menthan-3-ol
(-)-trans-p-Menthan-cis-ol
(1R)-(-)-Menthol
(1R,2S,5R)-(-)-menthol
(1R,2S,5R)-Menthol
(1R,3R,4S)-(-)-MENTHOL
(1R,3R,4S)-(-)-Menthol
(1R-(1-alpha,2-beta,5-alpha))-5-Methyl-2-(1-methylethyl)cyclohexanol
(1S, 2S, 5R)-(+)-Neomenthol
(1S,2R,5R)-(+)-Isomenthol
(1S,2R,5S)-(+)-Menthol
(1S,2R,5S)-Menthol
(1alpha,2beta,5alpha)-5-Methyl-2(1-methylethyl)cyclohexanol
(1r,2s,5r)-(-)-menthol
(L)-MENTHOL
(R)-(-)-Menthol
(r)-(-)-menthol
)-Menthol
--MENTHOL
1-Menthol
1490-04-6
15356-60-2
15356-70-4
15785_RIEDEL
15785_SIAL
19863P
2-Isopropyl-5-methylcyclohexanol
20747-49-3
2216-51-5
3-p-Menthol
4-Isopropyl-1-methylcyclohexan-3-ol
491-02-1
5-Methyl-2-(1-methylethyl)-cyclohexanol
5-Methyl-2-(1-methylethyl)cyclohexanol
5-methyl-2-(propan-2-yl)cyclohexanol
5-methyl-2-propan-2-ylcyclohexan-1-ol
551376_ALDRICH
551376_FLUKA
588733_ALDRICH
613290_ALDRICH
613290_FLUKA
63660_FLUKA
63670_ALDRICH
63670_FLUKA
63975-60-0
6C6A4A8C-A054-468C-A1F0-F29E39838CF2
89-78-1
98167-53-4
AC1L1B2E
AC1L28FR
AC1Q1NQ2
AC1Q2QQM
AI3-08161
AI3-52408
AKOS000119740
AR-1J3337
BB_NC-0057
BRN 1902288
BRN 3194263
BSPBio_003062
C00400
C10H20O
CCRIS 3728
CCRIS 375
CCRIS 4666
CCRIS 9231
CHEBI:15409
CHEBI:545611
CHEMBL256087
CHEMBL470670
CID1254
CID16666
Caswell No. 540
D-(-)-Menthol
D-p-Menthan-3-ol
D00064
D008610
D04849
D04918
DB00825
DivK1c_000820
EINECS 201-939-0
EINECS 207-724-8
EINECS 216-074-4
EINECS 218-690-9
EINECS 239-387-8
EINECS 239-388-3
EPA Pesticide Chemical Code 051601
FEMA No. 2665
Fisherman's friend lozenges
Fisherman's friend lozenges (TN)
HMS1922G13
HMS2092L14
HMS502I22
 
HSDB 5662
HSDB 593
Headache crystals
Hexahydrothymol
I06-1216
I14-7371
IDI1_000820
KBio1_000820
KBio2_000785
KBio2_003353
KBio2_005921
KBio3_002562
KBioSS_000785
L-(-)-Menthol
L-(-)-menthol
L-Menthol
L-menthol
LMPR0102090001
LS-2353
LS-57201
LS-886
LS-89531
LS-89533
Levomenthol
Levomenthol [INN:BAN]
Levomentholum
Levomentholum [INN-Latin]
Levomentol
M0321
M0545
M2772_SIAL
MENTHOL
MLS002207256
Menthacamphor
Menthol
Menthol (USP)
Menthol (VAN)
Menthol natural
Menthol natural, brazilian
Menthol racemic
Menthol racemique
Menthol racemique [French]
Menthol solution
Menthol, (1alpha,2beta,5alpha)-Isomer
Menthomenthol
Menthyl alcohol
MolPort-000-849-729
MolPort-001-793-392
NCGC00159382-02
NCGC00159382-03
NCGC00164247-01
NCGC00164247-02
NCI-C50000
NINDS_000820
NOOLISFMXDJSKH-KXUCPTDWBX
NSC 2603
NSC 62788
NSC2603
NSC62788
Neoisomenthol
Peppermint camphor
RACEMIC MENTHOL U.S.P.
Racementhol
Racementhol [INN:BAN]
Racementholum
Racementholum [INN-Latin]
Racementol
Racementol [INN-Spanish]
Racemic menthol
Robitussin Cough Drops
SDCCGMLS-0066659.P001
SMR001306785
SPBio_000869
SPECTRUM1503134
STK802468
Spectrum2_000855
Spectrum3_001561
Spectrum5_001060
Spectrum_000305
Tra-kill tracheal mite killer
U.S.P. Menthol
U.S.p. Menthol
UNII-BZ1R15MTK7
UNII-L7T10EIP3A
UNII-YS08XHA860
W266507_ALDRICH
W266523_ALDRICH
W266590_ALDRICH
WLN: L6TJ AY1&1 BQ D1
WLN: L6TJ AY1&1 DQ D1 -L
ZINC01482164
cis-1 ,3-trans-1,4-(+-)-menthol
cis-1,3-trans-1,4-(+-)-menthol
d,l-Menthol
d-Menthol
d-Neomenthol
dl-3-p-Menthanol
dl-Menthol
dl-Menthol (JP15)
l-(-)-Menthol
l-Menthol
l-Menthol (JP15)
l-Menthol (TN)
l-Menthol (natural)
nchembio862-comp1
p-Menthan-3-ol
rac-Menthol
23COLANutraceutical1824

Interventional clinical trials:

(show top 50)    (show all 61)
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 ChildrenRecruitingNCT00685256Phase 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
6Search Allelic Imbalance of Expression of BRCA Genes in Hereditary Risk of Breast and/or Ovarian CancerCompletedNCT01333748Phase 2
7Trial of Inquiry Based Stress Reduction (IBSR) Program for BRCA1/2 Mutation CarriersCompletedNCT01367639Phase 2
8Arzoxifene or Tamoxifen in Preventing Breast Cancer in Premenopausal Women at High Risk for Breast CancerCompletedNCT00253539Phase 2
9Carboplatin or Docetaxel in Treating Women With Metastatic Genetic Breast CancerCompletedNCT00321633Phase 2
10The Women Choosing Surgical Prevention (WISP) TrialRecruitingNCT02760849Phase 2
11A 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
12PARP-inhibition and CTLA-4 Blockade in BRCA-deficient Ovarian CancerRecruitingNCT02571725Phase 1, Phase 2
13Ascertainment of Peripheral Blood or Saliva Samples for Genetic Epidemiology Studies of Familial CancersRecruitingNCT00579163Phase 1, Phase 2
14Zoledronate or Observation in Maintaining Bone Mineral Density in Patients Who Are Undergoing Surgery to Remove Both OvariesActive, not recruitingNCT00305695Phase 2
15Phase 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
16Family Gene ToolkitSuspendedNCT02154633Phase 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
21Telemedicine vs. Face-to-Face Cancer Genetic CounselingCompletedNCT00609505
22Attitudes About Childbearing And Fertility With Inherited Breast And Ovarian Cancer Syndromes (HBOC)CompletedNCT00829959
23Risk Education and Assessment for Cancer HeredityCompletedNCT01346761
24Establishment of Normal Breast Epithelial Cell Lines From Patients at High Risk for Breast CancerCompletedNCT00001496
25Microarray Analysis for Human Genetic DiseaseCompletedNCT00001898
26Lithium Carbonate in Treating Patients With Acute Intestinal Graft-Versus-Host-Disease After Donor Stem Cell TransplantCompletedNCT00408681
27Awareness and Attitudes Regarding Prenatal and Preimplantation Genetic Diagnosis for Inherited Breast/Ovarian Cancer RiskCompletedNCT00735150
28Removal of the Ovaries/Fallopian Tubes and CA-125 Screening to Reduce the Risk of Ovarian Cancer in Women at Increased Genetic RiskCompletedNCT00043472
29Outcomes of Education and Counseling for BRCA1 TestingCompletedNCT00001468
30A Qualitative Exploration of the Impact of Positive BRCA1/2 Mutation Status on the Lives of Young WomenCompletedNCT00858078
31Adaptation to Living With a BRCA1/2 MutationCompletedNCT01866865
32Physicians Survey on Genetic TestingCompletedNCT00341107
33Triple Negative Breast Cancer and Germline Hereditary Breast and Ovarian Cancer Mutation Carrier RegistryRecruitingNCT02302742
34Impact of a Psychoeducational Intervention on Expectations and Coping in Young Women Exposed to a High HBOC RiskRecruitingNCT02705924
35Efficacy of Lifestyle Intervention in BRCA1/2 Mutation CarriersRecruitingNCT02516540
36Cancer Genetics Hereditary Cancer Panel TestingRecruitingNCT02324062
37Familial Cancer Registry and DNA BankRecruitingNCT02083224
38Cluster Randomized Trial Comparing Interventions to Enhance Genetic Counseling Among Breast Cancer PatientsRecruitingNCT01789684
39Hypodontia and Ovarian CancerRecruitingNCT01470235
40Pancreatic Cancer GeneticsRecruitingNCT01102569
41Culturally-Informed Counseling in Latinas at High Risk for Hereditary Breast or Ovarian CancerRecruitingNCT01230346
42C-PATROL - Non-interventional Study (NIS) to Collect Clinical and Patient Reported Outcome Data in an Olaparib Treated BRCAm+ PSR Ovarian Cancer PopulationRecruitingNCT02503436
43Utility of Plasma Circulating Tumor DNA (ctDNA) in Asymptomatic Subjects for the Detection of Neoplastic DiseaseRecruitingNCT02612350
44Thymidine Kinase 1 in Risk Assessment for Hereditary Breast /Ovarian CancerRecruitingNCT00855998
45Specimen and Data Study for Ovarian Cancer Early Detection and PreventionRecruitingNCT00005095
46Korean Hereditary Breast Cancer StudyRecruitingNCT00595348
47Transcriptomes Breast, Ovarian and Leukocyte Hereditary Genes Predisposing to Breast and / or Ovarian CancerRecruitingNCT02560818
48Targeted Next-generation Sequencing Panel for Identification of Germline Mutations in Early Onset Cancers With Sporadic or Hereditary PresentationRecruitingNCT02664389
49Analysis of Tumors From Patients With Inherited Cancers Having Had Two Surgeries (Primary + Recurrent, or 2 Separate Types of Cancer)RecruitingNCT01167842
50Short Non-coding RNA Biomarkers of Predisposition to Ovarian CancerRecruitingNCT01187602

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 Syndrome25
2 Breast/ovarian Cancer, Hereditary23

Anatomical Context for Hereditary Breast Ovarian Cancer

About this section

MalaCards organs/tissues related to Hereditary Breast Ovarian Cancer:

34
Breast, Testes, Ovary, Bone, Prostate, Heart

Animal Models for Hereditary Breast Ovarian Cancer or affiliated genes

About this section

MGI Mouse Phenotypes related to Hereditary Breast Ovarian Cancer:

39 (show all 19)
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053718.3BRCA1, BRCA2, PALB2, PTEN, RAD50, RAD51D
2MP:00053818.2BRCA1, BRCA2, MLH1, PTEN, RAD50, STK11
3MP:00107717.7BRCA1, BRCA2, MLH1, PALB2, PTEN, RAD50
4MP:00053897.2BRCA1, BRCA2, BRIP1, MLH1, MRE11A, NBN
5MP:00053806.8BARD1, BRCA1, BRCA2, MRE11A, NBN, PALB2
6MP:00036316.8BARD1, BRCA1, BRCA2, BRIP1, MRE11A, NBN
7MP:00053796.8BRCA1, BRCA2, BRIP1, IGFBP4, MLH1, NBN
8MP:00053786.4BARD1, BRCA1, BRCA2, IGFBP4, NBN, PALB2
9MP:00053766.0BRCA1, BRCA2, BRIP1, CHEK2, IGFBP4, MLH1
10MP:00020065.6BARD1, BRCA1, BRCA2, BRIP1, CHEK2, MLH1
11MP:00053845.6BARD1, BRCA1, BRCA2, BRIP1, CHEK2, MLH1
12MP:00107685.6BARD1, BRCA1, BRCA2, CHEK2, MLH1, MRE11A

Publications for Hereditary Breast Ovarian Cancer

About this section

Articles related to Hereditary Breast Ovarian Cancer:

(show top 50)    (show all 75)
idTitleAuthorsYear
1
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
2
Patient and genetic counselor perceptions of in-person versus telephone genetic counseling for hereditary breast/ovarian cancer. (26969308)
2016
3
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
4
RAD51C mutation screening in high-risk patients from Serbian hereditary breast/ovarian cancer families. (26406419)
2015
5
BRCA Mutations Increase Fertility in Families at Hereditary Breast/Ovarian Cancer Risk. (26047126)
2015
6
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
7
Genetic counseling does not fulfill the counselees' need for certainty in hereditary breast/ovarian cancer families: an explorative assessment. (22777929)
2013
8
Hereditary breast/ovarian cancer syndrome: a primer for obstetricians/gynecologists. (24021253)
2013
9
Unpacking the blockers: understanding perceptions and social constraints of health communication in hereditary breast ovarian cancer (HBOC) susceptibility families. (21547418)
2011
10
Comprehensive genetic characterization of hereditary breast/ovarian cancer families from Slovakia. (21203900)
2011
11
Coronary heart disease risk profile in women who underwent salpingo-oophorectomy to prevent hereditary breast ovarian cancer. (20169665)
2010
12
Hereditary breast ovarian cancer syndromes in the Maritimes. (20181317)
2010
13
Founder BRCA1/2 mutations in the Europe: implications for hereditary breast-ovarian cancer prevention and control. (23199084)
2010
14
Hereditary breast-ovarian cancer syndrome in Russia. (22649661)
2010
15
Metabolic syndrome after risk-reducing salpingo-oophorectomy in women at high risk for hereditary breast ovarian cancer: a controlled observational study. (19008092)
2009
16
The prevalence of hereditary breast/ovarian cancer risk in patients with a history of breast or ovarian cancer in Japanese subjects. (20149041)
2009
17
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
18
Fatigue and quality of life after risk-reducing salpingo-oophorectomy in women at increased risk for hereditary breast-ovarian cancer. (19820364)
2009
19
Founder mutations account for the majority of BRCA1-attributable hereditary breast/ovarian cancer cases in a population from Tuscany, Central Italy. (18821011)
2009
20
Cross-sectional analysis of germline BRCA1 and BRCA2 mutations in Japanese patients suspected to have hereditary breast/ovarian cancer. (19016756)
2008
21
Hereditary breast/ovarian cancer: clinicopathological characteristics and survival of BRCA2 positive and negative cases. (19066131)
2008
22
Coordinated prophylactic surgical management for women with hereditary breast-ovarian cancer syndrome. (18410690)
2008
23
BRCA1 and BRCA2 risk perceptions among African American women at increased risk for hereditary breast-ovarian cancer. (18417966)
2008
24
Hereditary breast-ovarian cancer: clinical findings and medical management. (17901820)
2007
25
A novel BRCA1 mutation in an Indian family with hereditary breast/ovarian cancer. (17131039)
2007
26
Individualized preventive and therapeutic management of hereditary breast ovarian cancer syndrome. (17898808)
2007
27
Patient responses to the disclosure of BRCA mutation tests in hereditary breast-ovarian cancer families. (16527602)
2006
28
Germline mutations of BRCA1 in two Korean hereditary breast/ovarian cancer families. (16465413)
2006
29
Low rates of acceptance of BRCA1 and BRCA2 test results among African American women at increased risk for hereditary breast-ovarian cancer. (16980814)
2006
30
Acceptance of genetic testing for hereditary breast ovarian cancer among study enrollees from an African American kindred. (16523520)
2006
31
Hereditary Breast-Ovarian Cancer Team of the University Medical Centre Groningen (UMCG) - a Report. (20223045)
2005
32
Surveillance behavior and prophylactic surgery after predictive testing for hereditary breast/ovarian cancer. (16252621)
2005
33
The effect of experiential knowledge on construction of risk perception in hereditary breast/ovarian cancer. (15789156)
2005
34
Decision making and decision support for hereditary breast-ovarian cancer susceptibility. (16045423)
2005
35
Clinical, molecular and geographical features of hereditary breast/ovarian cancer in latvia. (20223033)
2005
36
Advocate's Viewpoint on Hereditary Breast/Ovarian Cancer. (20233464)
2004
37
Hereditary breast-ovarian cancer at the bedside: role of the medical oncologist. (12586815)
2003
38
Prophylactic surgery in hereditary breast/ovarian cancer syndrome. (12886864)
2003
39
Carrier risk status changes resulting from mutation testing in hereditary non-polyposis colorectal cancer and hereditary breast-ovarian cancer. (12920070)
2003
40
Genetic counseling in hereditary breast/ovarian cancer in Israel: psychosocial impact and retention of genetic information. (12210341)
2002
41
Hereditary breast/ovarian cancer--pitfalls in genetic counseling. (11683778)
2001
42
Men at risk of being a mutation carrier for hereditary breast/ovarian cancer: an exploration of attitudes and psychological functioning during genetic testing. (11464240)
2001
43
Histology of prophylactically removed ovaries from BRCA1 and BRCA2 mutation carriers compared with noncarriers in hereditary breast ovarian cancer syndrome kindreds. (10985881)
2000
44
French physicians' knowledge about hereditary breast/ovarian cancer: the need for continuing vocational training in genetics. (14960837)
1999
45
BRCA1 testing in families with hereditary breast-ovarian cancer. A prospective study of patient decision making and outcomes. (8648868)
1996
46
Insurance adjudication favoring prophylactic surgery in hereditary breast-ovarian cancer syndrome. (7705697)
1995
47
Splice-site mutation of the p53 gene in a family with hereditary breast-ovarian cancer. (8302608)
1994
48
The gene for hereditary breast-ovarian cancer, BRCA1, maps distal to EDH17B2 in chromosome region 17q12-q21. (7833928)
1994
49
The human insulin-like growth factor-binding protein 4 gene maps to chromosome region 17q12-q21.1 and is close to the gene for hereditary breast-ovarian cancer. (7507078)
1993
50
Genetic counselling and hereditary breast ovarian cancer. (1349410)
1992

Variations for Hereditary Breast Ovarian Cancer

About this section

Clinvar genetic disease variations for Hereditary Breast Ovarian Cancer:

5 (show all 463)
id Gene Variation Type Significance SNP ID Assembly Location
1BRCA1NM_007294.3(BRCA1): c.1812delA (p.Ala605Hisfs)deletionPathogenicrs80357927GRCh38Chr 17, 43093719: 43093719
2BRCA1NM_007294.3(BRCA1): c.4676-1G> Asingle nucleotide variantLikely pathogenic, Pathogenicrs80358008GRCh38Chr 17, 43071239: 43071239
3BRCA1NM_007294.3(BRCA1): c.456_457delCA (p.Ser153Cysfs)deletionPathogenicrs80357882GRCh38Chr 17, 43099865: 43099866
4BRCA2NM_000059.3(BRCA2): c.489_490insG (p.Leu164Valfs)insertionPathogenicrs120074205GRCh38Chr 13, 32326255: 32326256
5BRCA2NM_000059.3(BRCA2): c.7977-1G> Tsingle nucleotide variantPathogenicrs81002874GRCh37Chr 13, 32937315: 32937315
6BRCA2NM_000059.3(BRCA2): c.8745_8748dupTTAC (p.Glu2918Profs)duplicationPathogenicrs80359727GRCh37Chr 13, 32950919: 32950922
7BRCA2NM_000059.3(BRCA2): c.9672dupA (p.Tyr3225Ilefs)duplicationPathogenicrs80359773GRCh38Chr 13, 32398185: 32398185
8BRCA2NM_000059.3(BRCA2): c.(?_-1)_67+?deldeletionPathogenicGRCh38Chr 13, 32316460: 32316527
9BRCA2NM_000059.3(BRCA2): c.484delG (p.Ser163Valfs)deletionPathogenicrs587780653GRCh37Chr 13, 32900387: 32900387
10BRCA1NM_007294.3(BRCA1): c.2506delG (p.Glu836Lysfs)deletionPathogenicrs587780798GRCh37Chr 17, 41245042: 41245042
11BRCA1NM_007294.3(BRCA1): c.3874delT (p.Ser1292Leufs)deletionPathogenicrs587780802GRCh37Chr 17, 41243674: 41243674
12BRCA1NM_007294.3(BRCA1): c.81-2A> Csingle nucleotide variantPathogenicrs397509326GRCh37Chr 17, 41267798: 41267798
13BRCA1NM_007294.3(BRCA1): c.512dupT (p.Gln172Thrfs)duplicationPathogenicrs587781487GRCh37Chr 17, 41251827: 41251827
14BRCA2NM_000059.3(BRCA2): c.7877G> A (p.Trp2626Ter)single nucleotide variantPathogenicrs587781506GRCh37Chr 13, 32936731: 32936731
15BRCA2NM_000059.3(BRCA2): c.1909+1G> Asingle nucleotide variantLikely pathogenic, Pathogenicrs587781629GRCh37Chr 13, 32907525: 32907525
16BRCA1NM_007294.3(BRCA1): c.181T> G (p.Cys61Gly)single nucleotide variantPathogenicrs28897672GRCh37Chr 17, 41258504: 41258504
17BRCA1NM_007294.3(BRCA1): c.68_69delAG (p.Glu23Valfs)deletionPathogenicrs386833395GRCh37Chr 17, 41276047: 41276048
18BRCA1NM_007294.3(BRCA1): c.1175_1214del40 (p.Leu392Glnfs)deletionPathogenicrs80359874GRCh37Chr 17, 41246334: 41246373
19BRCA1NM_007294.3(BRCA1): c.2681_2682delAA (p.Lys894Thrfs)deletionPathogenicrs80357971GRCh37Chr 17, 41244866: 41244867
20BRCA1NM_007294.3(BRCA1): c.3005delA (p.Asn1002Thrfs)deletionPathogenicrs80357601GRCh38Chr 17, 43092526: 43092526
21BRCA1NM_007294.3(BRCA1): c.3607C> T (p.Arg1203Ter)single nucleotide variantPathogenicrs62625308GRCh37Chr 17, 41243941: 41243941
22BRCA1NM_007294.3(BRCA1): c.3748G> T (p.Glu1250Ter)single nucleotide variantPathogenicrs28897686GRCh37Chr 17, 41243800: 41243800
23BRCA1NM_007294.3(BRCA1): c.3756_3759delGTCT (p.Ser1253Argfs)deletionPathogenicrs80357868GRCh37Chr 17, 41243789: 41243792
24BRCA1NM_007294.3(BRCA1): c.4065_4068delTCAA (p.Asn1355Lysfs)deletionPathogenicrs80357508GRCh37Chr 17, 41243480: 41243483
25BRCA1NM_007294.3(BRCA1): c.4327C> T (p.Arg1443Ter)single nucleotide variantPathogenicrs41293455GRCh37Chr 17, 41234451: 41234451
26BRCA1NM_007294.3(BRCA1): c.5266dupC (p.Gln1756Profs)duplicationPathogenicrs80357906GRCh37Chr 17, 41209082: 41209082
27BRCA1NM_007294.3(BRCA1): c.3481_3491delGAAGATACTAG (p.Glu1161Phefs)deletionPathogenicrs80357877GRCh37Chr 17, 41244057: 41244067
28BRCA1NM_007294.3(BRCA1): c.211A> G (p.Arg71Gly)single nucleotide variantLikely pathogenic, Pathogenicrs80357382GRCh37Chr 17, 41258474: 41258474
29BRCA1NM_007294.3(BRCA1): c.5324T> G (p.Met1775Arg)single nucleotide variantPathogenicrs41293463GRCh37Chr 17, 41203088: 41203088
30BRCA2NM_000059.3(BRCA2): c.3347_3348insTA (p.Leu1118Tyrfs)insertionPathogenicrs730882134GRCh38Chr 13, 32337702: 32337703
31BRCA1NM_007294.3(BRCA1): c.4186-?_4357+?dupduplicationPathogenic
32BRCA1NM_007294.3(BRCA1): c.5278-?_5467+?deldeletionPathogenic
33BRCA2NM_000059.3(BRCA2): c.5642_5645delAATC (p.Ser1882Lysfs)deletionPathogenicrs786204172GRCh37Chr 13, 32914134: 32914137
34BRCA2NM_000059.3(BRCA2): c.4691dupC (p.Thr1566Aspfs)duplicationPathogenicrs786204209GRCh37Chr 13, 32913183: 32913183
35BRCA2NM_000059.3(BRCA2): c.517-?_631+?deldeletionPathogenic
36BRCA1NM_007294.3(BRCA1): c.1240dupG (p.Asp414Glyfs)duplicationPathogenicrs786204260GRCh37Chr 17, 41246308: 41246308
37BRCA2NM_000059.3(BRCA2): c.774_775delAA (p.Glu260Serfs)deletionLikely pathogenic, Pathogenicrs786204273GRCh38Chr 13, 32331011: 32331012
38BRCA2NM_000059.3(BRCA2): c.3590dupA (p.Asn1198Lysfs)duplicationPathogenicrs797044986GRCh37Chr 13, 32912082: 32912082
39BRCA2NM_000059.3(BRCA2): c.5595_5596delATinsC (p.Phe1866Leufs)indelPathogenicrs797044987GRCh37Chr 13, 32914087: 32914088
40BRCA2NM_000059.3(BRCA2): c.1A> G (p.Met1Val)single nucleotide variantPathogenicrs863224464GRCh38Chr 13, 32316461: 32316461
41BRCA2NM_000059.3(BRCA2): c.6022A> T (p.Lys2008Ter)single nucleotide variantPathogenicrs863224467GRCh38Chr 13, 32340377: 32340377
42BRCA2NM_000059.3(BRCA2): c.6842-?_7007+?deldeletionPathogenic
43BRCA2NM_000059.3(BRCA2): c.7872T> G (p.Tyr2624Ter)single nucleotide variantPathogenicrs863224468GRCh37Chr 13, 32936726: 32936726
44BRCA2NM_000059.3(BRCA2): c.8143A> T (p.Lys2715Ter)single nucleotide variantPathogenicrs863224469GRCh37Chr 13, 32937482: 32937482
45BRCA2NM_000059.3(BRCA2): c.8420C> A (p.Ser2807Ter)single nucleotide variantPathogenicrs55763607GRCh37Chr 13, 32944627: 32944627
46BRCA1NM_007294.3(BRCA1): c.(?_-1)_5074+?deldeletionPathogenicGRCh37Chr 17, 41219625: 41276114
47BRCA1NM_007294.3(BRCA1): c.135-?_5193+?deldeletionPathogenic
48BRCA1NM_007294.3(BRCA1): c.2043dupT (p.Asn682Terfs)duplicationPathogenicrs863224510GRCh37Chr 17, 41245505: 41245505
49BRCA1NM_007294.3(BRCA1): c.4186-?_5193+?deldeletionPathogenic
50BRCA1NM_007294.3(BRCA1): c.4358-?_4484+?deldeletionPathogenic
51BRCA1NM_007294.3(BRCA1): c.4474G> T (p.Gly1492Ter)single nucleotide variantPathogenicrs863224511GRCh38Chr 17, 43076498: 43076498
52BRCA1NM_007294.3(BRCA1): c.4676-?_5074+?deldeletionPathogenic
53BRCA1NM_007294.3(BRCA1): c.490delA (p.Thr164Leufs)deletionPathogenicrs863224512GRCh37Chr 17, 41251849: 41251849
54BRCA1NM_007294.3(BRCA1): c.5278-?_*(1_?)deldeletionPathogenicGRCh38Chr 17, 43045677: 43051117
55BRCA2NM_000059.3(BRCA2): c.1570_1571delAT (p.Met524Aspfs)deletionPathogenicrs863224824GRCh38Chr 13, 32333048: 32333049
56BRCA2NM_000059.3(BRCA2): c.4176delT (p.Ala1393Argfs)deletionPathogenicrs863224825GRCh37Chr 13, 32912668: 32912668
57BRCA2NM_000059.3(BRCA2): c.4515_4525delCTTCCAGGGAC (p.Phe1506Thrfs)deletionPathogenicrs863224827GRCh38Chr 13, 32338870: 32338880
58BRCA2NM_000059.3(BRCA2): c.4587dupG (p.Lys1530Glufs)duplicationPathogenicrs745456776GRCh38Chr 13, 32338942: 32338942
59BRCA2NM_000059.3(BRCA2): c.7946delC (p.Pro2649Glnfs)deletionPathogenicrs863224828GRCh37Chr 13, 32936800: 32936800
60BRCA1NM_007294.3(BRCA1): c.(?_-1)_134+?deldeletionPathogenicGRCh37Chr 17, 41267743: 41276114
61BRCA1NM_007294.3(BRCA1): c.(?_-1)_80+?deldeletionPathogenicGRCh37Chr 17, 41276034: 41276114
62BRCA2NM_000059.3(BRCA2): c.5016C> G (p.Tyr1672Ter)single nucleotide variantPathogenicrs864622073GRCh37Chr 13, 32913508: 32913508
63BRCA2NM_000059.3(BRCA2): c.8633-?_9256+?deldeletionPathogenic
64BRCA2NM_000059.3(BRCA2): c.6254T> G (p.Leu2085Ter)single nucleotide variantPathogenicrs864622082GRCh38Chr 13, 32340609: 32340609
65BRCA2NM_000059.3(BRCA2): c.6998dupT (p.Pro2334Thrfs)duplicationPathogenicrs754611265GRCh37Chr 13, 32921024: 32921024
66BRCA1NM_007294.3(BRCA1): c.4709dupT (p.Phe1571Leufs)duplicationPathogenicrs864622132GRCh37Chr 17, 41223222: 41223222
67BRCA2NM_000059.3(BRCA2): c.3649delA (p.Arg1217Glyfs)deletionPathogenicrs864622134GRCh37Chr 13, 32912141: 32912141
68BRCA1NM_007294.3(BRCA1): c.5407-?_*(1_?)deldeletionPathogenicGRCh37Chr 17, 41197694: 41199720
69BRCA2NM_000059.3(BRCA2): c.8987T> A (p.Leu2996Ter)single nucleotide variantPathogenicrs864622200GRCh38Chr 13, 32379783: 32379783
70BRCA1NM_007294.3(BRCA1): c.548-?_4185+?deldeletionPathogenic
71BRCA1NM_007294.3(BRCA1): c.531dupT (p.Val178Cysfs)duplicationPathogenicrs864622350GRCh37Chr 17, 41251808: 41251808
72BRCA2NM_000059.3(BRCA2): c.4740_4741dupTG (p.Glu1581Valfs)duplicationPathogenicrs864622401GRCh37Chr 13, 32913232: 32913233
73BRCA2NM_000059.3(BRCA2): c.7806-?_8331+?deldeletionPathogenic
74BRCA2NM_000059.3(BRCA2): c.144delA (p.Glu49Asnfs)deletionPathogenicrs864622434GRCh37Chr 13, 32893290: 32893290
75BRCA1NM_007294.3(BRCA1): c.2378dupA (p.Ala794Glyfs)duplicationPathogenicrs864622536GRCh37Chr 17, 41245170: 41245170
76BRCA2NM_000059.3(BRCA2): c.9027T> G (p.Tyr3009Ter)single nucleotide variantPathogenicrs864622568GRCh37Chr 13, 32953960: 32953960
77BRCA2NM_000059.3(BRCA2): c.3191C> G (p.Ser1064Ter)single nucleotide variantPathogenicrs864622609GRCh38Chr 13, 32337546: 32337546
78BRCA2NM_000059.3(BRCA2): c.3201delT (p.Val1068Tyrfs)deletionPathogenicrs864622672GRCh37Chr 13, 32911693: 32911693
79BRCA2NM_000059.3(BRCA2): c.8902_8913delACCGTGTGGAAGinsTCCC (p.Thr2968Serfs)indelPathogenicrs864622735GRCh37Chr 13, 32953601: 32953612
80BRCA2NM_000059.3: c.156_157insALUinsertionPathogenic
81BRCA1NM_007294.3(BRCA1): c.81-?_134+?deldeletionPathogenic
82BRCA2NM_000059.3: c.9342_9343insALUinsertionPathogenic
83BRCA1NM_007294.3(BRCA1): c.(?_-1)_(*1_?)deldeletionPathogenic
84BRCA2NM_000059.3(BRCA2): c.4619_4623delACAAA (p.Asp1540Glyfs)deletionPathogenicrs869320793GRCh37Chr 13, 32913111: 32913115
85BRCA2NM_000059.3(BRCA2): c.1832C> G (p.Ser611Ter)single nucleotide variantPathogenicrs80358474GRCh38Chr 13, 32333310: 32333310
86BRCA2NM_000059.3(BRCA2): c.3187C> T (p.Gln1063Ter)single nucleotide variantPathogenicrs876657678GRCh37Chr 13, 32911679: 32911679
87BRCA2NM_000059.3(BRCA2): c.9195_9196delTCinsAT (p.Phe3065_Gln3066delinsLeuTer)indelPathogenicrs876659047GRCh37Chr 13, 32954221: 32954222
88BRCA2NM_000059.3(BRCA2): c.9409_9412delACTT (p.Thr3137Tyrfs)deletionPathogenicrs876659211GRCh37Chr 13, 32968978: 32968981
89BRCA2NM_000059.3(BRCA2): c.9381G> A (p.Trp3127Ter)single nucleotide variantPathogenicrs876661242GRCh37Chr 13, 32968950: 32968950
90BRCA2NM_000059.3(BRCA2): c.1189C> T (p.Gln397Ter)single nucleotide variantPathogenicrs760815829GRCh38Chr 13, 32332667: 32332667
91BRCA2NM_000059.3(BRCA2): c.2095C> T (p.Gln699Ter)single nucleotide variantPathogenicrs878853559GRCh38Chr 13, 32336450: 32336450
92BRCA2NM_000059.3(BRCA2): c.2151_2152delTG (p.Cys717Terfs)deletionPathogenicrs878853560GRCh38Chr 13, 32336506: 32336507
93BRCA2NM_000059.3(BRCA2): c.2239G> T (p.Glu747Ter)single nucleotide variantPathogenicrs878853561GRCh38Chr 13, 32336594: 32336594
94BRCA2NM_000059.3(BRCA2): c.3349delA (p.Ile1117Tyrfs)deletionPathogenicrs878853567GRCh37Chr 13, 32911841: 32911841
95BRCA2NM_000059.3(BRCA2): c.342_343delTA (p.His114Glnfs)deletionPathogenicrs878853568GRCh38Chr 13, 32325101: 32325102
96BRCA2NM_000059.3(BRCA2): c.3481_3482dupGA (p.Asp1161Glufs)duplicationPathogenicrs878853569GRCh37Chr 13, 32911973: 32911974
97BRCA2NM_000059.3(BRCA2): c.3688delT (p.Ser1230Leufs)deletionPathogenicrs878853573GRCh37Chr 13, 32912180: 32912180
98BRCA2NM_000059.3(BRCA2): c.4007_4008insCATC (p.Asp1337Ilefs)insertionPathogenicrs878853577GRCh37Chr 13, 32912499: 32912500
99BRCA2NM_000059.3(BRCA2): c.4170_4171delGG (p.Glu1391Serfs)deletionPathogenicrs878853579GRCh38Chr 13, 32338525: 32338526
100BRCA2NM_000059.3(BRCA2): c.4707C> A (p.Tyr1569Ter)single nucleotide variantPathogenicrs878853585GRCh37Chr 13, 32913199: 32913199
101BRCA2NM_000059.3(BRCA2): c.6233dupG (p.Val2079Serfs)duplicationPathogenicrs878853595GRCh37Chr 13, 32914725: 32914725
102BRCA2NM_000059.3(BRCA2): c.6428C> A (p.Ser2143Ter)single nucleotide variantPathogenicrs149330893GRCh37Chr 13, 32914920: 32914920
103BRCA2NM_000059.3(BRCA2): c.7007+1G> Asingle nucleotide variantPathogenicrs397507891GRCh38Chr 13, 32346897: 32346897
104BRCA2NM_000059.3(BRCA2): c.7147dupT (p.Tyr2383Leufs)duplicationPathogenicrs878853599GRCh37Chr 13, 32929137: 32929137
105BRCA2NM_000059.3(BRCA2): c.7673delA (p.Glu2558Glyfs)deletionPathogenicrs878853605GRCh38Chr 13, 32357797: 32357797
106BRCA2NM_000059.3(BRCA2): c.8223delG (p.Asn2742Metfs)deletionPathogenicrs878853608GRCh37Chr 13, 32937562: 32937562
107BRCA2NM_000059.3(BRCA2): c.8585_8586delTA (p.Leu2862Argfs)deletionPathogenicrs878853611GRCh38Chr 13, 32371053: 32371054
108BRCA2NM_000059.3(BRCA2): c.9270delC (p.Phe3090Leufs)deletionPathogenicrs878853619GRCh38Chr 13, 32394702: 32394702
109BRCA1NM_007294.3(BRCA1): c.1148delA (p.Asn383Metfs)deletionPathogenicrs878854930GRCh37Chr 17, 41246400: 41246400
110BRCA1NM_007294.3(BRCA1): c.1601_1602delAG (p.Gln534Argfs)deletionPathogenicrs878854933GRCh38Chr 17, 43093929: 43093930
111BRCA1NM_007294.3(BRCA1): c.1799delT (p.Ile600Thrfs)deletionPathogenicrs878854934GRCh37Chr 17, 41245749: 41245749
112BRCA1NM_007294.3(BRCA1): c.1923dupT (p.Asp642Terfs)duplicationPathogenicrs878854935GRCh38Chr 17, 43093608: 43093608
113BRCA1NM_007294.3(BRCA1): c.2226_2227delTA (p.Asn742Lysfs)deletionPathogenicrs878854938GRCh38Chr 17, 43093304: 43093305
114BRCA1NM_007294.3(BRCA1): c.2912_2913delAT (p.His971Argfs)deletionPathogenicrs878854940GRCh37Chr 17, 41244635: 41244636
115BRCA1NM_007294.3(BRCA1): c.3893C> G (p.Ser1298Ter)single nucleotide variantPathogenicrs80357440GRCh37Chr 17, 41243655: 41243655
116BRCA1NM_007294.3(BRCA1): c.4186-2A> Gsingle nucleotide variantPathogenicrs878854950GRCh37Chr 17, 41234594: 41234594
117BRCA1NM_007294.3(BRCA1): c.4370C> A (p.Ser1457Ter)single nucleotide variantPathogenicrs80357130GRCh38Chr 17, 43076602: 43076602
118BRCA1NM_007294.3(BRCA1): c.649delA (p.Ser217Valfs)deletionPathogenicrs878854963GRCh38Chr 17, 43095867: 43095867
119BRCA1NM_007294.3(BRCA1): c.116G> T (p.Cys39Phe)single nucleotide variantPathogenicrs80357498GRCh37Chr 17, 41267761: 41267761
120BRCA1NM_007294.3(BRCA1): c.143delT (p.Met48Serfs)deletionPathogenicrs80357637GRCh37Chr 17, 41258542: 41258542
121BRCA1NM_007294.3(BRCA1): c.1444_1447delATTA (p.Ile482Terfs)deletionPathogenicrs80357801GRCh37Chr 17, 41246101: 41246104
122BRCA1NM_007294.3(BRCA1): c.1504_1508delTTAAA (p.Leu502Alafs)deletionPathogenicrs80357888GRCh37Chr 17, 41246040: 41246044
123BRCA1NM_007294.3(BRCA1): c.1674delA (p.Gly559Valfs)deletionPathogenicrs80357600GRCh37Chr 17, 41245874: 41245874
124BRCA1NM_007294.3(BRCA1): c.1687C> T (p.Gln563Ter)single nucleotide variantPathogenicrs80356898GRCh37Chr 17, 41245861: 41245861
125BRCA1NM_007294.3(BRCA1): c.1953_1956delGAAA (p.Lys653Serfs)deletionPathogenicrs80357526GRCh37Chr 17, 41245592: 41245595
126BRCA1NM_007294.3(BRCA1): c.1960A> T (p.Lys654Ter)single nucleotide variantPathogenicrs80357355GRCh37Chr 17, 41245588: 41245588
127BRCA1NM_007294.3(BRCA1): c.1961delA (p.Lys654Serfs)deletionPathogenicrs80357522GRCh37Chr 17, 41245587: 41245587
128BRCA1NM_007294.3(BRCA1): c.2071delA (p.Arg691Aspfs)deletionPathogenicrs80357688GRCh37Chr 17, 41245477: 41245477
129BRCA1NM_007294.3(BRCA1): c.2105dupT (p.Leu702Phefs)duplicationPathogenicrs80357880GRCh37Chr 17, 41245443: 41245443
130BRCA1NM_007294.3(BRCA1): c.213-11T> Gsingle nucleotide variantPathogenicrs80358061GRCh37Chr 17, 41256984: 41256984
131BRCA1NM_007294.3(BRCA1): c.213-12A> Gsingle nucleotide variantPathogenicrs80358163GRCh37Chr 17, 41256985: 41256985
132BRCA1NM_007294.3(BRCA1): c.2138C> G (p.Ser713Ter)single nucleotide variantPathogenicrs80357233GRCh37Chr 17, 41245410: 41245410
133BRCA1NM_007294.3(BRCA1): c.2411_2412delAG (p.Gln804Leufs)deletionPathogenicrs80357664GRCh37Chr 17, 41245136: 41245137
134BRCA1NM_007294.3(BRCA1): c.2433delC (p.Lys812Argfs)deletionPathogenicrs80357524GRCh37Chr 17, 41245115: 41245115
135BRCA1NM_007294.3(BRCA1): c.2457delC (p.Asp821Ilefs)deletionPathogenicrs80357669GRCh37Chr 17, 41245091: 41245091
136BRCA1NM_007294.3(BRCA1): c.2475delC (p.Asp825Glufs)deletionPathogenicrs80357970GRCh37Chr 17, 41245073: 41245073
137BRCA1NM_007294.3(BRCA1): c.2635G> T (p.Glu879Ter)single nucleotide variantLikely pathogenic, Pathogenicrs80357251GRCh37Chr 17, 41244913: 41244913
138BRCA1NM_007294.3(BRCA1): c.2679_2682delGAAA (p.Lys893Asnfs)deletionPathogenicrs80357596GRCh37Chr 17, 41244866: 41244869
139BRCA1NM_007294.3(BRCA1): c.2806_2809delGATA (p.Asp936Serfs)deletionPathogenicrs80357832GRCh37Chr 17, 41244739: 41244742
140BRCA1NM_007294.3(BRCA1): c.2934T> G (p.Tyr978Ter)single nucleotide variantPathogenicrs80357115GRCh37Chr 17, 41244614: 41244614
141BRCA1NM_007294.3(BRCA1): c.3228_3229delAG (p.Gly1077Alafs)deletionPathogenicrs80357635GRCh37Chr 17, 41244319: 41244320
142BRCA1NM_007294.3(BRCA1): c.3331_3334delCAAG (p.Gln1111Asnfs)deletionPathogenicrs80357701GRCh37Chr 17, 41244214: 41244217
143BRCA1NM_007294.3(BRCA1): c.3400G> T (p.Glu1134Ter)single nucleotide variantPathogenicrs80357018GRCh37Chr 17, 41244148: 41244148
144BRCA1NM_007294.3(BRCA1): c.3485delA (p.Asp1162Valfs)deletionPathogenicrs80357509GRCh37Chr 17, 41244063: 41244063
145BRCA1NM_007294.3(BRCA1): c.3627dupA (p.Glu1210Argfs)duplicationPathogenicrs80357729GRCh37Chr 17, 41243921: 41243921
146BRCA1NM_007294.3(BRCA1): c.3648dupA (p.Ser1217Ilefs)duplicationPathogenicrs80357902GRCh37Chr 17, 41243900: 41243900
147BRCA1NM_007294.3(BRCA1): c.3700_3704delGTAAA (p.Val1234Glnfs)deletionPathogenicrs80357609GRCh37Chr 17, 41243844: 41243848
148BRCA1NM_007294.3(BRCA1): c.3764dupA (p.Asn1255Lysfs)duplicationPathogenicrs80357848GRCh37Chr 17, 41243784: 41243784
149BRCA1NM_007294.3(BRCA1): c.3770_3771delAG (p.Glu1257Glyfs)deletionPathogenicrs80357579GRCh37Chr 17, 41243777: 41243778
150BRCA1NM_007294.3(BRCA1): c.3858_3861delTGAG (p.Ser1286Argfs)deletionPathogenicrs80357842GRCh37Chr 17, 41243687: 41243690
151BRCA1NM_007294.3(BRCA1): c.4035delA (p.Glu1346Lysfs)deletionPathogenicrs80357711GRCh37Chr 17, 41243513: 41243513
152BRCA1NM_007294.3(BRCA1): c.4096+1G> Asingle nucleotide variantLikely pathogenic, Pathogenicrs80358178GRCh37Chr 17, 41243451: 41243451
153BRCA1NM_007294.3(BRCA1): c.4096+3A> Gsingle nucleotide variantLikely pathogenic, Pathogenicrs80358015GRCh37Chr 17, 41243449: 41243449
154BRCA1NM_007294.3(BRCA1): c.4117G> T (p.Glu1373Ter)single nucleotide variantPathogenicrs80357259GRCh37Chr 17, 41243029: 41243029
155BRCA1NM_007294.3(BRCA1): c.427G> T (p.Glu143Ter)single nucleotide variantPathogenicrs80356991GRCh37Chr 17, 41256153: 41256153
156BRCA1NM_007294.3(BRCA1): c.4357+1G> Asingle nucleotide variantPathogenicrs80358027GRCh37Chr 17, 41234420: 41234420
157BRCA1NM_007294.3(BRCA1): c.4391_4393delCTAinsTT (p.Pro1464Leufs)indelLikely pathogenic, Pathogenicrs273900730GRCh37Chr 17, 41228596: 41228598
158BRCA1NM_007294.3(BRCA1): c.4484G> T (p.Arg1495Met)single nucleotide variantPathogenicrs80357389GRCh37Chr 17, 41228505: 41228505
159BRCA1NM_007294.3(BRCA1): c.4689C> G (p.Tyr1563Ter)single nucleotide variantPathogenicrs80357433GRCh37Chr 17, 41223242: 41223242
160BRCA1NM_007294.3(BRCA1): c.470_471delCT (p.Ser157Terfs)deletionPathogenicrs80357887GRCh37Chr 17, 41251868: 41251869
161BRCA1NM_007294.3(BRCA1): c.4868C> G (p.Ala1623Gly)single nucleotide variantLikely pathogenic, Pathogenicrs80356862GRCh37Chr 17, 41223063: 41223063
162BRCA1NM_007294.3(BRCA1): c.4964_4982del19 (p.Ser1655Tyrfs)deletionLikely pathogenic, Pathogenicrs80359876GRCh37Chr 17, 41222949: 41222967
163BRCA1NM_007294.3(BRCA1): c.4986+6T> Csingle nucleotide variantLikely pathogenic, Pathogenicrs80358086GRCh37Chr 17, 41222939: 41222939
164BRCA1NM_007294.3(BRCA1): c.5030_5033delCTAA (p.Thr1677Ilefs)deletionPathogenicrs80357580GRCh37Chr 17, 41219666: 41219669
165BRCA1NM_007294.3(BRCA1): c.5096G> A (p.Arg1699Gln)single nucleotide variantLikely pathogenic, Pathogenicrs41293459GRCh37Chr 17, 41215947: 41215947
166BRCA1NM_007294.3(BRCA1): c.5117G> A (p.Gly1706Glu)single nucleotide variantPathogenicrs80356860GRCh37Chr 17, 41215926: 41215926
167BRCA1NM_007294.3(BRCA1): c.5152+1G> Csingle nucleotide variantPathogenicrs80358094GRCh37Chr 17, 41215890: 41215890
168BRCA1NM_007294.3(BRCA1): c.5177_5180delGAAA (p.Arg1726Lysfs)deletionPathogenicrs80357867GRCh37Chr 17, 41215363: 41215366
169BRCA1NM_007294.3(BRCA1): c.5179A> T (p.Lys1727Ter)single nucleotide variantPathogenicrs80357347GRCh37Chr 17, 41215364: 41215364
170BRCA1NM_007294.3(BRCA1): c.5207T> C (p.Val1736Ala)single nucleotide variantLikely pathogenic, Pathogenicrs45553935GRCh37Chr 17, 41209139: 41209139
171BRCA1NM_007294.3(BRCA1): c.5259delA (p.Glu1754Asnfs)deletionPathogenicrs80357925GRCh37Chr 17, 41209087: 41209087
172BRCA1NM_007294.3(BRCA1): c.5335delC (p.Gln1779Asnfs)deletionPathogenicrs80357590GRCh37Chr 17, 41201209: 41201209
173BRCA1NM_007294.3(BRCA1): c.5363G> T (p.Gly1788Val)single nucleotide variantPathogenicrs80357069GRCh37Chr 17, 41201181: 41201181
174BRCA1NM_007294.3(BRCA1): c.5387C> A (p.Ser1796Ter)single nucleotide variantPathogenicrs80357055GRCh37Chr 17, 41201157: 41201157
175BRCA1NM_007294.3(BRCA1): c.5467+1G> Asingle nucleotide variantLikely pathogenic, Pathogenicrs80358145GRCh37Chr 17, 41199659: 41199659
176BRCA1NM_007294.3(BRCA1): c.547+2T> Asingle nucleotide variantPathogenicrs80358047GRCh37Chr 17, 41251790: 41251790
177BRCA1NM_007294.3(BRCA1): c.66dupA (p.Glu23Argfs)duplicationPathogenicrs80357783GRCh37Chr 17, 41276048: 41276048
178BRCA1NM_007294.3(BRCA1): c.676delT (p.Cys226Valfs)deletionPathogenicrs80357941GRCh37Chr 17, 41246872: 41246872
179BRCA1NM_007294.3(BRCA1): c.697_698delGT (p.Val233Asnfs)deletionPathogenicrs80357747GRCh37Chr 17, 41246850: 41246851
180BRCA1NM_007294.3(BRCA1): c.798_799delTT (p.Ser267Lysfs)deletionPathogenicrs80357724GRCh37Chr 17, 41246749: 41246750
181BRCA1NM_007294.3(BRCA1): c.962G> A (p.Trp321Ter)single nucleotide variantPathogenicrs80357292GRCh37Chr 17, 41246586: 41246586
182BRCA2NM_000059.3(BRCA2): c.1257delT (p.Cys419Trpfs)deletionPathogenicrs80359272GRCh37Chr 13, 32906872: 32906872
183BRCA2NM_000059.3(BRCA2): c.1265delA (p.Asn422Ilefs)deletionPathogenicrs80359273GRCh37Chr 13, 32906880: 32906880
184BRCA2NM_000059.3(BRCA2): c.1296_1297delGA (p.Asn433Glnfs)deletionPathogenicrs80359276GRCh37Chr 13, 32906911: 32906912
185BRCA2NM_000059.3(BRCA2): c.1309_1312delAAAG (p.Lys437Ilefs)deletionPathogenicrs80359277GRCh37Chr 13, 32906925: 32906928
186BRCA2NM_000059.3(BRCA2): c.1755_1759delGAAAA (p.Lys585Asnfs)deletionPathogenicrs80359302GRCh37Chr 13, 32907370: 32907374
187BRCA2NM_000059.3(BRCA2): c.1796_1800delCTTAT (p.Ser599Terfs)deletionPathogenicrs276174813GRCh37Chr 13, 32907411: 32907415
188BRCA2NM_000059.3(BRCA2): c.1813dupA (p.Ile605Asnfs)duplicationPathogenicrs80359306GRCh37Chr 13, 32907428: 32907428
189BRCA2NM_000059.3(BRCA2): c.1813delA (p.Ile605Tyrfs)deletionPathogenicrs80359307GRCh37Chr 13, 32907428: 32907428
190BRCA2NM_000059.3(BRCA2): c.1929delG (p.Arg645Glufs)deletionPathogenicrs80359316GRCh37Chr 13, 32910421: 32910421
191BRCA2NM_000059.3(BRCA2): c.2092delC (p.Leu698Tyrfs)deletionPathogenicrs80359322GRCh37Chr 13, 32910584: 32910584
192BRCA2NM_000059.3(BRCA2): c.2426T> G (p.Leu809Ter)single nucleotide variantPathogenicrs397507285GRCh37Chr 13, 32910918: 32910918
193BRCA2NM_000059.3(BRCA2): c.2588dupA (p.Asn863Lysfs)duplicationPathogenicrs80359335GRCh37Chr 13, 32911080: 32911080
194BRCA2NM_000059.3(BRCA2): c.2818C> T (p.Gln940Ter)single nucleotide variantPathogenicrs80358532GRCh37Chr 13, 32911310: 32911310
195BRCA2NM_000059.3(BRCA2): c.2979G> A (p.Trp993Ter)single nucleotide variantPathogenicrs80358544GRCh37Chr 13, 32911471: 32911471
196BRCA2NM_000059.3(BRCA2): c.3009_3010delCA (p.His1003Glnfs)deletionPathogenicrs397507300GRCh37Chr 13, 32911501: 32911502
197BRCA2NM_000059.3(BRCA2): c.3109C> T (p.Gln1037Ter)single nucleotide variantPathogenicrs80358557GRCh37Chr 13, 32911601: 32911601
198BRCA2NM_000059.3(BRCA2): c.3170_3174delAGAAA (p.Lys1057Thrfs)deletionPathogenicrs80359373GRCh37Chr 13, 32911662: 32911666
199BRCA2NM_000059.3(BRCA2): c.3264dupT (p.Gln1089Serfs)duplicationLikely pathogenic, Pathogenicrs80359380GRCh37Chr 13, 32911756: 32911756
200BRCA2NM_000059.3(BRCA2): c.3545_3546delTT (p.Phe1182Terfs)deletionPathogenicrs80359388GRCh37Chr 13, 32912037: 32912038
201BRCA2NM_000059.3(BRCA2): c.3717delA (p.Lys1239Asnfs)deletionPathogenicrs80359401GRCh37Chr 13, 32912209: 32912209
202BRCA2NM_000059.3(BRCA2): c.3744_3747delTGAG (p.Ser1248Argfs)deletionPathogenicrs80359403GRCh37Chr 13, 32912236: 32912239
203BRCA2NM_000059.3(BRCA2): c.3847_3848delGT (p.Val1283Lysfs)deletionPathogenicrs80359405GRCh37Chr 13, 32912339: 32912340
204BRCA2NM_000059.3(BRCA2): c.3865_3868delAAAT (p.Lys1289Alafs)deletionPathogenicrs80359412GRCh37Chr 13, 32912357: 32912360
205BRCA2NM_000059.3(BRCA2): c.3922G> T (p.Glu1308Ter)single nucleotide variantPathogenicrs80358638GRCh37Chr 13, 32912414: 32912414
206BRCA2NM_000059.3(BRCA2): c.4058_4062delAAACG (p.Glu1353Glyfs)deletionPathogenicrs397507322GRCh37Chr 13, 32912550: 32912554
207BRCA2NM_000059.3(BRCA2): c.4127_4130delGAAA (p.Gly1376Alafs)deletionPathogenicrs397507323GRCh37Chr 13, 32912619: 32912622
208BRCA2NM_000059.3(BRCA2): c.4163_4164delCTinsA (p.Thr1388Asnfs)indelPathogenicrs276174843GRCh37Chr 13, 32912655: 32912656
209BRCA2NM_000059.3(BRCA2): c.4222C> T (p.Gln1408Ter)single nucleotide variantPathogenicrs80358663GRCh37Chr 13, 32912714: 32912714
210BRCA2NM_000059.3(BRCA2): c.4284dupT (p.Gln1429Serfs)duplicationLikely pathogenic, Pathogenicrs80359439GRCh37Chr 13, 32912776: 32912776
211BRCA2NM_000059.3(BRCA2): c.4415_4418delAGAA (p.Lys1472Thrfs)deletionPathogenicrs397507333GRCh37Chr 13, 32912907: 32912910
212BRCA2NM_000059.3(BRCA2): c.4472_4475delTGAA (p.Leu1491Glnfs)deletionPathogenicrs80359452GRCh37Chr 13, 32912964: 32912967
213BRCA2NM_000059.3(BRCA2): c.4631dupA (p.Asn1544Lysfs)duplicationPathogenicrs80359460GRCh37Chr 13, 32913123: 32913123
214BRCA2NM_000059.3(BRCA2): c.4631delA (p.Asn1544Thrfs)deletionLikely pathogenic, Pathogenicrs80359461GRCh37Chr 13, 32913123: 32913123
215BRCA2NM_000059.3(BRCA2): c.4638delT (p.Phe1546Leufs)deletionPathogenicrs80359462GRCh37Chr 13, 32913130: 32913130
216BRCA2NM_000059.3(BRCA2): c.4876_4877delAA (p.Asn1626Serfs)deletionPathogenicrs80359470GRCh37Chr 13, 32913368: 32913369
217BRCA2NM_000059.3(BRCA2): c.4936_4939delGAAA (p.Glu1646Glnfs)deletionPathogenicrs80359473GRCh37Chr 13, 32913428: 32913431
218BRCA2NM_000059.3(BRCA2): c.4965C> G (p.Tyr1655Ter)single nucleotide variantPathogenicrs80358721GRCh37Chr 13, 32913457: 32913457
219BRCA2NM_000059.3(BRCA2): c.5042_5043delTG (p.Val1681Glufs)deletionPathogenicrs80359478GRCh37Chr 13, 32913534: 32913535
220BRCA2NM_000059.3(BRCA2): c.5073dupA (p.Trp1692Metfs)duplicationPathogenicrs80359480GRCh37Chr 13, 32913565: 32913565
221BRCA2NM_000059.3(BRCA2): c.5213_5216delCTTA (p.Thr1738Ilefs)deletionPathogenicrs80359493GRCh37Chr 13, 32913705: 32913708
222BRCA2NM_000059.3(BRCA2): c.5290_5291delTC (p.Ser1764Lysfs)deletionPathogenicrs80359503GRCh37Chr 13, 32913782: 32913783
223BRCA2NM_000059.3(BRCA2): c.5350_5351delAA (p.Asn1784Hisfs)deletionPathogenicrs80359507GRCh37Chr 13, 32913842: 32913843
224BRCA2NM_000059.3(BRCA2): c.5351dupA (p.Asn1784Lysfs)duplicationPathogenicrs80359508GRCh37Chr 13, 32913843: 32913843
225BRCA2NM_000059.3(BRCA2): c.5576_5579delTTAA (p.Ile1859Lysfs)deletionPathogenicrs80359520GRCh37Chr 13, 32914068: 32914071
226BRCA2NM_000059.3(BRCA2): c.5645C> A (p.Ser1882Ter)single nucleotide variantPathogenicrs80358785GRCh37Chr 13, 32914137: 32914137
227BRCA2NM_000059.3(BRCA2): c.5655C> A (p.Cys1885Ter)single nucleotide variantPathogenicrs80358789GRCh37Chr 13, 32914147: 32914147
228BRCA2NM_000059.3(BRCA2): c.5681dupA (p.Tyr1894Terfs)duplicationPathogenicrs80359527GRCh37Chr 13, 32914173: 32914173
229BRCA2NM_000059.3(BRCA2): c.5682C> G (p.Tyr1894Ter)single nucleotide variantPathogenicrs41293497GRCh37Chr 13, 32914174: 32914174
230BRCA2NM_000059.3(BRCA2): c.5782G> T (p.Glu1928Ter)single nucleotide variantPathogenicrs56253082GRCh37Chr 13, 32914274: 32914274
231BRCA2NM_000059.3(BRCA2): c.5799_5802delCCAA (p.Asn1933Lysfs)deletionPathogenicrs80359538GRCh37Chr 13, 32914291: 32914294
232BRCA2NM_000059.3(BRCA2): c.5828delC (p.Ser1943Leufs)deletionPathogenicrs80359541GRCh37Chr 13, 32914320: 32914320
233BRCA2NM_000059.3(BRCA2): c.5855T> A (p.Leu1952Ter)single nucleotide variantLikely pathogenic, Pathogenicrs375064902GRCh37Chr 13, 32914347: 32914347
234BRCA2NM_000059.3(BRCA2): c.5980C> T (p.Gln1994Ter)single nucleotide variantPathogenicrs80358831GRCh37Chr 13, 32914472: 32914472
235BRCA2NM_000059.3(BRCA2): c.6024dupG (p.Gln2009Alafs)duplicationPathogenicrs80359554GRCh37Chr 13, 32914516: 32914516
236BRCA2NM_000059.3(BRCA2): c.6037A> T (p.Lys2013Ter)single nucleotide variantLikely pathogenic, Pathogenicrs80358840GRCh37Chr 13, 32914529: 32914529
237BRCA2NM_000059.3(BRCA2): c.6373dupA (p.Thr2125Asnfs)duplicationPathogenicrs80359577GRCh37Chr 13, 32914865: 32914865
238BRCA2NM_000059.3(BRCA2): c.6405_6409delCTTAA (p.Asn2135Lysfs)deletionPathogenicrs80359584GRCh37Chr 13, 32914897: 32914901
239BRCA2NM_000059.3(BRCA2): c.6468_6469delTC (p.Gln2157Ilefs)deletionPathogenicrs80359596GRCh37Chr 13, 32914960: 32914961
240BRCA2NM_000059.3(BRCA2): c.6566dupA (p.Asn2189Lysfs)duplicationPathogenicrs397507373GRCh37Chr 13, 32915058: 32915058
241BRCA2NM_000059.3(BRCA2): c.6952C> T (p.Arg2318Ter)single nucleotide variantPathogenicrs80358920GRCh37Chr 13, 32920978: 32920978
242BRCA2NM_000059.3(BRCA2): c.7007G> A (p.Arg2336His)single nucleotide variantPathogenicrs28897743GRCh37Chr 13, 32921033: 32921033
243BRCA2NM_000059.3(BRCA2): c.7069_7070delCT (p.Leu2357Valfs)deletionPathogenicrs80359636GRCh37Chr 13, 32929059: 32929060
244BRCA2NM_000059.3(BRCA2): c.7480C> T (p.Arg2494Ter)single nucleotide variantPathogenicrs80358972GRCh37Chr 13, 32930609: 32930609
245BRCA2NM_000059.3(BRCA2): c.755_758delACAG (p.Asp252Valfs)deletionPathogenicrs80359659GRCh37Chr 13, 32905129: 32905132
246BRCA2NM_000059.3(BRCA2): c.7618-1G> Asingle nucleotide variantPathogenicrs397507389GRCh37Chr 13, 32931878: 32931878
247BRCA2NM_000059.3(BRCA2): c.778_779delGA (p.Glu260Serfs)deletionPathogenicrs80359677GRCh37Chr 13, 32905152: 32905153
248BRCA2NM_000059.3(BRCA2): c.7878G> A (p.Trp2626Ter)single nucleotide variantPathogenicrs80359013GRCh37Chr 13, 32936732: 32936732
249BRCA2NM_000059.3(BRCA2): c.7878G> C (p.Trp2626Cys)single nucleotide variantPathogenicrs80359013GRCh37Chr 13, 32936732: 32936732
250BRCA2NM_000059.3(BRCA2): c.7976G> A (p.Arg2659Lys)single nucleotide variantPathogenicrs80359027GRCh37Chr 13, 32936830: 32936830
251BRCA2NM_000059.3(BRCA2): c.7977-1G> Csingle nucleotide variantPathogenicrs81002874GRCh37Chr 13, 32937315: 32937315
252BRCA2NM_000059.3(BRCA2): c.8297delC (p.Thr2766Asnfs)deletionPathogenicrs80359705GRCh37Chr 13, 32937636: 32937636
253BRCA2NM_000059.3(BRCA2): c.8488-1G> Asingle nucleotide variantLikely pathogenic, Pathogenicrs397507404GRCh37Chr 13, 32945092: 32945092
254BRCA2NM_000059.3(BRCA2): c.8575delC (p.Gln2859Lysfs)deletionPathogenicrs80359718GRCh37Chr 13, 32945180: 32945180
255BRCA2NM_000059.3(BRCA2): c.8677C> T (p.Gln2893Ter)single nucleotide variantPathogenicrs397507409GRCh37Chr 13, 32950851: 32950851
256BRCA2NM_000059.3(BRCA2): c.8904delC (p.Val2969Cysfs)deletionPathogenicrs80359730GRCh37Chr 13, 32953603: 32953603
257BRCA2NM_000059.3(BRCA2): c.8953+1G> Tsingle nucleotide variantPathogenicrs81002882GRCh37Chr 13, 32953653: 32953653
258BRCA2NM_000059.3(BRCA2): c.9004G> A (p.Glu3002Lys)single nucleotide variantLikely pathogenic, Pathogenicrs80359152GRCh37Chr 13, 32953937: 32953937
259BRCA2NM_000059.3(BRCA2): c.9026_9030delATCAT (p.Tyr3009Serfs)deletionPathogenicrs80359741GRCh37Chr 13, 32953959: 32953963
260BRCA2NM_000059.3(BRCA2): c.9097dupA (p.Thr3033Asnfs)duplicationPathogenicrs397507419GRCh37Chr 13, 32954030: 32954030
261BRCA2NM_000059.3(BRCA2): c.9117G> A (p.Pro3039=)single nucleotide variantPathogenicrs28897756GRCh37Chr 13, 32954050: 32954050
262BRCA2NM_000059.3(BRCA2): c.9253dupA (p.Thr3085Asnfs)duplicationLikely pathogenic, Pathogenicrs80359752GRCh37Chr 13, 32954279: 32954279
263BRCA2NM_000059.3(BRCA2): c.9294C> G (p.Tyr3098Ter)single nucleotide variantPathogenicrs80359200GRCh37Chr 13, 32968863: 32968863
264BRCA2NM_000059.3(BRCA2): c.9371A> T (p.Asn3124Ile)single nucleotide variantLikely pathogenic, Pathogenicrs28897759GRCh37Chr 13, 32968940: 32968940
265BRCA2NM_000059.3(BRCA2): c.9435_9436delGT (p.Ser3147Cysfs)deletionPathogenicrs80359763GRCh37Chr 13, 32969004: 32969005
266BRCA2NM_000059.3(BRCA2): c.9699_9702delTATG (p.Cys3233Trpfs)deletionLikely pathogenic, Pathogenicrs80359775GRCh37Chr 13, 32972349: 32972352
267BRCA2NM_000059.3(BRCA2): c.5482_5486delAAATT (p.Lys1828Valfs)deletionPathogenicrs80359516GRCh37Chr 13, 32913974: 32913978
268BRCA2NM_000059.3(BRCA2): c.1138delA (p.Ser380Valfs)deletionPathogenicrs80359264GRCh37Chr 13, 32906753: 32906753
269BRCA2NM_000059.3(BRCA2): c.1189_1190insTTAG (p.Gln397Leufs)insertionPathogenicrs397515635GRCh37Chr 13, 32906804: 32906805
270BRCA2NM_000059.3(BRCA2): c.1327G> T (p.Glu443Ter)single nucleotide variantLikely pathogenic, Pathogenicrs397507579GRCh37Chr 13, 32906942: 32906942
271BRCA2NM_000059.3(BRCA2): c.1389_1390delAG (p.Val464Glyfs)deletionPathogenicrs80359283GRCh37Chr 13, 32907004: 32907005
272BRCA2NM_000059.3(BRCA2): c.1411G> T (p.Glu471Ter)single nucleotide variantPathogenicrs80358428GRCh37Chr 13, 32907026: 32907026
273BRCA2NM_000059.3(BRCA2): c.145G> T (p.Glu49Ter)single nucleotide variantLikely pathogenic, Pathogenicrs80358435GRCh37Chr 13, 32893291: 32893291
274BRCA2NM_000059.3(BRCA2): c.1654delT (p.Ser552Profs)deletionPathogenicrs80359297GRCh37Chr 13, 32907269: 32907269
275BRCA2NM_000059.3(BRCA2): c.1763_1766delATAA (p.Asn588Serfs)deletionPathogenicrs80359303GRCh37Chr 13, 32907378: 32907381
276BRCA2NM_000059.3(BRCA2): c.1773_1776delTTAT (p.Ile591Metfs)deletionPathogenicrs80359304GRCh37Chr 13, 32907388: 32907391
277BRCA2NM_000059.3(BRCA2): c.1855C> T (p.Gln619Ter)single nucleotide variantPathogenicrs80358476GRCh37Chr 13, 32907470: 32907470
278BRCA2NM_000059.3(BRCA2): c.1889delC (p.Thr630Asnfs)deletionPathogenicrs80359315GRCh37Chr 13, 32907504: 32907504
279BRCA2NM_000059.3(BRCA2): c.2471T> G (p.Leu824Ter)single nucleotide variantPathogenicrs397507631GRCh37Chr 13, 32910963: 32910963
280BRCA2NM_000059.3(BRCA2): c.250C> T (p.Gln84Ter)single nucleotide variantPathogenicrs80358515GRCh37Chr 13, 32893396: 32893396
281BRCA2NM_000059.3(BRCA2): c.262_263delCT (p.Leu88Alafs)deletionPathogenicrs276174825GRCh37Chr 13, 32893408: 32893409
282BRCA2NM_000059.3(BRCA2): c.26delC (p.Pro9Glnfs)deletionPathogenicrs80359343GRCh37Chr 13, 32890623: 32890623
283BRCA2NM_000059.3(BRCA2): c.2812_2815delGCAA (p.Ala938Profs)deletionPathogenicrs80359354GRCh37Chr 13, 32911304: 32911307
284BRCA2NM_000059.3(BRCA2): c.2836_2837delGA (p.Asp946Phefs)deletionPathogenicrs80359357GRCh37Chr 13, 32911328: 32911329
285BRCA2NM_000059.3(BRCA2): c.2957dupA (p.Asn986Lysfs)duplicationPathogenicrs80359365GRCh37Chr 13, 32911449: 32911449
286BRCA2NM_000059.3(BRCA2): c.3103G> T (p.Glu1035Ter)single nucleotide variantPathogenicrs80358556GRCh37Chr 13, 32911595: 32911595
287BRCA2NM_000059.3(BRCA2): c.316+5G> Asingle nucleotide variantLikely pathogenic, Pathogenicrs81002840GRCh37Chr 13, 32893467: 32893467
288BRCA2NM_000059.3(BRCA2): c.3166C> T (p.Gln1056Ter)single nucleotide variantPathogenicrs79728106GRCh37Chr 13, 32911658: 32911658
289BRCA2NM_000059.3(BRCA2): c.3599_3600delGT (p.Cys1200Terfs)deletionPathogenicrs80359391GRCh37Chr 13, 32912091: 32912092
290BRCA2NM_000059.3(BRCA2): c.3680_3681delTG (p.Leu1227Glnfs)deletionPathogenicrs80359395GRCh37Chr 13, 32912172: 32912173
291BRCA2NM_000059.3(BRCA2): c.3975_3978dupTGCT (p.Ala1327Cysfs)duplicationLikely pathogenic, Pathogenicrs397515636GRCh37Chr 13, 32912467: 32912470
292BRCA2NM_000059.3(BRCA2): c.4133_4136delCTCA (p.Thr1378Argfs)deletionPathogenicrs80359430GRCh37Chr 13, 32912625: 32912628
293BRCA2NM_000059.3(BRCA2): c.4398_4402delACATT (p.Leu1466Phefs)deletionPathogenicrs80359444GRCh37Chr 13, 32912890: 32912894
294BRCA2NM_000059.3(BRCA2): c.4471_4474delCTGA (p.Leu1491Lysfs)deletionPathogenicrs80359451GRCh37Chr 13, 32912963: 32912966
295BRCA2NM_000059.3(BRCA2): c.4478_4481delAAAG (p.Glu1493Valfs)deletionPathogenicrs80359454GRCh37Chr 13, 32912970: 32912973
296BRCA2NM_000059.3(BRCA2): c.4638dupT (p.Asp1547Terfs)duplicationPathogenicrs397507733GRCh37Chr 13, 32913130: 32913130
297BRCA2NM_000059.3(BRCA2): c.475+1G> Tsingle nucleotide variantLikely pathogenic, Pathogenicrs81002797GRCh37Chr 13, 32900288: 32900288
298BRCA2NM_000059.3(BRCA2): c.4829_4830delTG (p.Val1610Glyfs)deletionPathogenicrs80359468GRCh37Chr 13, 32913321: 32913322
299BRCA2NM_000059.3(BRCA2): c.4889C> G (p.Ser1630Ter)single nucleotide variantPathogenicrs80358711GRCh37Chr 13, 32913381: 32913381
300BRCA2NM_000059.3(BRCA2): c.4947_4948delAA (p.Pro1651Cysfs)deletionPathogenicrs80359474GRCh37Chr 13, 32913439: 32913440
301BRCA2NM_000059.3(BRCA2): c.4965delC (p.Tyr1655Terfs)deletionPathogenicrs80359475GRCh37Chr 13, 32913457: 32913457
302BRCA2NM_000059.3(BRCA2): c.5158dupT (p.Ser1720Phefs)duplicationPathogenicrs80359489GRCh37Chr 13, 32913650: 32913650
303BRCA2NM_000059.3(BRCA2): c.5279C> G (p.Ser1760Ter)single nucleotide variantPathogenicrs80358751GRCh37Chr 13, 32913771: 32913771
304BRCA2NM_000059.3(BRCA2): c.5428G> A (p.Val1810Ile)single nucleotide variantPathogenicrs80358766GRCh37Chr 13, 32913920: 32913920
305BRCA2NM_000059.3(BRCA2): c.5439delT (p.Val1814Terfs)deletionPathogenicrs397507785GRCh37Chr 13, 32913931: 32913931
306BRCA2NM_000059.3(BRCA2): c.5609_5610delTCinsAG (p.Phe1870Ter)indelPathogenicrs276174859GRCh37Chr 13, 32914101: 32914102
307BRCA2NM_000059.3(BRCA2): c.5616_5620delAGTAA (p.Lys1872Asnfs)deletionPathogenicrs80359525GRCh37Chr 13, 32914108: 32914112
308BRCA2NM_000059.3(BRCA2): c.5656C> T (p.Gln1886Ter)single nucleotide variantPathogenicrs80358790GRCh37Chr 13, 32914148: 32914148
309BRCA2NM_000059.3(BRCA2): c.581G> A (p.Trp194Ter)single nucleotide variantPathogenicrs80358809GRCh37Chr 13, 32900700: 32900700
310BRCA2NM_000059.3(BRCA2): c.5857G> T (p.Glu1953Ter)single nucleotide variantPathogenicrs80358814GRCh37Chr 13, 32914349: 32914349
311BRCA2NM_000059.3(BRCA2): c.5864C> A (p.Ser1955Ter)single nucleotide variantPathogenicrs80358815GRCh37Chr 13, 32914356: 32914356
312BRCA2NM_000059.3(BRCA2): c.6124C> T (p.Gln2042Ter)single nucleotide variantPathogenicrs80358851GRCh37Chr 13, 32914616: 32914616
313BRCA2NM_000059.3(BRCA2): c.6164delT (p.Phe2055Serfs)deletionPathogenicrs397507831GRCh37Chr 13, 32914656: 32914656
314BRCA2NM_000059.3(BRCA2): c.6446_6450delTTAAA (p.Ile2149Serfs)deletionPathogenicrs80359593GRCh37Chr 13, 32914938: 32914942
315BRCA2NM_000059.3(BRCA2): c.6490C> T (p.Gln2164Ter)single nucleotide variantPathogenicrs397507860GRCh37Chr 13, 32914982: 32914982
316BRCA2NM_000059.3(BRCA2): c.6531_6534delTCAT (p.Ile2177Metfs)deletionPathogenicrs397507865GRCh37Chr 13, 32915023: 32915026
317BRCA2NM_000059.3(BRCA2): c.6600_6601delTT (p.Ser2201Terfs)deletionPathogenicrs80359607GRCh37Chr 13, 32915092: 32915093
318BRCA2NM_000059.3(BRCA2): c.67+1G> Tsingle nucleotide variantPathogenicrs81002796GRCh37Chr 13, 32890665: 32890665
319BRCA2NM_000059.3(BRCA2): c.67+2T> Csingle nucleotide variantPathogenicrs81002885GRCh37Chr 13, 32890666: 32890666
320BRCA2NM_000059.3(BRCA2): c.6757_6758delCT (p.Leu2253Phefs)deletionPathogenicrs80359623GRCh37Chr 13, 32915249: 32915250
321BRCA2NM_000059.3(BRCA2): c.6761_6762delTT (p.Phe2254Tyrfs)deletionPathogenicrs80359624GRCh37Chr 13, 32915253: 32915254
322BRCA2NM_000059.3(BRCA2): c.7007G> T (p.Arg2336Leu)single nucleotide variantLikely pathogenic, Pathogenicrs28897743GRCh37Chr 13, 32921033: 32921033
323BRCA2NM_000059.3(BRCA2): c.7025_7026delAA (p.Gln2342Argfs)deletionPathogenicrs80359634GRCh37Chr 13, 32929015: 32929016
324BRCA2NM_000059.3(BRCA2): c.7251_7252delCA (p.His2417Glnfs)deletionPathogenicrs397507907GRCh37Chr 13, 32929241: 32929242
325BRCA2NM_000059.3(BRCA2): c.729_732delTGAT (p.Asn243Lysfs)deletionPathogenicrs80359645GRCh37Chr 13, 32905103: 32905106
326BRCA2NM_000059.3(BRCA2): c.7558C> T (p.Arg2520Ter)single nucleotide variantPathogenicrs80358981GRCh37Chr 13, 32930687: 32930687
327BRCA2NM_000059.3(BRCA2): c.7617+1G> Asingle nucleotide variantPathogenicrs397507922GRCh37Chr 13, 32930747: 32930747
328BRCA2NM_000059.3(BRCA2): c.7617+2T> Gsingle nucleotide variantPathogenicrs81002843GRCh37Chr 13, 32930748: 32930748
329BRCA2NM_000059.3(BRCA2): c.772C> T (p.Gln258Ter)single nucleotide variantPathogenicrs80358998GRCh37Chr 13, 32905146: 32905146
330BRCA2NM_000059.3(BRCA2): c.7757G> A (p.Trp2586Ter)single nucleotide variantPathogenicrs80359003GRCh37Chr 13, 32932018: 32932018
331BRCA2NM_000059.3(BRCA2): c.7762delA (p.Ile2588Tyrfs)deletionPathogenicrs80359679GRCh37Chr 13, 32932023: 32932023
332BRCA2NM_000059.3(BRCA2): c.7805+1G> Asingle nucleotide variantLikely pathogenic, Pathogenicrs81002809GRCh37Chr 13, 32932067: 32932067
333BRCA2NM_000059.3(BRCA2): c.7806-2A> Gsingle nucleotide variantLikely pathogenic, Pathogenicrs81002836GRCh37Chr 13, 32936658: 32936658
334BRCA2NM_000059.3(BRCA2): c.7856G> A (p.Trp2619Ter)single nucleotide variantPathogenicrs397507941GRCh37Chr 13, 32936710: 32936710
335BRCA2NM_000059.3(BRCA2): c.7879A> T (p.Ile2627Phe)single nucleotide variantPathogenicrs80359014GRCh37Chr 13, 32936733: 32936733
336BRCA2NM_000059.3(BRCA2): c.8053dupA (p.Thr2685Asnfs)duplicationPathogenicrs397507959GRCh37Chr 13, 32937392: 32937392
337BRCA2NM_000059.3(BRCA2): c.8070_8071dupTT (p.Ser2691Phefs)duplicationPathogenicrs397507962GRCh37Chr 13, 32937409: 32937410
338BRCA2NM_000059.3(BRCA2): c.8167G> C (p.Asp2723His)single nucleotide variantPathogenicrs41293511GRCh37Chr 13, 32937506: 32937506
339BRCA2NM_000059.3(BRCA2): c.8377G> A (p.Gly2793Arg)single nucleotide variantLikely pathogenic, Pathogenicrs80359082GRCh37Chr 13, 32944584: 32944584
340BRCA2NM_000059.3(BRCA2): c.8487+1G> Asingle nucleotide variantPathogenicrs81002798GRCh37Chr 13, 32944695: 32944695
341BRCA2NM_000059.3(BRCA2): c.8489G> A (p.Trp2830Ter)single nucleotide variantPathogenicrs80359101GRCh37Chr 13, 32945094: 32945094
342BRCA2NM_000059.3(BRCA2): c.8575C> T (p.Gln2859Ter)single nucleotide variantPathogenicrs80359115GRCh37Chr 13, 32945180: 32945180
343BRCA2NM_000059.3(BRCA2): c.8594dupT (p.Leu2865Phefs)duplicationPathogenicrs80359721GRCh37Chr 13, 32945199: 32945199
344BRCA2NM_000059.3(BRCA2): c.8673_8674delAA (p.Arg2892Thrfs)deletionPathogenicrs80359724GRCh37Chr 13, 32950847: 32950848
345BRCA2NM_000059.3(BRCA2): c.8770G> T (p.Glu2924Ter)single nucleotide variantPathogenicrs80359133GRCh37Chr 13, 32953469: 32953469
346BRCA2NM_000059.3(BRCA2): c.8878C> T (p.Gln2960Ter)single nucleotide variantPathogenicrs80359140GRCh37Chr 13, 32953577: 32953577
347BRCA2NM_000059.3(BRCA2): c.8970G> A (p.Trp2990Ter)single nucleotide variantPathogenicrs80359149GRCh37Chr 13, 32953903: 32953903
348BRCA2NM_000059.3(BRCA2): c.8988_8990delATAinsTT (p.Leu2996Phefs)indelPathogenicrs397508027GRCh37Chr 13, 32953921: 32953923
349BRCA2NM_000059.3(BRCA2): c.9154C> T (p.Arg3052Trp)single nucleotide variantPathogenicrs45580035GRCh37Chr 13, 32954180: 32954180
350BRCA2NM_000059.3(BRCA2): c.9257-1G> Csingle nucleotide variantLikely pathogenic, Pathogenicrs81002889GRCh37Chr 13, 32968825: 32968825
351BRCA2NM_000059.3(BRCA2): c.9275_9278delATTT (p.Tyr3092Cysfs)deletionPathogenicrs80359754GRCh37Chr 13, 32968844: 32968847
352BRCA2NM_000059.3(BRCA2): c.9285C> G (p.Asp3095Glu)single nucleotide variantLikely pathogenic, Pathogenicrs80359198GRCh37Chr 13, 32968854: 32968854
353BRCA2NM_000059.3(BRCA2): c.9376C> T (p.Gln3126Ter)single nucleotide variantPathogenicrs80359210GRCh37Chr 13, 32968945: 32968945
354BRCA2NM_000059.3(BRCA2): c.9382C> T (p.Arg3128Ter)single nucleotide variantPathogenicrs80359212GRCh37Chr 13, 32968951: 32968951
355BRCA2NM_000059.3(BRCA2): c.9403delC (p.Leu3135Phefs)deletionPathogenicrs80359760GRCh37Chr 13, 32968972: 32968972
356BRCA2NM_000059.3(BRCA2): c.956dupA (p.Asn319Lysfs)duplicationPathogenicrs80359770GRCh37Chr 13, 32906571: 32906571
357BRCA2NM_000059.3(BRCA2): c.9924C> G (p.Tyr3308Ter)single nucleotide variantPathogenicrs4987049GRCh37Chr 13, 32972574: 32972574
358BRCA1NM_007294.3(BRCA1): c.1011dupA (p.Val340Glyfs)duplicationPathogenicrs80357569GRCh37Chr 17, 41246532: 41246532
359BRCA1NM_007294.3(BRCA1): c.112_113delAA (p.Lys38Valfs)deletionPathogenicrs80357949GRCh37Chr 17, 41267764: 41267765
360BRCA1NM_007294.3(BRCA1): c.1188delT (p.Asp396Glufs)deletionPathogenicrs397508845GRCh37Chr 17, 41246360: 41246360
361BRCA1NM_007294.3(BRCA1): c.1204delG (p.Glu402Serfs)deletionPathogenicrs80357859GRCh37Chr 17, 41246344: 41246344
362BRCA1NM_007294.3(BRCA1): c.1387_1390delAAAAinsGAAAG (p.Lys463Glufs)indelPathogenicrs397508866GRCh37Chr 17, 41246158: 41246161
363BRCA1NM_007294.3(BRCA1): c.1439dupA (p.Asn480Lysfs)duplicationPathogenicrs80357505GRCh37Chr 17, 41246109: 41246109
364BRCA1NM_007294.3(BRCA1): c.1551delT (p.Phe517Leufs)deletionPathogenicrs80357630GRCh37Chr 17, 41245997: 41245997
365BRCA1NM_007294.3(BRCA1): c.1673_1674delAA (p.Lys558Argfs)deletionPathogenicrs397508896GRCh37Chr 17, 41245874: 41245875
366BRCA1NM_007294.3(BRCA1): c.1793T> A (p.Leu598Ter)single nucleotide variantPathogenicrs80357118GRCh37Chr 17, 41245755: 41245755
367BRCA1NM_007294.3(BRCA1): c.1874_1877dupTAGT (p.Val627Serfs)duplicationPathogenicrs80357516GRCh37Chr 17, 41245671: 41245674
368BRCA1NM_007294.3(BRCA1): c.1881_1884delCAGT (p.Ser628Glufs)deletionPathogenicrs80357567GRCh37Chr 17, 41245664: 41245667
369BRCA1NM_007294.3(BRCA1): c.1892dupT (p.Ser632Lysfs)duplicationPathogenicrs80357932GRCh37Chr 17, 41245656: 41245656
370BRCA1NM_007294.3(BRCA1): c.191G> A (p.Cys64Tyr)single nucleotide variantPathogenicrs55851803GRCh37Chr 17, 41258494: 41258494
371BRCA1NM_007294.3(BRCA1): c.1961dupA (p.Tyr655Valfs)duplicationPathogenicrs80357853GRCh37Chr 17, 41245587: 41245587
372BRCA1NM_007294.3(BRCA1): c.2019delA (p.Glu673Aspfs)deletionPathogenicrs80357626GRCh37Chr 17, 41245529: 41245529
373BRCA1NM_007294.3(BRCA1): c.2035A> T (p.Lys679Ter)single nucleotide variantPathogenicrs80357082GRCh37Chr 17, 41245513: 41245513
374BRCA1NM_007294.3(BRCA1): c.2110_2111delAA (p.Asn704Cysfs)deletionPathogenicrs80357814GRCh37Chr 17, 41245437: 41245438
375BRCA1NM_007294.3(BRCA1): c.2157dupA (p.Glu720Argfs)duplicationPathogenicrs80357715GRCh37Chr 17, 41245391: 41245391
376BRCA1NM_007294.3(BRCA1): c.2309C> A (p.Ser770Ter)single nucleotide variantPathogenicrs80357063GRCh37Chr 17, 41245239: 41245239
377BRCA1NM_007294.3(BRCA1): c.2338C> T (p.Gln780Ter)single nucleotide variantPathogenicrs80356945GRCh37Chr 17, 41245210: 41245210
378BRCA1NM_007294.3(BRCA1): c.2443delA (p.Ile815Phefs)deletionPathogenicrs80357598GRCh37Chr 17, 41245105: 41245105
379BRCA1NM_007294.3(BRCA1): c.2594delA (p.Lys865Serfs)deletionPathogenicrs80357756GRCh37Chr 17, 41244954: 41244954
380BRCA1NM_007294.3(BRCA1): c.2722G> T (p.Glu908Ter)single nucleotide variantLikely pathogenic, Pathogenicrs80356978GRCh37Chr 17, 41244826: 41244826
381BRCA1NM_007294.3(BRCA1): c.2726dupA (p.Asn909Lysfs)duplicationPathogenicrs80357685GRCh37Chr 17, 41244822: 41244822
382BRCA1NM_007294.3(BRCA1): c.2727_2730delTCAA (p.Asn909Lysfs)deletionPathogenicrs80357605GRCh37Chr 17, 41244818: 41244821
383BRCA1NM_007294.3(BRCA1): c.2766delA (p.Val923Leufs)deletionPathogenicrs80357812GRCh37Chr 17, 41244782: 41244782
384BRCA1NM_007294.3(BRCA1): c.2834_2836delGTAinsC (p.Ser945Thrfs)indelPathogenicrs386134270GRCh37Chr 17, 41244712: 41244714
385BRCA1NM_007294.3(BRCA1): c.2866_2870delTCTCA (p.Ser956Valfs)deletionPathogenicrs80357819GRCh37Chr 17, 41244678: 41244682
386BRCA1NM_007294.3(BRCA1): c.2999delA (p.Glu1000Glyfs)deletionPathogenicrs80357991GRCh37Chr 17, 41244549: 41244549
387BRCA1NM_007294.3(BRCA1): c.302-2delAdeletionPathogenicrs273899695GRCh37Chr 17, 41256280: 41256280
388BRCA1NM_007294.3(BRCA1): c.303T> G (p.Tyr101Ter)single nucleotide variantPathogenicrs80356936GRCh37Chr 17, 41256277: 41256277
389BRCA1NM_007294.3(BRCA1): c.3048_3052dupTGAGA (p.Asn1018Metfs)duplicationPathogenicrs80357856GRCh37Chr 17, 41244496: 41244500
390BRCA1NM_007294.3(BRCA1): c.3084_3094delTAATAACATTA (p.Asn1029Argfs)deletionPathogenicrs80357647GRCh37Chr 17, 41244454: 41244464
391BRCA1NM_007294.3(BRCA1): c.3257T> G (p.Leu1086Ter)single nucleotide variantPathogenicrs80357006GRCh37Chr 17, 41244291: 41244291
392BRCA1NM_007294.3(BRCA1): c.329dupA (p.Glu111Glyfs)duplicationPathogenicrs80357604GRCh37Chr 17, 41256251: 41256251
393BRCA1NM_007294.3(BRCA1): c.3331C> T (p.Gln1111Ter)single nucleotide variantPathogenicrs80357089GRCh37Chr 17, 41244217: 41244217
394BRCA1NM_007294.3(BRCA1): c.3598C> T (p.Gln1200Ter)single nucleotide variantPathogenicrs62625307GRCh37Chr 17, 41243950: 41243950
395BRCA1NM_007294.3(BRCA1): c.3668_3671dupTTCC (p.Cys1225Serfs)duplicationPathogenicrs80357797GRCh37Chr 17, 41243877: 41243880
396BRCA1NM_007294.3(BRCA1): c.3718C> T (p.Gln1240Ter)single nucleotide variantPathogenicrs80356903GRCh37Chr 17, 41243830: 41243830
397BRCA1NM_007294.3(BRCA1): c.3841C> T (p.Gln1281Ter)single nucleotide variantPathogenicrs80356866GRCh37Chr 17, 41243707: 41243707
398BRCA1NM_007294.3(BRCA1): c.390C> A (p.Tyr130Ter)single nucleotide variantPathogenicrs80356888GRCh37Chr 17, 41256190: 41256190
399BRCA1NM_007294.3(BRCA1): c.3916_3917delTT (p.Leu1306Aspfs)deletionPathogenicrs80357678GRCh37Chr 17, 41243631: 41243632
400BRCA1NM_007294.3(BRCA1): c.406dupA (p.Arg136Lysfs)duplicationPathogenicrs80357709GRCh37Chr 17, 41256174: 41256174
401BRCA1NM_007294.3(BRCA1): c.4165_4166delAG (p.Ser1389Terfs)deletionPathogenicrs80357572GRCh37Chr 17, 41242980: 41242981
402BRCA1NM_007294.3(BRCA1): c.4222C> T (p.Gln1408Ter)single nucleotide variantPathogenicrs80356989GRCh37Chr 17, 41234556: 41234556
403BRCA1NM_007294.3(BRCA1): c.4389C> A (p.Tyr1463Ter)single nucleotide variantPathogenicrs80356997GRCh37Chr 17, 41228600: 41228600
404BRCA1NM_007294.3(BRCA1): c.4524G> A (p.Trp1508Ter)single nucleotide variantPathogenicrs80356885GRCh37Chr 17, 41226499: 41226499
405BRCA1NM_007294.3(BRCA1): c.4611_4612insG (p.Gln1538Alafs)insertionPathogenicrs80357915GRCh37Chr 17, 41226411: 41226412
406BRCA1NM_007294.3(BRCA1): c.4612C> T (p.Gln1538Ter)single nucleotide variantPathogenicrs80356992GRCh37Chr 17, 41226411: 41226411
407BRCA1NM_007294.3(BRCA1): c.4675+1G> Asingle nucleotide variantPathogenicrs80358044GRCh37Chr 17, 41226347: 41226347
408BRCA1NM_007294.3(BRCA1): c.4941delC (p.Asn1647Lysfs)deletionPathogenicrs80357905GRCh37Chr 17, 41222990: 41222990
409BRCA1NM_007294.3(BRCA1): c.4986+3G> Csingle nucleotide variantLikely pathogenic, Pathogenicrs80358023GRCh37Chr 17, 41222942: 41222942
410BRCA1NM_007294.3(BRCA1): c.5053A> G (p.Thr1685Ala)single nucleotide variantPathogenicrs80356890GRCh37Chr 17, 41219646: 41219646
411BRCA1NM_007294.3(BRCA1): c.505C> T (p.Gln169Ter)single nucleotide variantPathogenicrs80357133GRCh37Chr 17, 41251834: 41251834
412BRCA1NM_007294.3(BRCA1): c.5080G> T (p.Glu1694Ter)single nucleotide variantPathogenicrs80356896GRCh37Chr 17, 41215963: 41215963
413BRCA1NM_007294.3(BRCA1): c.5095C> T (p.Arg1699Trp)single nucleotide variantPathogenicrs55770810GRCh37Chr 17, 41215948: 41215948
414BRCA1NM_007294.3(BRCA1): c.5109T> G (p.Tyr1703Ter)single nucleotide variantPathogenicrs80356974GRCh37Chr 17, 41215934: 41215934
415BRCA1NM_007294.3(BRCA1): c.5123C> A (p.Ala1708Glu)single nucleotide variantPathogenicrs28897696GRCh37Chr 17, 41215920: 41215920
416BRCA1NM_007294.3(BRCA1): c.5136G> A (p.Trp1712Ter)single nucleotide variantPathogenicrs80357418GRCh37Chr 17, 41215907: 41215907
417BRCA1NM_007294.3(BRCA1): c.5137delG (p.Val1713Terfs)deletionPathogenicrs80357997GRCh37Chr 17, 41215906: 41215906
418BRCA1NM_007294.3(BRCA1): c.514delC (p.Gln172Asnfs)deletionPathogenicrs80357872GRCh37Chr 17, 41251825: 41251825
419BRCA1NM_007294.3(BRCA1): c.5152+1G> Tsingle nucleotide variantPathogenicrs80358094GRCh37Chr 17, 41215890: 41215890
420BRCA1NM_007294.3(BRCA1): c.5165C> T (p.Ser1722Phe)single nucleotide variantLikely pathogenic, Pathogenicrs80357104GRCh37Chr 17, 41215378: 41215378
421BRCA1NM_007294.3(BRCA1): c.5212G> A (p.Gly1738Arg)single nucleotide variantPathogenicrs80356937GRCh37Chr 17, 41209134: 41209134
422BRCA1NM_007294.3(BRCA1): c.5251C> T (p.Arg1751Ter)single nucleotide variantPathogenicrs80357123GRCh37Chr 17, 41209095: 41209095
423BRCA1NM_007294.3(BRCA1): c.5260G> T (p.Glu1754Ter)single nucleotide variantPathogenicrs80357432GRCh37Chr 17, 41209086: 41209086
424BRCA1NM_007294.3(BRCA1): c.5319dupC (p.Asn1774Glnfs)duplicationPathogenicrs80357823GRCh37Chr 17, 41203093: 41203093
425BRCA1NM_007294.3(BRCA1): c.5353C> T (p.Gln1785Ter)single nucleotide variantPathogenicrs80356969GRCh37Chr 17, 41201191: 41201191
426BRCA1NM_007294.3(BRCA1): c.5444G> A (p.Trp1815Ter)single nucleotide variantPathogenicrs80356962GRCh37Chr 17, 41199683: 41199683
427BRCA1NM_007294.3(BRCA1): c.5497G> A (p.Val1833Met)single nucleotide variantLikely pathogenic, Pathogenicrs80357268GRCh37Chr 17, 41197790: 41197790
428BRCA1NM_007294.3(BRCA1): c.5503C> T (p.Arg1835Ter)single nucleotide variantPathogenicrs41293465GRCh37Chr 17, 41197784: 41197784
429BRCA1NM_007294.3(BRCA1): c.5521delA (p.Ser1841Valfs)deletionPathogenicrs80357721GRCh37Chr 17, 41197766: 41197766
430BRCA1NM_007294.3(BRCA1): c.5558dupA (p.Tyr1853Terfs)duplicationPathogenicrs80357629GRCh37Chr 17, 41197729: 41197729
431BRCA1NM_007294.3(BRCA1): c.685delT (p.Ser229Leufs)deletionPathogenicrs80357824GRCh37Chr 17, 41246863: 41246863
432BRCA1NM_007294.3(BRCA1): c.70_80delTGTCCCATCTG (p.Cys24Serfs)deletionPathogenicrs80357696GRCh37Chr 17, 41276034: 41276044
433BRCA1NM_007294.3(BRCA1): c.815_824dupAGCCATGTGG (p.Thr276Alafs)duplicationPathogenicrs387906563GRCh37Chr 17, 41246724: 41246733
434BRCA2NM_000059.3(BRCA2): c.3075_3076delGAinsTT (p.Lys1025_Lys1026delinsAsnTer)indelPathogenicrs587779362GRCh37Chr 13, 32911567: 32911568
435BRCA1NM_007294.3(BRCA1): c.4358-?_5277+?deldeletionPathogenicGRCh37Chr 17, 41209069: 41228631
436BRCA1NM_007294.3(BRCA1): c.4987-?_5074+?deldeletionPathogenicGRCh37Chr 17, 41219625: 41219712
437BRCA2NM_000059.3(BRCA2): c.9252_9255delAACAinsTT (p.Lys3084Asnfs)indelPathogenicrs276174918GRCh37Chr 13, 32954278: 32954281
438BRCA2NM_000059.3(BRCA2): c.9808delG (p.Ala3270Profs)deletionLikely pathogenic, Pathogenicrs398122622GRCh37Chr 13, 32972458: 32972458
439BRCA1NM_007294.3(BRCA1): c.2902_2903insTC (p.Pro968Leufs)insertionPathogenicrs398122670GRCh37Chr 17, 41244645: 41244646
440BRCA1NM_007294.3(BRCA1): c.2940delA (p.Pro981Hisfs)deletionPathogenicrs80357876GRCh37Chr 17, 41244608: 41244608
441BRCA1NM_007294.3(BRCA1): c.3672delC (p.Cys1225Alafs)deletionPathogenicrs398122677GRCh37Chr 17, 41243876: 41243876
442BRCA1NM_007294.3(BRCA1): c.3761_3762insTT (p.Lys1254Asnfs)insertionPathogenicrs80357928GRCh37Chr 17, 41243786: 41243787
443BRCA1NM_007294.3(BRCA1): c.670+1G> Tsingle nucleotide variantLikely pathogenic, Pathogenicrs398122706GRCh37Chr 17, 41247862: 41247862
444BRCA1NM_007294.3(BRCA1): c.81-1G> Asingle nucleotide variantLikely pathogenic, Pathogenicrs80358018GRCh37Chr 17, 41267797: 41267797
445BRCA2NM_000059.3(BRCA2): c.8839G> T (p.Glu2947Ter)single nucleotide variantPathogenicrs398122715GRCh37Chr 13, 32953538: 32953538
446BRCA2NM_000059.3(BRCA2): c.2330dupA (p.Asp777Glufs)duplicationPathogenicrs80359328GRCh37Chr 13, 32910822: 32910822
447BRCA2NM_000059.3(BRCA2): c.2808delA (p.Lys936Asnfs)deletionPathogenicrs398122753GRCh37Chr 13, 32911300: 32911300
448BRCA2NM_000059.3(BRCA2): c.4552delG (p.Glu1518Asnfs)deletionPathogenicrs398122783GRCh37Chr 13, 32913044: 32913044
449BRCA2NM_000059.3(BRCA2): c.6275_6276delTT (p.Leu2092Profs)deletionPathogenicrs11571658GRCh37Chr 13, 32914767: 32914768
450BRCA2NM_000059.3(BRCA2): c.6591_6592delTG (p.Glu2198Asnfs)deletionPathogenicrs80359605GRCh37Chr 13, 32915083: 32915084
451BRCA2NM_000059.3(BRCA2): c.5722_5723delCT (p.Leu1908Argfs)deletionPathogenicrs80359530GRCh37Chr 13, 32914214: 32914215
452BRCA2NM_000059.3(BRCA2): c.2808_2811del4 (p.Ala938Profs)deletionPathogenicrs80359351GRCh37Chr 13, 32911300: 32911303
453BRCA2NM_000059.3(BRCA2): c.5946delT (p.Ser1982Argfs)deletionPathogenicrs80359550GRCh37Chr 13, 32914438: 32914438
454BRCA2NM_000059.3(BRCA2): c.771_775delTCAAA (p.Asn257Lysfs)deletionPathogenicrs80359671GRCh37Chr 13, 32905145: 32905149
455BRCA2NM_000059.3(BRCA2): c.8537_8538delAG (p.Glu2846Glyfs)deletionPathogenicrs80359714GRCh37Chr 13, 32945142: 32945143
456BRCA2NM_000059.3(BRCA2): c.658_659delGT (p.Val220Ilefs)deletionPathogenicrs80359604GRCh37Chr 13, 32903606: 32903607
457BRCA2NM_000059.3(BRCA2): c.631+1G> Asingle nucleotide variantPathogenicrs81002897GRCh37Chr 13, 32900751: 32900751
458BRCA2NM_000059.3(BRCA2): c.631+2T> Gsingle nucleotide variantPathogenicrs81002899GRCh37Chr 13, 32900752: 32900752
459BRCA2NM_000059.3(BRCA2): c.3779delT (p.Leu1260Tyrfs)deletionPathogenicrs431825312GRCh37Chr 13, 32912271: 32912271
460BRCA2NM_000059.3(BRCA2): c.4976_4977insG (p.Tyr1661Leufs)insertionPathogenicrs431825325GRCh37Chr 13, 32913468: 32913469
461BRCA2NM_000059.3(BRCA2): c.7985C> A (p.Thr2662Lys)single nucleotide variantPathogenicrs431825362GRCh37Chr 13, 32937324: 32937324
462BRCA2NM_000059.3(BRCA2): c.8463delT (p.Ile2822Phefs)deletionPathogenicrs431825365GRCh37Chr 13, 32944670: 32944670
463BRCA1NM_007294.3(BRCA1): c.4986+5G> Asingle nucleotide variantLikely pathogenic, Pathogenicrs397509211GRCh37Chr 17, 41222940: 41222940

Expression for genes affiliated with Hereditary Breast Ovarian Cancer

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

Pathways for genes affiliated with Hereditary Breast Ovarian Cancer

About this section

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

(show all 30)
idSuper pathwaysScoreTop Affiliating Genes
110.0CHEK2, TP53
210.0MRE11A, NBN
39.6MRE11A, NBN, RAD50
4
Show member pathways
9.5BRCA1, CHEK2, PTEN, TP53
59.5BRCA1, MRE11A, NBN, RAD50
69.2BARD1, BRCA1, CHEK2, NBN, TP53
7
Show member pathways
9.2BRCA1, MRE11A, NBN, RAD50, TP53
8
Show member pathways
8.7BARD1, BRCA1, CHEK2, MRE11A, NBN, RAD50
9
Show member pathways
8.7BARD1, BRCA1, CHEK2, MRE11A, PTEN, RAD50
10
Show member pathways
8.6BRCA1, CHEK2, MRE11A, NBN, RAD50, RAD51
118.6BRCA2, MLH1, PTEN, RAD51, TP53
128.6BARD1, BRCA1, MRE11A, NBN, RAD50, RAD51
13
Show member pathways
8.4CHEK2, MLH1, PTEN, STK11, TP53
14
Show member pathways
8.3BRCA1, CHEK2, MRE11A, NBN, PTEN, RAD50
15
Show member pathways
8.3BARD1, BRCA1, BRIP1, CHEK2, MRE11A, NBN
168.2BRCA2, MRE11A, NBN, RAD50, RAD51, RAD51C
17
Show member pathways
8.1BARD1, BRCA1, BRCA2, CHEK2, MRE11A, NBN
18
Show member pathways
8.1BARD1, BRCA1, BRCA2, CHEK2, MRE11A, NBN
19
Show member pathways
8.1BRCA1, BRCA2, BRIP1, MLH1, PALB2, RAD51
207.9BRCA1, BRCA2, CHEK2, MRE11A, PTEN, RAD50
21
Show member pathways
7.9BRCA1, BRCA2, MLH1, MRE11A, NBN, RAD50
227.6BARD1, BRCA1, BRCA2, CHEK2, MRE11A, PTEN
237.4BRCA1, BRIP1, CHEK2, MLH1, MRE11A, NBN
24
Show member pathways
7.2BARD1, BRCA1, BRCA2, BRIP1, MRE11A, NBN
25
Show member pathways
7.2BARD1, BRCA1, BRCA2, BRIP1, MRE11A, NBN
26
Show member pathways
6.9BARD1, BRCA1, BRCA2, BRIP1, CHEK2, MLH1
27
Show member pathways
6.7BARD1, BRCA1, BRCA2, BRIP1, CHEK2, MLH1
28
Show member pathways
6.5BARD1, BRCA1, BRIP1, CHEK2, MLH1, MRE11A
29
Show member pathways
6.5BARD1, BRCA1, BRIP1, CHEK2, MLH1, MRE11A
30
Show member pathways
5.8BARD1, BRCA1, BRCA2, BRIP1, CHEK2, MLH1

GO Terms for genes affiliated with Hereditary Breast Ovarian Cancer

About this section

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

(show all 16)
idNameGO IDScoreTop Affiliating Genes
1BRCA1-A complexGO:007053110.7BARD1, BRCA1
2BRCA1-BARD1 complexGO:003143610.7BARD1, BRCA1
3Mre11 complexGO:003087010.4MRE11A, NBN, RAD50
4Rad51B-Rad51C-Rad51D-XRCC2 complexGO:003306310.4RAD51C, RAD51D, XRCC2
5chromosome, telomeric regionGO:000078110.2CHEK2, MRE11A, RAD51D
6site of double-strand breakGO:003586110.0MRE11A, NBN, RAD50, RAD51
7chiasmaGO:00057129.9MLH1, PMS1
8MutLalpha complexGO:00323899.9MLH1, PMS1
9nuclear chromatinGO:00007909.8MRE11A, RAD50, RAD51, TP53
10condensed chromosomeGO:00007939.8BRCA1, MLH1, RAD51
11replication forkGO:00056579.6NBN, RAD51C, RAD51D, TP53, XRCC2
12PML bodyGO:00166059.5CHEK2, MRE11A, NBN, PTEN, RAD51, TP53
13nuclear chromosome, telomeric regionGO:00007849.4BRCA2, MRE11A, NBN, RAD50, RAD51, RAD51D
14condensed nuclear chromosomeGO:00007948.9BRCA1, MLH1, MRE11A, RAD50, RAD51, RAD51C
15nucleusGO:00056345.5BARD1, BRCA1, BRCA2, BRIP1, CHEK2, MLH1
16nucleoplasmGO:00056544.7BARD1, BRCA1, BRCA2, BRIP1, CHEK2, MLH1

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

(show all 49)
idNameGO IDScoreTop Affiliating Genes
1chordate embryonic developmentGO:004300910.7BRCA1, BRCA2
2inner cell mass cell proliferationGO:000183310.7BRCA2, PALB2
3regulation of mitotic recombinationGO:000001910.6MRE11A, RAD50
4protein K6-linked ubiquitinationGO:008502010.6BARD1, BRCA1
5DNA damage response, signal transduction by p53 class mediatorGO:003033010.6NBN, TP53
6mitotic G2 DNA damage checkpointGO:000709510.6MRE11A, NBN
7mitotic recombination-dependent replication fork processingGO:199042610.6BRCA2, RAD51
8negative regulation of telomere cappingGO:190435410.5NBN, RAD50
9replicative senescenceGO:009039910.5CHEK2, TP53
10DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediatorGO:000697810.5BRCA1, BRCA2, TP53
11chromosome breakageGO:003105210.5BRCA1, BRCA2, PALB2
12meiotic DNA recombinase assemblyGO:000070710.5RAD51D, XRCC2
13response to nutrientGO:000758410.3BRCA1, BRCA2, PTEN
14DNA recombinase assemblyGO:000073010.3RAD51, RAD51C
15chromosome organizationGO:005127610.3BRCA2, MRE11A, RAD51D
16positive regulation of protein autophosphorylationGO:003195410.3MRE11A, NBN, RAD50
17nucleotide-excision repairGO:000628910.2BRCA2, RAD51D, TP53
18DNA damage checkpointGO:000007710.1BRIP1, CHEK2, NBN
19telomeric 3 overhang formationGO:003186010.1MRE11A, NBN, RAD50
20multicellular organism growthGO:003526410.0BRCA2, PALB2, XRCC2
21chromosome organization involved in meiotic cell cycleGO:007019210.0RAD50, RAD51, RAD51C
22isotype switchingGO:004519010.0MLH1, NBN
23telomere maintenanceGO:000072310.0NBN, RAD50, RAD51D
24positive regulation of telomere maintenanceGO:00322069.9MRE11A, NBN, RAD50
25response to gamma radiationGO:00103329.8BRCA2, CHEK2, TP53, XRCC2
26response to X-rayGO:00101659.8BRCA2, RAD51, TP53, XRCC2
27DNA recombinationGO:00063109.8MRE11A, RAD50, RAD51, RAD51C
28telomere maintenance via recombinationGO:00007229.7BRCA2, RAD50, RAD51, RAD51C
29positive regulation of kinase activityGO:00336749.6MRE11A, NBN, RAD50
30mitotic recombinationGO:00063129.6RAD51, RAD51C, RAD51D, XRCC2
31strand invasionGO:00421489.6RAD51, RAD51C, RAD51D, XRCC2
32cell cycle arrestGO:00070509.6BARD1, NBN, STK11, TP53
33intrinsic apoptotic signaling pathway in response to DNA damageGO:00086309.5BRCA1, BRCA2, CHEK2, MLH1
34DNA duplex unwindingGO:00325089.5BRIP1, MRE11A, NBN, RAD50
35DNA double-strand break processingGO:00007299.4BARD1, BRCA1, MRE11A, NBN, RAD50
36negative regulation of apoptotic processGO:00430669.2BARD1, MRE11A, PALB2, PTEN, TP53
37meiotic nuclear divisionGO:00071269.2MLH1, RAD51, XRCC2
38double-strand break repairGO:00063029.1BRCA1, BRCA2, BRIP1, CHEK2, MRE11A, NBN
39response to ionizing radiationGO:00102129.0BRCA1, RAD51C, RAD51D, STK11, XRCC2
40double-strand break repair via nonhomologous end joiningGO:00063038.8BARD1, BRCA1, MLH1, MRE11A, NBN, RAD50
41cell proliferationGO:00082838.7BRCA2, IGFBP4, MRE11A, NBN, PTEN, TP53
42DNA replicationGO:00062608.5BARD1, BRCA1, BRIP1, MRE11A, NBN, RAD50
43double-strand break repair via homologous recombinationGO:00007248.4BRCA1, BRCA2, MRE11A, NBN, PALB2, RAD50
44DNA repairGO:00062818.3MLH1, MRE11A, RAD50, RAD51, RAD51C, RAD51D
45reciprocal meiotic recombinationGO:00071318.3MLH1, MRE11A, RAD50, RAD51, RAD51C, RAD51D
46regulation of signal transduction by p53 class mediatorGO:19017968.0BARD1, BRCA1, BRIP1, CHEK2, MRE11A, NBN
47strand displacementGO:00007327.5BARD1, BRCA1, BRCA2, BRIP1, MRE11A, NBN
48DNA synthesis involved in DNA repairGO:00007317.5BARD1, BRCA1, BRCA2, BRIP1, MRE11A, NBN
49cellular response to DNA damage stimulusGO:00069746.8BARD1, BRCA1, BRCA2, CHEK2, MLH1, MRE11A

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

(show all 12)
idNameGO IDScoreTop Affiliating Genes
1single-stranded DNA endodeoxyribonuclease activityGO:000001410.5MRE11A, RAD50
2damaged DNA bindingGO:000368410.4BRCA1, NBN, TP53
3DNA-dependent ATPase activityGO:000809410.2RAD51C, RAD51D, XRCC2
4ATP-dependent DNA helicase activityGO:00040039.9BRIP1, MRE11A, NBN, RAD50
5recombinase activityGO:00001509.8RAD51, RAD51C, RAD51D, XRCC2
6four-way junction DNA bindingGO:00004009.8RAD51, RAD51C, RAD51D, XRCC2
7endodeoxyribonuclease activityGO:00045209.6MRE11A, RAD51, RAD51D, XRCC2
8double-stranded DNA bindingGO:00036909.3MRE11A, RAD51, RAD51C, RAD51D, TP53, XRCC2
9single-stranded DNA bindingGO:00036978.3BRCA2, MLH1, PMS1, RAD51, RAD51C, RAD51D
10DNA bindingGO:00036778.0BRCA1, BRIP1, MRE11A, PALB2, PMS1, RAD50
11ATP bindingGO:00055246.5BRIP1, CHEK2, MLH1, PMS1, RAD50, RAD51
12protein bindingGO:00055154.7BARD1, BRCA1, BRCA2, BRIP1, CHEK2, MLH1

Sources for Hereditary Breast Ovarian Cancer

About this section
2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
25GTR
26HGMD
27HMDB
28ICD10
29ICD10 via Orphanet
30ICD9CM
31IUPHAR
32KEGG
35MedGen
37MeSH
38MESH via Orphanet
39MGI
42NCI
43NCIt
44NDF-RT
47NINDS
48Novoseek
50OMIM
51OMIM via Orphanet
55PubMed
56QIAGEN
61SNOMED-CT via Orphanet
65Tumor Gene Family of Databases
66UMLS
67UMLS via Orphanet