MCID: BRC016
MIFTS: 29

Brca1 and Brca2 Hereditary Breast and Ovarian Cancer malady

Genetic diseases (common), Cancer diseases categories

Aliases & Classifications for Brca1 and Brca2 Hereditary Breast and Ovarian Cancer

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Aliases & Descriptions for Brca1 and Brca2 Hereditary Breast and Ovarian Cancer:

Name: Brca1 and Brca2 Hereditary Breast and Ovarian Cancer 21 22 24
 
Hboc 21 22


Classifications:



Summaries for Brca1 and Brca2 Hereditary Breast and Ovarian Cancer

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MalaCards based summary: Brca1 and Brca2 Hereditary Breast and Ovarian Cancer, also known as hboc, is related to brca2 hereditary breast and ovarian cancer syndrome and female reproductive system disease. An important gene associated with Brca1 and Brca2 Hereditary Breast and Ovarian Cancer is BRCA2 (Breast Cancer 2, Early Onset), and among its related pathways are DNA damage_Role of Brca1 and Brca2 in DNA repair and Homologous recombination. Affiliated tissues include breast, and related mouse phenotypes are hematopoietic system and homeostasis/metabolism.

GeneReviews summary for brca1

Related Diseases for Brca1 and Brca2 Hereditary Breast and Ovarian Cancer

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Diseases related to Brca1 and Brca2 Hereditary Breast and Ovarian Cancer via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50)    (show all 99)
idRelated DiseaseScoreTop Affiliating Genes
1brca2 hereditary breast and ovarian cancer syndrome30.3BRCA1, BRCA2, PALB2
2female reproductive system disease29.9BRCA1, BRCA2, PIK3CA
3ovarian cancer10.5
4hereditary breast ovarian cancer10.2
5brca1 hereditary breast and ovarian cancer syndrome10.2
6congenital pulmonary veins atresia or stenosis10.2BRCA1, BRCA2
7bronchiolitis obliterans10.2BRCA1, BRCA2
8extrahepatic bile duct small cell adenocarcinoma10.2BRCA1, BRCA2
9animal phobia10.2BRCA1, BRCA2
10nutritional deficiency disease10.2BRCA1, BRCA2
11chronic atticoantral disease10.2BRCA1, BRCA2
12microcystic variant infiltrating bladder urothelial carcinoma10.2BRCA1, BRCA2
13chest wall lymphoma10.2BRCA1, BRCA2
14pathological gambling10.2BRCA1, BRCA2
15methemoglobinemia10.2BRCA1, BRCA2
16fallopian tube adenofibroma10.2BRCA1, BRCA2
17breast squamous cell carcinoma10.2BRCA1, BRCA2
18peritoneal cystic mesothelioma10.1BRCA1, BRCA2
19bile duct adenocarcinoma10.1BRCA1, BRCA2
20fallopian tube carcinosarcoma10.1BRCA1, BRCA2
21ciliopathy10.1BRCA1, BRCA2
22mutiple parosteal osteochondromatous proliferations10.1BRCA1, BRCA2
23precursor lymphoblastic lymphoma/leukemia10.1BRCA1, BRCA2
24polyvesicular vitelline pattern ovarian yolk sac tumor10.1BRCA1, BRCA2
25infancy electroclinical syndrome10.1BRCA1, BRCA2
26breast cyst10.1BRCA1, BRCA2
27fibular collateral ligament bursitis10.0BRCA1, BRCA2
28dieulafoy lesion10.0BRCA1, BRCA2
29myocardial infarction10.0
30peripheral arterial occlusive disease 110.0
31stroke, ischemic10.0
32greenberg skeletal dysplasia10.0
33coronary heart disease 210.0
34coronary artery disease10.0
35coronary heart disease 510.0
36adult syndrome10.0
37short syndrome10.0
38coronary heart disease 610.0
39myocardial infarction 210.0
40coronary heart disease 410.0
41li-fraumeni syndrome10.0
42coronary heart disease 310.0
43peripheral vascular disease10.0
44angina pectoris10.0
45deficiency anemia10.0
46acute myocardial infarction10.0
47atherosclerosis10.0
48critical limb ischemia10.0
49ischemic heart disease10.0
50single ventricular heart10.0

Graphical network of the top 20 diseases related to Brca1 and Brca2 Hereditary Breast and Ovarian Cancer:



Diseases related to brca1 and brca2 hereditary breast and ovarian cancer

Symptoms for Brca1 and Brca2 Hereditary Breast and Ovarian Cancer

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Drugs & Therapeutics for Brca1 and Brca2 Hereditary Breast and Ovarian Cancer

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Drugs for Brca1 and Brca2 Hereditary Breast and Ovarian Cancer (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 14)
idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1
Letrozoleapproved, investigationalPhase 3326112809-51-53902
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
CarboplatinapprovedPhase 2, Phase 1181241575-94-410339178, 498142, 38904, 38904, 498142
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+)
3
TamoxifenapprovedPhase 234110540-29-12733526
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
Soltamox
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
4
Docetaxelapproved, investigational, Approved May 1996Phase 21792114977-28-5148124, 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
Docefrez
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
5
tremelimumabPhase 1, Phase 245
Synonyms:
206
CP675
 
CP675206
Ticilimumab
tremelimumab
6
Zoledronic acidPhase 2276118072-93-868740
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
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
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
Zoledronate
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)
7
Citric AcidnutraceuticalPhase 278477-92-9311
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
8CitrateNutraceuticalPhase 2784
9
PaclitaxelapprovedPhase 1250533069-62-436314
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
nchembio.188-comp1
nchembio.2007.34-comp9
nchembio.215-comp9
nchembio853-comp6
paclitaxel
weekly paclitaxel
10
Vinorelbineapproved, investigationalPhase 133971486-22-160780, 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
11
CisplatinapprovedPhase 1243715663-27-184093, 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
Cisplatin
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
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)
12
VinblastineapprovedPhase 1218865-21-413342, 241903, 13342, 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
13
Pancrelipaseapproved83953608-75-6
Synonyms:
1,4-alpha-D- glucan glucanohydrolase
Creon
PA
Pancreatic alpha-amylase precursor
Pancreaze
 
Pancrelipase
Pertzye
Polocaine-mpf
Ultresa
Viokace
Zenpep
14pancreatin839

Interventional clinical trials:

(show all 32)
idNameStatusNCT IDPhase
1Standard Genetic Counseling With or Without a Decision Guide in Improving Communication Between Mothers Undergoing BRCA1/2 Testing and Their Minor-Age ChildrenRecruitingNCT00685256Phase 3
2Letrozole in Preventing Breast Cancer in Postmenopausal Women With a BRCA1 or BRCA2 MutationActive, not recruitingNCT00673335Phase 3
3Methods in Education for Breast Cancer GeneticsActive, not recruitingNCT00001806Phase 3
4Search Allelic Imbalance of Expression of BRCA Genes in Hereditary Risk of Breast and/or Ovarian CancerCompletedNCT01333748Phase 2
5Trial of Inquiry Based Stress Reduction (IBSR) Program for BRCA1/2 Mutation CarriersCompletedNCT01367639Phase 2
6Carboplatin or Docetaxel in Treating Women With Metastatic Genetic Breast CancerCompletedNCT00321633Phase 2
7Arzoxifene or Tamoxifen in Preventing Breast Cancer in Premenopausal Women at High Risk for Breast CancerCompletedNCT00253539Phase 2
8PARP-inhibition and CTLA-4 Blockade in BRCA-deficient Ovarian CancerRecruitingNCT02571725Phase 1, Phase 2
9Zoledronate or Observation in Maintaining Bone Mineral Density in Patients Who Are Undergoing Surgery to Remove Both OvariesActive, not recruitingNCT00305695Phase 2
10Family Gene ToolkitSuspendedNCT02154633Phase 2
11Veliparib, Carboplatin, and Paclitaxel in Treating Patients With Advanced Solid CancerCompletedNCT00535119Phase 1
12Veliparib in Treating Patients With Malignant Solid Tumors That Did Not Respond to Previous TherapyActive, not recruitingNCT00892736Phase 1
13Veliparib, Cisplatin, and Vinorelbine Ditartrate in Treating Patients With Recurrent and/or Metastatic Breast CancerActive, not recruitingNCT01104259Phase 1
14A Qualitative Exploration of the Impact of Positive BRCA1/2 Mutation Status on the Lives of Young WomenCompletedNCT00858078
15Outcomes of Education and Counseling for BRCA1 TestingCompletedNCT00001468
16Removal of the Ovaries/Fallopian Tubes and CA-125 Screening to Reduce the Risk of Ovarian Cancer in Women at Increased Genetic RiskCompletedNCT00043472
17Adaptation to Living With a BRCA1/2 MutationCompletedNCT01866865
18Cancer Genetics Hereditary Cancer Panel TestingRecruitingNCT02324062
19Thymidine Kinase 1 in Risk Assessment for Hereditary Breast /Ovarian CancerRecruitingNCT00855998
20Triple Negative Breast Cancer and Germline Hereditary Breast and Ovarian Cancer Mutation Carrier RegistryRecruitingNCT02302742
21Specimen and Data Study for Ovarian Cancer Early Detection and PreventionRecruitingNCT00005095
22Pancreatic Cancer GeneticsRecruitingNCT01102569
23Culturally-Informed Counseling in Latinas at High Risk for Hereditary Breast or Ovarian CancerRecruitingNCT01230346
24Clinical, Genetic, Behavioral, Laboratory and Epidemiologic Characterization of Individuals and Families at High Risk of Breast/Ovarian CancerRecruitingNCT00040222
25Analysis of Tumors From Patients With Inherited Cancers Having Had Two Surgeries (Primary + Recurrent, or 2 Separate Types of Cancer)RecruitingNCT01167842
26C-PATROL - Non-interventional Study (NIS) to Collect Clinical and Patient Reported Outcome Data in an Olaparib Treated BRCAm+ PSR Ovarian Cancer PopulationRecruitingNCT02503436
27Short Non-coding RNA Biomarkers of Predisposition to Ovarian CancerRecruitingNCT01187602
28Genetic Counseling for Breast Cancer Survivors (GC for BC)Active, not recruitingNCT02451735
29Decision Support Following Genetic Testing for Breast-Ovarian Cancer SusceptibilityEnrolling by invitationNCT02133703
30Outcomes After Perforator Flap Reconstruction for Breast Reconstruction and/or Lymphedema TreatmentEnrolling by invitationNCT01273909
31Targeted Next-generation Sequencing Panel for Identification of Germline Mutations in Early Onset Cancers With Sporadic or Hereditary PresentationNot yet recruitingNCT02664389
32Family Communication of Hereditary Breast and Ovarian Cancer Risk Among African AmericansTerminatedNCT01374685

Search NIH Clinical Center for Brca1 and Brca2 Hereditary Breast and Ovarian Cancer

Genetic Tests for Brca1 and Brca2 Hereditary Breast and Ovarian Cancer

About this section

Genetic tests related to Brca1 and Brca2 Hereditary Breast and Ovarian Cancer:

id Genetic test Affiliating Genes
1 Brca1 and Brca2 Hereditary Breast and Ovarian Cancer22 24 BRCA2

Anatomical Context for Brca1 and Brca2 Hereditary Breast and Ovarian Cancer

About this section

MalaCards organs/tissues related to Brca1 and Brca2 Hereditary Breast and Ovarian Cancer:

33
Breast

Animal Models for Brca1 and Brca2 Hereditary Breast and Ovarian Cancer or affiliated genes

About this section

MGI Mouse Phenotypes related to Brca1 and Brca2 Hereditary Breast and Ovarian Cancer:

38 (show all 12)
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053978.1BRCA1, BRCA2, NQO2, PPM1D, RAD54L
2MP:00053767.6BRCA1, BRCA2, NQO2, PIK3CA, PPM1D, RAD54L
3MP:00053877.6BRCA1, BRCA2, NQO2, PIK3CA, PPM1D, RAD54L
4MP:00053847.5BRCA1, BRCA2, PALB2, PIK3CA, PPM1D, RAD54L
5MP:00107687.5BRCA1, BRCA2, PALB2, PIK3CA, PPM1D, RAD54L
6MP:00107717.4BRCA1, BRCA2, NQO2, PALB2, PIK3CA, PPM1D
7MP:00020067.4BRCA1, BRCA2, NQO2, PALB2, PIK3CA, PPM1D

Publications for Brca1 and Brca2 Hereditary Breast and Ovarian Cancer

About this section

Articles related to Brca1 and Brca2 Hereditary Breast and Ovarian Cancer:

idTitleAuthorsYear
1
BRCA1 and BRCA2 Hereditary Breast and Ovarian Cancer (20301425)
1993

Variations for Brca1 and Brca2 Hereditary Breast and Ovarian Cancer

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Clinvar genetic disease variations for Brca1 and Brca2 Hereditary Breast and Ovarian Cancer:

5 (show all 246)
id Gene Variation Type Significance SNP ID Assembly Location
1BRCA2NM_000059.3(BRCA2): c.7977-1G> Tsingle nucleotide variantPathogenicrs81002874GRCh37Chr 13, 32937315: 32937315
2BRCA2NM_000059.3(BRCA2): c.9672dupA (p.Tyr3225Ilefs)duplicationPathogenicrs80359773GRCh38Chr 13, 32398185: 32398185
3BRCA2NM_000059.3: c.1-?_67+?deldeletionPathogenicGRCh37Chr 13, 32890470: 32890470
4BRCA2NM_000059.3(BRCA2): c.3777delT (p.Leu1260Tyrfs)deletionPathogenicrs587780651GRCh37Chr 13, 32912269: 32912269
5BRCA2NM_000059.3(BRCA2): c.484delG (p.Ser163Valfs)deletionPathogenicrs587780653GRCh37Chr 13, 32900387: 32900387
6BRCA2NM_000059.3(BRCA2): c.6562dupA (p.Asn2189Lysfs)duplicationPathogenicrs587780659GRCh38Chr 13, 32340917: 32340917
7BRCA1NM_007294.3(BRCA1): c.2506delG (p.Glu836Lysfs)deletionPathogenicrs587780798GRCh37Chr 17, 41245042: 41245042
8BRCA1NM_007294.3(BRCA1): c.3874delT (p.Ser1292Leufs)deletionPathogenicrs587780802GRCh37Chr 17, 41243674: 41243674
9BRCA1NM_007294.3(BRCA1): c.81-2A> Csingle nucleotide variantPathogenicrs397509326GRCh37Chr 17, 41267798: 41267798
10BRCA1NM_007294.3(BRCA1): c.512dupT (p.Gln172Thrfs)duplicationPathogenicrs587781487GRCh37Chr 17, 41251827: 41251827
11BRCA2NM_000059.3(BRCA2): c.7877G> A (p.Trp2626Ter)single nucleotide variantPathogenicrs587781506GRCh37Chr 13, 32936731: 32936731
12BRCA1NM_007294.3(BRCA1): c.181T> G (p.Cys61Gly)single nucleotide variantPathogenicrs28897672GRCh37Chr 17, 41258504: 41258504
13BRCA1NM_007294.3(BRCA1): c.68_69delAG (p.Glu23Valfs)deletionPathogenic, risk factorrs386833395GRCh37Chr 17, 41276047: 41276048
14BRCA1NM_007294.3(BRCA1): c.1175_1214del40 (p.Leu392Glnfs)deletionLikely pathogenic, Pathogenicrs80359874GRCh37Chr 17, 41246334: 41246373
15BRCA1NM_007294.3(BRCA1): c.2681_2682delAA (p.Lys894Thrfs)deletionPathogenicrs80357971GRCh37Chr 17, 41244866: 41244867
16BRCA1NM_007294.3(BRCA1): c.3005delA (p.Asn1002Thrfs)deletionPathogenicrs80357601GRCh38Chr 17, 43092526: 43092526
17BRCA1NM_007294.3(BRCA1): c.3607C> T (p.Arg1203Ter)single nucleotide variantPathogenicrs62625308GRCh37Chr 17, 41243941: 41243941
18BRCA1NM_007294.3(BRCA1): c.3748G> T (p.Glu1250Ter)single nucleotide variantPathogenicrs28897686GRCh37Chr 17, 41243800: 41243800
19BRCA1NM_007294.3(BRCA1): c.3756_3759delGTCT (p.Ser1253Argfs)deletionLikely pathogenic, Pathogenicrs80357868GRCh37Chr 17, 41243789: 41243792
20BRCA1NM_007294.3(BRCA1): c.4065_4068delTCAA (p.Asn1355Lysfs)deletionLikely pathogenic, Pathogenicrs80357508GRCh37Chr 17, 41243480: 41243483
21BRCA1NM_007294.3(BRCA1): c.4327C> T (p.Arg1443Ter)single nucleotide variantPathogenicrs41293455GRCh37Chr 17, 41234451: 41234451
22BRCA1NM_007294.3(BRCA1): c.5266dupC (p.Gln1756Profs)duplicationPathogenic, risk factorrs80357906GRCh37Chr 17, 41209083: 41209083
23BRCA1NM_007294.3(BRCA1): c.3481_3491delGAAGATACTAG (p.Glu1161Phefs)deletionPathogenicrs80357877GRCh37Chr 17, 41244057: 41244067
24BRCA1NM_007294.3(BRCA1): c.211A> G (p.Arg71Gly)single nucleotide variantLikely pathogenic, Pathogenicrs80357382GRCh37Chr 17, 41258474: 41258474
25BRCA1NM_007294.3(BRCA1): c.5324T> G (p.Met1775Arg)single nucleotide variantPathogenicrs41293463GRCh37Chr 17, 41203088: 41203088
26BRCA2NM_000059.3(BRCA2): c.3347_3348insTA (p.Leu1118Tyrfs)insertionPathogenicrs730882134GRCh37Chr 13, 32911839: 32911840
27BRCA1NM_007294.3(BRCA1): c.5278-?_5467+?deldeletionPathogenic
28BRCA2NM_000059.3(BRCA2): c.5642_5645delAATC (p.Ser1882Lysfs)deletionPathogenicrs786204172GRCh37Chr 13, 32914134: 32914137
29BRCA1NM_007294.3(BRCA1): c.(?_-232)_80+?deldeletionPathogenicGRCh37Chr 17, 41276034: 41277500
30BRCA2NM_000059.3(BRCA2): c.4691dupC (p.Thr1566Aspfs)duplicationPathogenicrs786204209GRCh37Chr 13, 32913183: 32913183
31BRCA2NM_000059.3(BRCA2): c.517-?_631+?deldeletionPathogenic
32BRCA1NM_007294.3(BRCA1): c.(?_-232)_134+?deldeletionPathogenicGRCh37Chr 17, 41267743: 41277500
33BRCA1NM_007294.3(BRCA1): c.1240dupG (p.Asp414Glyfs)duplicationPathogenicrs786204260GRCh37Chr 17, 41246308: 41246308
34BRCA2NM_000059.3(BRCA2): c.774_775delAA (p.Glu260Serfs)deletionLikely pathogenic, Pathogenicrs786204273GRCh38Chr 13, 32331011: 32331012
35BRCA2NM_000059.3(BRCA2): c.3590dupA (p.Asn1198Lysfs)duplicationPathogenicrs797044986GRCh37Chr 13, 32912082: 32912082
36BRCA2NM_000059.3(BRCA2): c.5595_5596delATinsC (p.Phe1866Leufs)indelPathogenicrs797044987GRCh37Chr 13, 32914087: 32914088
37BRCA2NM_000059.3(BRCA2): c.1A> G (p.Met1Val)single nucleotide variantPathogenicGRCh37Chr 13, 32890598: 32890598
38BRCA2NM_000059.3(BRCA2): c.4933_4936delAAAG (p.Glu1646Glnfs)deletionPathogenicGRCh37Chr 13, 32913425: 32913428
39BRCA2NM_000059.3(BRCA2): c.5438delT (p.Val1814Terfs)deletionPathogenicGRCh38Chr 13, 32339793: 32339793
40BRCA2NM_000059.3(BRCA2): c.6022A> T (p.Lys2008Ter)single nucleotide variantPathogenicGRCh38Chr 13, 32340377: 32340377
41BRCA2NM_000059.3(BRCA2): c.7872T> G (p.Tyr2624Ter)single nucleotide variantPathogenicGRCh37Chr 13, 32936726: 32936726
42BRCA2NM_000059.3(BRCA2): c.8143A> T (p.Lys2715Ter)single nucleotide variantPathogenicGRCh37Chr 13, 32937482: 32937482
43BRCA2NM_000059.3(BRCA2): c.8420C> A (p.Ser2807Ter)single nucleotide variantPathogenicrs55763607GRCh38Chr 13, 32370490: 32370490
44BRCA1NM_007294.3(BRCA1): c.(?_-1)_5074+?deldeletionPathogenicGRCh37Chr 17, 41219625: 41276114
45BRCA1NM_007294.3(BRCA1): c.2043dupT (p.Asn682Terfs)duplicationPathogenicGRCh37Chr 17, 41245505: 41245505
46BRCA1NM_007294.3(BRCA1): c.4474G> T (p.Gly1492Ter)single nucleotide variantPathogenicGRCh38Chr 17, 43076498: 43076498
47BRCA1NM_007294.3(BRCA1): c.490delA (p.Thr164Leufs)deletionPathogenicGRCh37Chr 17, 41251849: 41251849
48BRCA1NM_007294.3(BRCA1): c.5278-?_*(1_?)deldeletionPathogenicGRCh38Chr 17, 43045677: 43051117
49BRCA2NM_000059.3(BRCA2): c.1570_1571delAT (p.Met524Aspfs)deletionPathogenicGRCh38Chr 13, 32333048: 32333049
50BRCA2NM_000059.3(BRCA2): c.4176delT (p.Ala1393Argfs)deletionPathogenicGRCh37Chr 13, 32912668: 32912668
51BRCA2NM_000059.3(BRCA2): c.4515_4525delCTTCCAGGGAC (p.Phe1506Thrfs)deletionPathogenicGRCh38Chr 13, 32338870: 32338880
52BRCA2NM_000059.3(BRCA2): c.4587dupG (p.Lys1530Glufs)duplicationPathogenicGRCh38Chr 13, 32338942: 32338942
53BRCA2NM_000059.3(BRCA2): c.7946delC (p.Pro2649Glnfs)deletionPathogenicGRCh37Chr 13, 32936800: 32936800
54BRCA1NM_007294.3(BRCA1): c.1444_1447delATTA (p.Ile482Terfs)deletionPathogenicrs80357801GRCh37Chr 17, 41246101: 41246104
55BRCA1NM_007294.3(BRCA1): c.1687C> T (p.Gln563Ter)single nucleotide variantPathogenicrs80356898GRCh37Chr 17, 41245861: 41245861
56BRCA1NM_007294.3(BRCA1): c.1961delA (p.Lys654Serfs)deletionPathogenicrs80357522GRCh37Chr 17, 41245587: 41245587
57BRCA1NM_007294.3(BRCA1): c.2071delA (p.Arg691Aspfs)deletionPathogenicrs80357688GRCh37Chr 17, 41245477: 41245477
58BRCA1NM_007294.3(BRCA1): c.213-11T> Gsingle nucleotide variantPathogenicrs80358061GRCh37Chr 17, 41256984: 41256984
59BRCA1NM_007294.3(BRCA1): c.213-12A> Gsingle nucleotide variantPathogenicrs80358163GRCh37Chr 17, 41256985: 41256985
60BRCA1NM_007294.3(BRCA1): c.2138C> G (p.Ser713Ter)single nucleotide variantPathogenicrs80357233GRCh37Chr 17, 41245410: 41245410
61BRCA1NM_007294.3(BRCA1): c.2411_2412delAG (p.Gln804Leufs)deletionPathogenicrs80357664GRCh37Chr 17, 41245136: 41245137
62BRCA1NM_007294.3(BRCA1): c.2457delC (p.Asp821Ilefs)deletionPathogenicrs80357669GRCh37Chr 17, 41245091: 41245091
63BRCA1NM_007294.3(BRCA1): c.2475delC (p.Asp825Glufs)deletionPathogenicrs80357970GRCh37Chr 17, 41245073: 41245073
64BRCA1NM_007294.3(BRCA1): c.2635G> T (p.Glu879Ter)single nucleotide variantPathogenicrs80357251GRCh37Chr 17, 41244913: 41244913
65BRCA1NM_007294.3(BRCA1): c.2679_2682delGAAA (p.Lys893Asnfs)deletionLikely pathogenic, Pathogenicrs80357596GRCh37Chr 17, 41244866: 41244869
66BRCA1NM_007294.3(BRCA1): c.2806_2809delGATA (p.Asp936Serfs)deletionPathogenicrs80357832GRCh37Chr 17, 41244739: 41244742
67BRCA1NM_007294.3(BRCA1): c.2934T> G (p.Tyr978Ter)single nucleotide variantPathogenicrs80357115GRCh37Chr 17, 41244614: 41244614
68BRCA1NM_007294.3(BRCA1): c.3331_3334delCAAG (p.Gln1111Asnfs)deletionPathogenicrs80357701GRCh37Chr 17, 41244214: 41244217
69BRCA1NM_007294.3(BRCA1): c.3485delA (p.Asp1162Valfs)deletionPathogenicrs80357509GRCh37Chr 17, 41244063: 41244063
70BRCA1NM_007294.3(BRCA1): c.3627dupA (p.Glu1210Argfs)duplicationPathogenicrs80357729GRCh37Chr 17, 41243921: 41243921
71BRCA1NM_007294.3(BRCA1): c.3700_3704delGTAAA (p.Val1234Glnfs)deletionPathogenicrs80357609GRCh37Chr 17, 41243844: 41243848
72BRCA1NM_007294.3(BRCA1): c.3770_3771delAG (p.Glu1257Glyfs)deletionPathogenicrs80357579GRCh37Chr 17, 41243777: 41243778
73BRCA1NM_007294.3(BRCA1): c.3858_3861delTGAG (p.Ser1286Argfs)deletionPathogenicrs80357842GRCh37Chr 17, 41243687: 41243690
74BRCA1NM_007294.3(BRCA1): c.4035delA (p.Glu1346Lysfs)deletionPathogenicrs80357711GRCh37Chr 17, 41243513: 41243513
75BRCA1NM_007294.3(BRCA1): c.4096+1G> Asingle nucleotide variantPathogenicrs80358178GRCh37Chr 17, 41243451: 41243451
76BRCA1NM_007294.3(BRCA1): c.4096+3A> Gsingle nucleotide variantLikely pathogenic, Pathogenicrs80358015GRCh37Chr 17, 41243449: 41243449
77BRCA1NM_007294.3(BRCA1): c.427G> T (p.Glu143Ter)single nucleotide variantPathogenicrs80356991GRCh37Chr 17, 41256153: 41256153
78BRCA1NM_007294.3(BRCA1): c.4357+1G> Asingle nucleotide variantPathogenicrs80358027GRCh37Chr 17, 41234420: 41234420
79BRCA1NM_007294.3(BRCA1): c.4391_4393delCTAinsTT (p.Pro1464Leufs)indelPathogenicrs273900730GRCh37Chr 17, 41228596: 41228598
80BRCA1NM_007294.3(BRCA1): c.4484G> T (p.Arg1495Met)single nucleotide variantPathogenicrs80357389GRCh37Chr 17, 41228505: 41228505
81BRCA1NM_007294.3(BRCA1): c.4689C> G (p.Tyr1563Ter)single nucleotide variantPathogenicrs80357433GRCh37Chr 17, 41223242: 41223242
82BRCA1NM_007294.3(BRCA1): c.4964_4982del19 (p.Ser1655Tyrfs)deletionLikely pathogenic, Pathogenicrs80359876GRCh37Chr 17, 41222949: 41222967
83BRCA1NM_007294.3(BRCA1): c.4986+6T> Csingle nucleotide variantLikely pathogenic, Pathogenicrs80358086GRCh37Chr 17, 41222939: 41222939
84BRCA1NM_007294.3(BRCA1): c.5030_5033delCTAA (p.Thr1677Ilefs)deletionPathogenicrs80357580GRCh37Chr 17, 41219666: 41219669
85BRCA1NM_007294.3(BRCA1): c.5096G> A (p.Arg1699Gln)single nucleotide variantLikely pathogenic, Pathogenicrs41293459GRCh37Chr 17, 41215947: 41215947
86BRCA1NM_007294.3(BRCA1): c.5177_5180delGAAA (p.Arg1726Lysfs)deletionPathogenicrs80357867GRCh37Chr 17, 41215363: 41215366
87BRCA1NM_007294.3(BRCA1): c.5207T> C (p.Val1736Ala)single nucleotide variantLikely pathogenic, Pathogenicrs45553935GRCh37Chr 17, 41209139: 41209139
88BRCA1NM_007294.3(BRCA1): c.5259delA (p.Glu1754Asnfs)deletionPathogenicrs80357925GRCh37Chr 17, 41209087: 41209087
89BRCA1NM_007294.3(BRCA1): c.5335delC (p.Gln1779Asnfs)deletionPathogenicrs80357590GRCh37Chr 17, 41201209: 41201209
90BRCA1NM_007294.3(BRCA1): c.5387C> A (p.Ser1796Ter)single nucleotide variantPathogenicrs80357055GRCh37Chr 17, 41201157: 41201157
91BRCA1NM_007294.3(BRCA1): c.547+2T> Asingle nucleotide variantPathogenicrs80358047GRCh37Chr 17, 41251790: 41251790
92BRCA1NM_007294.3(BRCA1): c.594-2A> Csingle nucleotide variantLikely pathogenic, Pathogenicrs80358033GRCh37Chr 17, 41247941: 41247941
93BRCA1NM_007294.3(BRCA1): c.676delT (p.Cys226Valfs)deletionPathogenicrs80357941GRCh37Chr 17, 41246872: 41246872
94BRCA1NM_007294.3(BRCA1): c.798_799delTT (p.Ser267Lysfs)deletionLikely pathogenic, Pathogenicrs80357724GRCh37Chr 17, 41246749: 41246750
95BRCA1NM_007294.3(BRCA1): c.962G> A (p.Trp321Ter)single nucleotide variantPathogenicrs80357292GRCh37Chr 17, 41246586: 41246586
96BRCA2NM_000059.3(BRCA2): c.1257delT (p.Cys419Trpfs)deletionPathogenicrs80359272GRCh37Chr 13, 32906872: 32906872
97BRCA2NM_000059.3(BRCA2): c.1796_1800delCTTAT (p.Ser599Terfs)deletionPathogenicrs276174813GRCh37Chr 13, 32907411: 32907415
98BRCA2NM_000059.3(BRCA2): c.1813dupA (p.Ile605Asnfs)duplicationPathogenicrs80359308GRCh37Chr 13, 32907428: 32907428
99BRCA2NM_000059.3(BRCA2): c.1929delG (p.Arg645Glufs)deletionPathogenicrs80359316GRCh37Chr 13, 32910421: 32910421
100BRCA2NM_000059.3(BRCA2): c.3109C> T (p.Gln1037Ter)single nucleotide variantPathogenicrs80358557GRCh37Chr 13, 32911601: 32911601
101BRCA2NM_000059.3(BRCA2): c.3170_3174delAGAAA (p.Lys1057Thrfs)deletionPathogenicrs80359373GRCh37Chr 13, 32911662: 32911666
102BRCA2NM_000059.3(BRCA2): c.3545_3546delTT (p.Phe1182Terfs)deletionLikely pathogenic, Pathogenicrs80359388GRCh37Chr 13, 32912037: 32912038
103BRCA2NM_000059.3(BRCA2): c.3717delA (p.Lys1239Asnfs)deletionPathogenicrs80359401GRCh37Chr 13, 32912209: 32912209
104BRCA2NM_000059.3(BRCA2): c.3847_3848delGT (p.Val1283Lysfs)deletionPathogenicrs80359405GRCh37Chr 13, 32912339: 32912340
105BRCA2NM_000059.3(BRCA2): c.3922G> T (p.Glu1308Ter)single nucleotide variantPathogenicrs80358638GRCh37Chr 13, 32912414: 32912414
106BRCA2NM_000059.3(BRCA2): c.4058_4062delAAACG (p.Glu1353Glyfs)deletionPathogenicrs397507322GRCh37Chr 13, 32912550: 32912554
107BRCA2NM_000059.3(BRCA2): c.4284dupT (p.Gln1429Serfs)duplicationLikely pathogenic, Pathogenicrs80359440GRCh37Chr 13, 32912776: 32912776
108BRCA2NM_000059.3(BRCA2): c.4415_4418delAGAA (p.Lys1472Thrfs)deletionPathogenicrs397507333GRCh37Chr 13, 32912907: 32912910
109BRCA2NM_000059.3(BRCA2): c.4472_4475delTGAA (p.Leu1491Glnfs)deletionPathogenicrs80359452GRCh37Chr 13, 32912964: 32912967
110BRCA2NM_000059.3(BRCA2): c.4631delA (p.Asn1544Thrfs)deletionPathogenicrs80359461GRCh37Chr 13, 32913123: 32913123
111BRCA2NM_000059.3(BRCA2): c.4638delT (p.Phe1546Leufs)deletionPathogenicrs80359462GRCh37Chr 13, 32913130: 32913130
112BRCA2NM_000059.3(BRCA2): c.4876_4877delAA (p.Asn1626Serfs)deletionPathogenicrs80359470GRCh37Chr 13, 32913368: 32913369
113BRCA2NM_000059.3(BRCA2): c.4965C> G (p.Tyr1655Ter)single nucleotide variantPathogenicrs80358721GRCh37Chr 13, 32913457: 32913457
114BRCA2NM_000059.3(BRCA2): c.5073dupA (p.Trp1692Metfs)duplicationPathogenicrs80359480GRCh37Chr 13, 32913565: 32913565
115BRCA2NM_000059.3(BRCA2): c.5350_5351delAA (p.Asn1784Hisfs)deletionPathogenicrs80359507GRCh37Chr 13, 32913842: 32913843
116BRCA2NM_000059.3(BRCA2): c.5351dupA (p.Asn1784Lysfs)duplicationPathogenicrs80359508GRCh37Chr 13, 32913843: 32913843
117BRCA2NM_000059.3(BRCA2): c.5576_5579delTTAA (p.Ile1859Lysfs)deletionPathogenicrs80359521GRCh37Chr 13, 32914068: 32914071
118BRCA2NM_000059.3(BRCA2): c.5645C> A (p.Ser1882Ter)single nucleotide variantPathogenicrs80358785GRCh37Chr 13, 32914137: 32914137
119BRCA2NM_000059.3(BRCA2): c.5655C> A (p.Cys1885Ter)single nucleotide variantPathogenicrs80358789GRCh37Chr 13, 32914147: 32914147
120BRCA2NM_000059.3(BRCA2): c.5682C> G (p.Tyr1894Ter)single nucleotide variantPathogenicrs41293497GRCh37Chr 13, 32914174: 32914174
121BRCA2NM_000059.3(BRCA2): c.5782G> T (p.Glu1928Ter)single nucleotide variantPathogenicrs56253082GRCh37Chr 13, 32914274: 32914274
122BRCA2NM_000059.3(BRCA2): c.5799_5802delCCAA (p.Asn1933Lysfs)deletionPathogenicrs80359538GRCh37Chr 13, 32914291: 32914294
123BRCA2NM_000059.3(BRCA2): c.5828delC (p.Ser1943Leufs)deletionPathogenicrs80359541GRCh37Chr 13, 32914320: 32914320
124BRCA2NM_000059.3(BRCA2): c.6405_6409delCTTAA (p.Asn2135Lysfs)deletionPathogenicrs80359584GRCh37Chr 13, 32914897: 32914901
125BRCA2NM_000059.3(BRCA2): c.6468_6469delTC (p.Gln2157Ilefs)deletionPathogenicrs80359596GRCh37Chr 13, 32914960: 32914961
126BRCA2NM_000059.3(BRCA2): c.7007G> A (p.Arg2336His)single nucleotide variantLikely pathogenic, Pathogenicrs28897743GRCh37Chr 13, 32921033: 32921033
127BRCA2NM_000059.3(BRCA2): c.7069_7070delCT (p.Leu2357Valfs)deletionPathogenicrs80359636GRCh37Chr 13, 32929059: 32929060
128BRCA2NM_000059.3(BRCA2): c.755_758delACAG (p.Asp252Valfs)deletionPathogenicrs80359659GRCh37Chr 13, 32905129: 32905132
129BRCA2NM_000059.3(BRCA2): c.7618-1G> Asingle nucleotide variantPathogenicrs397507389GRCh37Chr 13, 32931878: 32931878
130BRCA2NM_000059.3(BRCA2): c.7977-1G> Csingle nucleotide variantPathogenicrs81002874GRCh37Chr 13, 32937315: 32937315
131BRCA2NM_000059.3(BRCA2): c.8297delC (p.Thr2766Asnfs)deletionPathogenicrs80359705GRCh37Chr 13, 32937636: 32937636
132BRCA2NM_000059.3(BRCA2): c.9004G> A (p.Glu3002Lys)single nucleotide variantLikely pathogenic, Pathogenicrs80359152GRCh37Chr 13, 32953937: 32953937
133BRCA2NM_000059.3(BRCA2): c.9097dupA (p.Thr3033Asnfs)duplicationPathogenicrs397507419GRCh37Chr 13, 32954030: 32954030
134BRCA2NM_000059.3(BRCA2): c.9117G> A (p.Pro3039=)single nucleotide variantPathogenicrs28897756GRCh37Chr 13, 32954050: 32954050
135BRCA2NM_000059.3(BRCA2): c.9253dupA (p.Thr3085Asnfs)duplicationLikely pathogenic, Pathogenicrs80359752GRCh37Chr 13, 32954279: 32954279
136BRCA2NM_000059.3(BRCA2): c.9294C> G (p.Tyr3098Ter)single nucleotide variantPathogenicrs80359200GRCh37Chr 13, 32968863: 32968863
137BRCA2NM_000059.3(BRCA2): c.5482_5486delAAATT (p.Lys1828Valfs)deletionPathogenicrs80359516GRCh37Chr 13, 32913974: 32913978
138BRCA2NM_000059.3(BRCA2): c.1189_1190insTTAG (p.Gln397Leufs)insertionPathogenicrs397515635GRCh37Chr 13, 32906804: 32906805
139BRCA2NM_000059.3(BRCA2): c.1389_1390delAG (p.Val464Glyfs)deletionPathogenicrs80359283GRCh37Chr 13, 32907004: 32907005
140BRCA2NM_000059.3(BRCA2): c.1411G> T (p.Glu471Ter)single nucleotide variantPathogenicrs80358428GRCh37Chr 13, 32907026: 32907026
141BRCA2NM_000059.3(BRCA2): c.145G> T (p.Glu49Ter)single nucleotide variantLikely pathogenic, Pathogenicrs80358435GRCh37Chr 13, 32893291: 32893291
142BRCA2NM_000059.3(BRCA2): c.1763_1766delATAA (p.Asn588Serfs)deletionPathogenicrs80359303GRCh37Chr 13, 32907378: 32907381
143BRCA2NM_000059.3(BRCA2): c.1773_1776delTTAT (p.Ile591Metfs)deletionPathogenicrs80359305GRCh37Chr 13, 32907388: 32907391
144BRCA2NM_000059.3(BRCA2): c.1855C> T (p.Gln619Ter)single nucleotide variantPathogenicrs80358476GRCh37Chr 13, 32907470: 32907470
145BRCA2NM_000059.3(BRCA2): c.250C> T (p.Gln84Ter)single nucleotide variantPathogenicrs80358515GRCh37Chr 13, 32893396: 32893396
146BRCA2NM_000059.3(BRCA2): c.2812_2815delGCAA (p.Ala938Profs)deletionPathogenicrs80359354GRCh37Chr 13, 32911304: 32911307
147BRCA2NM_000059.3(BRCA2): c.2836_2837delGA (p.Asp946Phefs)deletionPathogenicrs80359357GRCh37Chr 13, 32911328: 32911329
148BRCA2NM_000059.3(BRCA2): c.2957dupA (p.Asn986Lysfs)duplicationPathogenicrs80359365GRCh37Chr 13, 32911449: 32911449
149BRCA2NM_000059.3(BRCA2): c.316+5G> Asingle nucleotide variantPathogenicrs81002840GRCh37Chr 13, 32893467: 32893467
150BRCA2NM_000059.3(BRCA2): c.3166C> T (p.Gln1056Ter)single nucleotide variantPathogenicrs79728106GRCh37Chr 13, 32911658: 32911658
151BRCA2NM_000059.3(BRCA2): c.3599_3600delGT (p.Cys1200Terfs)deletionPathogenicrs80359392GRCh37Chr 13, 32912091: 32912092
152BRCA2NM_000059.3(BRCA2): c.3680_3681delTG (p.Leu1227Glnfs)deletionPathogenicrs80359395GRCh37Chr 13, 32912172: 32912173
153BRCA2NM_000059.3(BRCA2): c.4398_4402delACATT (p.Leu1466Phefs)deletionPathogenicrs80359444GRCh37Chr 13, 32912890: 32912894
154BRCA2NM_000059.3(BRCA2): c.4471_4474delCTGA (p.Leu1491Lysfs)deletionPathogenicrs80359451GRCh37Chr 13, 32912963: 32912966
155BRCA2NM_000059.3(BRCA2): c.4478_4481delAAAG (p.Glu1493Valfs)deletionLikely pathogenic, Pathogenicrs80359455GRCh37Chr 13, 32912970: 32912973
156BRCA2NM_000059.3(BRCA2): c.475+1G> Tsingle nucleotide variantLikely pathogenic, Pathogenicrs81002797GRCh37Chr 13, 32900288: 32900288
157BRCA2NM_000059.3(BRCA2): c.4889C> G (p.Ser1630Ter)single nucleotide variantPathogenicrs80358711GRCh37Chr 13, 32913381: 32913381
158BRCA2NM_000059.3(BRCA2): c.4965delC (p.Tyr1655Terfs)deletionPathogenicrs80359475GRCh37Chr 13, 32913457: 32913457
159BRCA2NM_000059.3(BRCA2): c.5158dupT (p.Ser1720Phefs)duplicationPathogenicrs80359489GRCh37Chr 13, 32913650: 32913650
160BRCA2NM_000059.3(BRCA2): c.5616_5620delAGTAA (p.Lys1872Asnfs)deletionPathogenicrs80359525GRCh37Chr 13, 32914108: 32914112
161BRCA2NM_000059.3(BRCA2): c.5656C> T (p.Gln1886Ter)single nucleotide variantPathogenicrs80358790GRCh37Chr 13, 32914148: 32914148
162BRCA2NM_000059.3(BRCA2): c.581G> A (p.Trp194Ter)single nucleotide variantPathogenicrs80358809GRCh37Chr 13, 32900700: 32900700
163BRCA2NM_000059.3(BRCA2): c.5857G> T (p.Glu1953Ter)single nucleotide variantPathogenicrs80358814GRCh37Chr 13, 32914349: 32914349
164BRCA2NM_000059.3(BRCA2): c.5864C> A (p.Ser1955Ter)single nucleotide variantLikely pathogenic, Pathogenicrs80358815GRCh37Chr 13, 32914356: 32914356
165BRCA2NM_000059.3(BRCA2): c.6124C> T (p.Gln2042Ter)single nucleotide variantPathogenicrs80358851GRCh37Chr 13, 32914616: 32914616
166BRCA2NM_000059.3(BRCA2): c.6446_6450delTTAAA (p.Ile2149Serfs)deletionPathogenicrs80359593GRCh37Chr 13, 32914938: 32914942
167BRCA2NM_000059.3(BRCA2): c.67+2T> Csingle nucleotide variantPathogenicrs81002885GRCh37Chr 13, 32890666: 32890666
168BRCA2NM_000059.3(BRCA2): c.7251_7252delCA (p.His2417Glnfs)deletionPathogenicrs397507907GRCh37Chr 13, 32929241: 32929242
169BRCA2NM_000059.3(BRCA2): c.729_732delTGAT (p.Asn243Lysfs)deletionPathogenicrs80359645GRCh37Chr 13, 32905103: 32905106
170BRCA2NM_000059.3(BRCA2): c.7617+1G> Asingle nucleotide variantPathogenicrs397507922GRCh37Chr 13, 32930747: 32930747
171BRCA2NM_000059.3(BRCA2): c.7617+2T> Gsingle nucleotide variantPathogenicrs81002843GRCh37Chr 13, 32930748: 32930748
172BRCA2NM_000059.3(BRCA2): c.772C> T (p.Gln258Ter)single nucleotide variantPathogenicrs80358998GRCh37Chr 13, 32905146: 32905146
173BRCA2NM_000059.3(BRCA2): c.7762delA (p.Ile2588Tyrfs)deletionPathogenicrs80359679GRCh37Chr 13, 32932023: 32932023
174BRCA2NM_000059.3(BRCA2): c.7856G> A (p.Trp2619Ter)single nucleotide variantPathogenicrs397507941GRCh37Chr 13, 32936710: 32936710
175BRCA2NM_000059.3(BRCA2): c.8070_8071dupTT (p.Ser2691Phefs)duplicationPathogenicrs397507962GRCh37Chr 13, 32937409: 32937410
176BRCA2NM_000059.3(BRCA2): c.8167G> C (p.Asp2723His)single nucleotide variantPathogenicrs41293511GRCh37Chr 13, 32937506: 32937506
177BRCA2NM_000059.3(BRCA2): c.8377G> A (p.Gly2793Arg)single nucleotide variantLikely pathogenic, Pathogenicrs80359082GRCh37Chr 13, 32944584: 32944584
178BRCA2NM_000059.3(BRCA2): c.8575C> T (p.Gln2859Ter)single nucleotide variantPathogenicrs80359115GRCh37Chr 13, 32945180: 32945180
179BRCA2NM_000059.3(BRCA2): c.8770G> T (p.Glu2924Ter)single nucleotide variantPathogenicrs80359133GRCh37Chr 13, 32953469: 32953469
180BRCA2NM_000059.3(BRCA2): c.9154C> T (p.Arg3052Trp)single nucleotide variantPathogenicrs45580035GRCh37Chr 13, 32954180: 32954180
181BRCA2NM_000059.3(BRCA2): c.9275_9278delATTT (p.Tyr3092Cysfs)deletionPathogenicrs80359754GRCh37Chr 13, 32968844: 32968847
182BRCA2NM_000059.3(BRCA2): c.9376C> T (p.Gln3126Ter)single nucleotide variantPathogenicrs80359210GRCh37Chr 13, 32968945: 32968945
183BRCA2NM_000059.3(BRCA2): c.9382C> T (p.Arg3128Ter)single nucleotide variantPathogenicrs80359212GRCh37Chr 13, 32968951: 32968951
184BRCA2NM_000059.3(BRCA2): c.9924C> G (p.Tyr3308Ter)single nucleotide variantLikely pathogenic, Pathogenicrs4987049GRCh37Chr 13, 32972574: 32972574
185BRCA1NM_007294.3(BRCA1): c.1011dupA (p.Val340Glyfs)duplicationPathogenicrs80357569GRCh37Chr 17, 41246532: 41246532
186BRCA1NM_007294.3(BRCA1): c.1204delG (p.Glu402Serfs)deletionPathogenicrs80357859GRCh37Chr 17, 41246344: 41246344
187BRCA1NM_007294.3(BRCA1): c.1439dupA (p.Asn480Lysfs)duplicationPathogenicrs80357505GRCh37Chr 17, 41246109: 41246109
188BRCA1NM_007294.3(BRCA1): c.1551delT (p.Phe517Leufs)deletionPathogenicrs80357630GRCh37Chr 17, 41245997: 41245997
189BRCA1NM_007294.3(BRCA1): c.1874_1877dupTAGT (p.Val627Serfs)duplicationPathogenicrs80357516GRCh37Chr 17, 41245671: 41245674
190BRCA1NM_007294.3(BRCA1): c.1881_1884delCAGT (p.Ser628Glufs)deletionPathogenicrs80357567GRCh37Chr 17, 41245664: 41245667
191BRCA1NM_007294.3(BRCA1): c.2035A> T (p.Lys679Ter)single nucleotide variantPathogenicrs80357082GRCh37Chr 17, 41245513: 41245513
192BRCA1NM_007294.3(BRCA1): c.2110_2111delAA (p.Asn704Cysfs)deletionPathogenicrs80357814GRCh37Chr 17, 41245437: 41245438
193BRCA1NM_007294.3(BRCA1): c.2157dupA (p.Glu720Argfs)duplicationPathogenicrs80357715GRCh37Chr 17, 41245391: 41245391
194BRCA1NM_007294.3(BRCA1): c.2338C> T (p.Gln780Ter)single nucleotide variantPathogenicrs80356945GRCh37Chr 17, 41245210: 41245210
195BRCA1NM_007294.3(BRCA1): c.2443delA (p.Ile815Phefs)deletionPathogenicrs80357598GRCh37Chr 17, 41245105: 41245105
196BRCA1NM_007294.3(BRCA1): c.2722G> T (p.Glu908Ter)single nucleotide variantPathogenicrs80356978GRCh37Chr 17, 41244826: 41244826
197BRCA1NM_007294.3(BRCA1): c.2726dupA (p.Asn909Lysfs)duplicationPathogenicrs80357685GRCh37Chr 17, 41244822: 41244822
198BRCA1NM_007294.3(BRCA1): c.2727_2730delTCAA (p.Asn909Lysfs)deletionPathogenicrs80357605GRCh37Chr 17, 41244818: 41244821
199BRCA1NM_007294.3(BRCA1): c.2834_2836delGTAinsC (p.Ser945Thrfs)indelPathogenicrs386134270GRCh37Chr 17, 41244712: 41244714
200BRCA1NM_007294.3(BRCA1): c.2836_2837delAT (p.Ile946Glnfs)deletionPathogenicrs397509016GRCh37Chr 17, 41244711: 41244712
201BRCA1NM_007294.3(BRCA1): c.2866_2870delTCTCA (p.Ser956Valfs)deletionPathogenicrs80357819GRCh37Chr 17, 41244678: 41244682
202BRCA1NM_007294.3(BRCA1): c.2999delA (p.Glu1000Glyfs)deletionPathogenicrs80357991GRCh37Chr 17, 41244549: 41244549
203BRCA1NM_007294.3(BRCA1): c.302-2delAdeletionPathogenicrs273899695GRCh37Chr 17, 41256280: 41256280
204BRCA1NM_007294.3(BRCA1): c.3048_3052dupTGAGA (p.Asn1018Metfs)duplicationPathogenicrs80357856GRCh37Chr 17, 41244496: 41244500
205BRCA1NM_007294.3(BRCA1): c.329dupA (p.Glu111Glyfs)duplicationPathogenicrs80357604GRCh37Chr 17, 41256251: 41256251
206BRCA1NM_007294.3(BRCA1): c.3598C> T (p.Gln1200Ter)single nucleotide variantPathogenicrs62625307GRCh37Chr 17, 41243950: 41243950
207BRCA1NM_007294.3(BRCA1): c.3668_3671dupTTCC (p.Cys1225Serfs)duplicationPathogenicrs80357797GRCh37Chr 17, 41243877: 41243880
208BRCA1NM_007294.3(BRCA1): c.3841C> T (p.Gln1281Ter)single nucleotide variantPathogenicrs80356866GRCh37Chr 17, 41243707: 41243707
209BRCA1NM_007294.3(BRCA1): c.390C> A (p.Tyr130Ter)single nucleotide variantPathogenicrs80356888GRCh37Chr 17, 41256190: 41256190
210BRCA1NM_007294.3(BRCA1): c.4165_4166delAG (p.Ser1389Terfs)deletionPathogenicrs80357572GRCh37Chr 17, 41242980: 41242981
211BRCA1NM_007294.3(BRCA1): c.4611_4612insG (p.Gln1538Alafs)insertionPathogenicrs80357915GRCh37Chr 17, 41226411: 41226412
212BRCA1NM_007294.3(BRCA1): c.4612C> T (p.Gln1538Ter)single nucleotide variantPathogenicrs80356992GRCh37Chr 17, 41226411: 41226411
213BRCA1NM_007294.3(BRCA1): c.4986+3G> Csingle nucleotide variantPathogenicrs80358023GRCh37Chr 17, 41222942: 41222942
214BRCA1NM_007294.3(BRCA1): c.505C> T (p.Gln169Ter)single nucleotide variantPathogenicrs80357133GRCh37Chr 17, 41251834: 41251834
215BRCA1NM_007294.3(BRCA1): c.5080G> T (p.Glu1694Ter)single nucleotide variantPathogenicrs80356896GRCh37Chr 17, 41215963: 41215963
216BRCA1NM_007294.3(BRCA1): c.5095C> T (p.Arg1699Trp)single nucleotide variantPathogenicrs55770810GRCh37Chr 17, 41215948: 41215948
217BRCA1NM_007294.3(BRCA1): c.5109T> G (p.Tyr1703Ter)single nucleotide variantPathogenicrs80356974GRCh37Chr 17, 41215934: 41215934
218BRCA1NM_007294.3(BRCA1): c.5123C> A (p.Ala1708Glu)single nucleotide variantPathogenicrs28897696GRCh37Chr 17, 41215920: 41215920
219BRCA1NM_007294.3(BRCA1): c.5137delG (p.Val1713Terfs)deletionPathogenicrs80357997GRCh37Chr 17, 41215906: 41215906
220BRCA1NM_007294.3(BRCA1): c.5152+1G> Tsingle nucleotide variantPathogenicrs80358094GRCh37Chr 17, 41215890: 41215890
221BRCA1NM_007294.3(BRCA1): c.5251C> T (p.Arg1751Ter)single nucleotide variantPathogenicrs80357123GRCh37Chr 17, 41209095: 41209095
222BRCA1NM_007294.3(BRCA1): c.5319dupC (p.Asn1774Glnfs)duplicationPathogenicrs80357823GRCh37Chr 17, 41203093: 41203093
223BRCA1NM_007294.3(BRCA1): c.5353C> T (p.Gln1785Ter)single nucleotide variantPathogenicrs80356969GRCh37Chr 17, 41201191: 41201191
224BRCA1NM_007294.3(BRCA1): c.5444G> A (p.Trp1815Ter)single nucleotide variantPathogenicrs80356962GRCh37Chr 17, 41199683: 41199683
225BRCA1NM_007294.3(BRCA1): c.5558dupA (p.Tyr1853Terfs)duplicationPathogenicrs80357629GRCh37Chr 17, 41197729: 41197729
226BRCA1NM_007294.3(BRCA1): c.685delT (p.Ser229Leufs)deletionPathogenicrs80357824GRCh37Chr 17, 41246863: 41246863
227BRCA1NM_007294.3(BRCA1): c.815_824dupAGCCATGTGG (p.Thr276Alafs)duplicationPathogenicrs387906563GRCh37Chr 17, 41246724: 41246733
228BRCA1NM_007294.3(BRCA1): c.4358-?_5277+?deldeletionPathogenicGRCh37Chr 17, 41209069: 41228631
229BRCA1NM_007294.3(BRCA1): c.4987-?_5074+?deldeletionPathogenicGRCh37Chr 17, 41219625: 41219712
230BRCA2NM_000059.3(BRCA2): c.9252_9255delAACAinsTT (p.Lys3084Asnfs)indelPathogenicrs276174918GRCh37Chr 13, 32954278: 32954281
231BRCA2NM_000059.3(BRCA2): c.9808delG (p.Ala3270Profs)deletionLikely pathogenic, Pathogenicrs398122622GRCh37Chr 13, 32972458: 32972458
232BRCA1NM_007294.3(BRCA1): c.3672delC (p.Cys1225Alafs)deletionPathogenicrs398122677GRCh37Chr 17, 41243876: 41243876
233BRCA1NM_007294.3(BRCA1): c.3761_3762insTT (p.Lys1254Asnfs)insertionPathogenicrs80357928GRCh37Chr 17, 41243786: 41243787
234BRCA2NM_000059.3(BRCA2): c.8839G> T (p.Glu2947Ter)single nucleotide variantPathogenicrs398122715GRCh37Chr 13, 32953538: 32953538
235BRCA2NM_000059.3(BRCA2): c.6275_6276delTT (p.Leu2092Profs)deletionPathogenicrs11571658GRCh37Chr 13, 32914767: 32914768
236BRCA2NM_000059.3(BRCA2): c.6591_6592delTG (p.Glu2198Asnfs)deletionPathogenicrs80359605GRCh37Chr 13, 32915083: 32915084
237BRCA2NM_000059.3(BRCA2): c.5722_5723delCT (p.Leu1908Argfs)deletionPathogenicrs80359530GRCh37Chr 13, 32914214: 32914215
238BRCA2NM_000059.3(BRCA2): c.2808_2811del4 (p.Ala938Profs)deletionPathogenicrs80359351GRCh37Chr 13, 32911300: 32911303
239BRCA2NM_000059.3(BRCA2): c.5946delT (p.Ser1982Argfs)deletionPathogenic, risk factorrs80359550GRCh37Chr 13, 32914438: 32914438
240BRCA2NM_000059.3(BRCA2): c.771_775delTCAAA (p.Asn257Lysfs)deletionPathogenicrs80359675GRCh37Chr 13, 32905145: 32905149
241BRCA2NM_000059.3(BRCA2): c.8537_8538delAG (p.Glu2846Glyfs)deletionPathogenicrs80359714GRCh37Chr 13, 32945142: 32945143
242BRCA2NM_000059.3(BRCA2): c.658_659delGT (p.Val220Ilefs)deletionPathogenic, risk factorrs80359604GRCh37Chr 13, 32903606: 32903607
243BRCA2NM_000059.3(BRCA2): c.631+1G> Asingle nucleotide variantPathogenicrs81002897GRCh37Chr 13, 32900751: 32900751
244BRCA2NM_000059.3(BRCA2): c.631+2T> Gsingle nucleotide variantPathogenicrs81002899GRCh37Chr 13, 32900752: 32900752
245BRCA2NM_000059.3(BRCA2): c.4976_4977insG (p.Tyr1661Leufs)insertionPathogenicrs431825325GRCh37Chr 13, 32913468: 32913469
246BRCA1NM_007294.3(BRCA1): c.4986+5G> Asingle nucleotide variantLikely pathogenic, Pathogenicrs397509211GRCh37Chr 17, 41222940: 41222940

Expression for genes affiliated with Brca1 and Brca2 Hereditary Breast and Ovarian Cancer

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Search GEO for disease gene expression data for Brca1 and Brca2 Hereditary Breast and Ovarian Cancer.

Pathways for genes affiliated with Brca1 and Brca2 Hereditary Breast and Ovarian Cancer

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GO Terms for genes affiliated with Brca1 and Brca2 Hereditary Breast and Ovarian Cancer

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Biological processes related to Brca1 and Brca2 Hereditary Breast and Ovarian Cancer according to GeneCards Suite gene sharing:

(show all 14)
idNameGO IDScoreTop Affiliating Genes
1DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediatorGO:000697810.1BRCA1, BRCA2
2chordate embryonic developmentGO:004300910.1BRCA1, BRCA2
3intrinsic apoptotic signaling pathway in response to DNA damageGO:000863010.0BRCA1, BRCA2
4chromosome organizationGO:005127610.0BRCA2, RAD54L
5inner cell mass cell proliferationGO:00018339.7BRCA2, PALB2
6DNA recombinationGO:00063109.6BRCA1, BRCA2, RAD54L
7response to ionizing radiationGO:00102129.5BRCA1, RAD54L
8chromosome breakageGO:00310529.3BRCA1, BRCA2, PALB2
9multicellular organism growthGO:00352649.3BRCA2, PALB2
10double-strand break repair via synthesis-dependent strand annealingGO:00450039.0BRCA1, BRCA2, PALB2
11cellular response to DNA damage stimulusGO:00069748.9BRCA1, BRCA2, RAD54L
12double-strand break repair via homologous recombinationGO:00007248.5BRCA1, BRCA2, PALB2, RAD54L
13double-strand break repairGO:00063028.5BRCA1, BRCA2, PALB2, RAD54L
14DNA repairGO:00062818.2BRCA1, BRCA2, PALB2, RAD54L

Sources for Brca1 and Brca2 Hereditary Breast and Ovarian Cancer

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2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet