MCID: BRC084
MIFTS: 43

Brca1 Hereditary Breast and Ovarian Cancer Syndrome malady

Categories: Genetic diseases, Rare diseases, Cancer diseases

Aliases & Classifications for Brca1 Hereditary Breast and Ovarian Cancer Syndrome

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

Name: Brca1 Hereditary Breast and Ovarian Cancer Syndrome 46
Familial Susceptibility to Breast-Ovarian Cancer 1 46 25
Brca1 Hereditary Breast and Ovarian Cancer 23
Malignant Neoplasm of Breast 66
 
Breast Carcinoma 66
Breast Cancer 23
Brovca1 46

Classifications:



Summaries for Brca1 Hereditary Breast and Ovarian Cancer Syndrome

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NIH Rare Diseases:46 Brca1 hereditary breast and ovarian cancer syndrome (brca1 hboc) is an inherited condition that is characterized by an increased risk for a variety of different cancers. women with this condition have a 57-60% risk of developing breast cancer, a 40-59% risk of developing ovarian cancer and an 83% risk of developing contralateral breast cancer by age 70. men have a 1% lifetime risk of breast cancer and an increased risk for prostate cancer. brca1 hboc may also be associated with an elevated risk for cancers of the cervix, uterus, pancreas, esophagus, stomach, fallopian tube, and primary peritoneum; however, these risks are not well defined. this condition is caused by changes (mutations) in the brca1 gene and is inherited in an autosomal dominant manner. management may include high risk cancer screening, chemoprevention and/or prophylactic surgeries. last updated: 3/10/2015

MalaCards based summary: Brca1 Hereditary Breast and Ovarian Cancer Syndrome, also known as familial susceptibility to breast-ovarian cancer 1, is related to estrogen-receptor negative breast cancer and familial breast cancer, and has symptoms including pelvic pain An important gene associated with Brca1 Hereditary Breast and Ovarian Cancer Syndrome is BRCA1 (BRCA1, DNA Repair Associated), and among its related pathways are FOXM1 transcription factor network and DNA damage_NHEJ mechanisms of DSBs repair. Affiliated tissues include breast, prostate and cervix, and related mouse phenotypes are limbs/digits/tail and immune system.

Related Diseases for Brca1 Hereditary Breast and Ovarian Cancer Syndrome

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

(show top 50)    (show all 74)
idRelated DiseaseScoreTop Affiliating Genes
1estrogen-receptor negative breast cancer33.3BRCA1, BRCA2
2familial breast cancer31.7APC, BRCA1, BRCA2, CHEK2, PALB2
3breast cancer31.1APC, BRCA1, BRCA2, CHEK2, NBN, PALB2
4breast cancer, childhood29.8APC, BRCA1, BRCA2, CHEK2, NBN, PALB2
5bilateral breast cancer12.2
6estrogen-receptor positive breast cancer12.1
7sporadic breast cancer12.1
8female breast cancer12.1
9progesterone-receptor positive breast cancer12.0
10progesterone-receptor negative breast cancer12.0
11triple-receptor negative breast cancer12.0
12androgen insensitivity, partial, with or without breast cancer11.9
13her2-receptor positive breast cancer11.9
14her2-receptor negative breast cancer11.9
15bard1-related susceptibility to breast cancer11.8
16brip1-related breast cancer11.8
17chek2-related susceptibility to breast cancer11.8
18rad51-related susceptibility to breast cancer11.8
19inflammatory breast carcinoma11.6
20gastric cancer risk after h. pylori infection11.2
21breast metaplastic carcinoma11.2
22brca2 hereditary breast and ovarian cancer syndrome11.2
23breast-ovarian cancer, familial 411.2
24breast-ovarian cancer, familial 311.2
25breast-ovarian cancer, familial, 111.0
26congenital pulmonary veins atresia or stenosis10.4BRCA1, BRCA2
27bronchopulmonary dysplasia10.4BRCA1, BRCA2
28cutaneous lupus erythematosus10.4BRCA1, BRCA2
29autoimmune disease of blood10.4BRCA1, BRCA2
30selective ige deficiency disease10.4BRCA1, BRCA2
31cervical serous adenocarcinoma10.4BRCA1, BRCA2
32fat necrosis of breast10.4BRCA1, BRCA2
33amyloid tumor10.4BRCA1, BRCA2
34ovarian brenner tumor10.4BRCA1, BRCA2
35fallopian tube germ cell cancer10.4BRCA1, BRCA2
36rectum mucinous adenocarcinoma10.4BRCA1, BRCA2
37chronic frontal sinusitis10.3BRCA1, BRCA2
38papillary adenofibroma10.3BRCA1, BRCA2
39spindle cell synovial sarcoma10.3BRCA1, BRCA2
40leiomyosarcoma10.3BRCA1, BRCA2
41breast squamous cell carcinoma10.3BRCA1, BRCA2
42distal monosomy 9p10.3BRCA1, BRCA2
43mediastinal neurilemmoma10.3BRCA1, BRCA2
44myasthenia gravis, limb-girdle10.3BRCA1, BRCA2
45ductal carcinoma in situ10.3BRCA1, BRCA2
46dental caries10.3BRCA1, BRCA2
47milker's nodule10.2BRCA1, BRCA2
48ovarian wilms' cancer10.2BRCA1, BRCA2
49mucinous adenocarcinoma10.2APC, BRCA2
50lung carcinoma in situ10.2BRCA1, BRCA2

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



Diseases related to brca1 hereditary breast and ovarian cancer syndrome

Symptoms for Brca1 Hereditary Breast and Ovarian Cancer Syndrome

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UMLS symptoms related to Brca1 Hereditary Breast and Ovarian Cancer Syndrome:


pelvic pain

Drugs & Therapeutics for Brca1 Hereditary Breast and Ovarian Cancer Syndrome

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

(show all 7)
idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1
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
2
tremelimumabPhase 1, Phase 283
Synonyms:
206
CP675
 
CP675206
Ticilimumab
tremelimumab
3
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
4
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
5
CarboplatinPhase 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+)
6
Pancrelipase91753608-75-6
Synonyms:
1,4-alpha-D- glucan glucanohydrolase
PA
 
Pancreatic alpha-amylase precursor
Pancrelipase (amylase
lipase
protease)
7pancreatin917

Interventional clinical trials:

(show all 22)
idNameStatusNCT IDPhase
1Methods in Education for Breast Cancer GeneticsActive, not recruitingNCT00001806Phase 3
2Search Allelic Imbalance of Expression of BRCA Genes in Hereditary Risk of Breast and/or Ovarian CancerCompletedNCT01333748Phase 2
3Trial of Inquiry Based Stress Reduction (IBSR) Program for BRCA1/2 Mutation CarriersCompletedNCT01367639Phase 2
4A 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
5PARP-inhibition and CTLA-4 Blockade in BRCA-deficient Ovarian CancerRecruitingNCT02571725Phase 1, Phase 2
6Family Gene ToolkitSuspendedNCT02154633Phase 2
7Veliparib, Carboplatin, and Paclitaxel in Treating Patients With Advanced Solid CancerCompletedNCT00535119Phase 1
8Veliparib in Treating Patients With Malignant Solid Tumors That Do Not Respond to Previous TherapyActive, not recruitingNCT00892736Phase 1
9Risk Education and Assessment for Cancer HeredityCompletedNCT01346761
10Establishment of Normal Breast Epithelial Cell Lines From Patients at High Risk for Breast CancerCompletedNCT00001496
11Efficacy of Lifestyle Intervention in BRCA1/2 Mutation CarriersRecruitingNCT02516540
12Triple Negative Breast Cancer and Germline Hereditary Breast and Ovarian Cancer Mutation Carrier RegistryRecruitingNCT02302742
13Cancer Genetics Hereditary Cancer Panel TestingRecruitingNCT02324062
14Pancreatic Cancer GeneticsRecruitingNCT01102569
15Culturally-Informed Counseling in Latinas at High Risk for Hereditary Breast or Ovarian CancerRecruitingNCT01230346
16C-PATROL - Non-interventional Study (NIS) to Collect Clinical and Patient Reported Outcome Data in an Olaparib Treated BRCAm+ PSR Ovarian Cancer PopulationRecruitingNCT02503436
17Feasibility of Lifestyle Intervention in BRCA1/2 Mutation CarriersActive, not recruitingNCT02087592
18Genetic Counseling for Breast Cancer Survivors (GC for BC)Active, not recruitingNCT02451735
19Clinical, Genetic, Behavioral, Laboratory and Epidemiologic Characterization of Individuals and Families at High Risk of Breast/Ovarian CancerActive, not recruitingNCT00040222
20Identification and Referral of Women at Risk for Hereditary Breast/Ovarian CancerEnrolling by invitationNCT02786147
21Women at Risk of Breast Cancer and OLFM4Not yet recruitingNCT02653105
22Family Communication of Hereditary Breast and Ovarian Cancer Risk Among African AmericansTerminatedNCT01374685

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

Genetic Tests for Brca1 Hereditary Breast and Ovarian Cancer Syndrome

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

id Genetic test Affiliating Genes
1 Breast-Ovarian Cancer, Familial 125
2 Brca1 Hereditary Breast and Ovarian Cancer23 BRCA1

Anatomical Context for Brca1 Hereditary Breast and Ovarian Cancer Syndrome

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

34
Breast, Prostate, Cervix, Uterus, Pancreas, Testes

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

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

39 (show all 16)
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053718.5APC, BRCA1, BRCA2, PALB2
2MP:00053878.1APC, BRCA1, BRCA2, CHEK2, NBN
3MP:00053808.1APC, BRCA1, BRCA2, NBN, PALB2
4MP:00053977.9APC, BRCA1, BRCA2, CHEK2, NBN
5MP:00036317.8APC, BRCA1, BRCA2, NBN, PALB2
6MP:00053847.5APC, BRCA1, BRCA2, CHEK2, NBN, PALB2
7MP:00020067.5APC, BRCA1, BRCA2, CHEK2, NBN, PALB2
8MP:00107687.2APC, BRCA1, BRCA2, CHEK2, NBN, PALB2

Publications for Brca1 Hereditary Breast and Ovarian Cancer Syndrome

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Variations for Brca1 Hereditary Breast and Ovarian Cancer Syndrome

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

5 (show all 301)
id Gene Variation Type Significance SNP ID Assembly Location
1PALB2NM_024675.3(PALB2): c.3549C> G (p.Tyr1183Ter)single nucleotide variantLikely pathogenic, Pathogenic, risk factorrs118203998GRCh37Chr 16, 23614792: 23614792
2PALB2NM_024675.3(PALB2): c.2962C> T (p.Gln988Ter)single nucleotide variantPathogenic, risk factorrs118203999GRCh37Chr 16, 23634324: 23634324
3BRCA1NM_007294.3(BRCA1): c.1812delA (p.Ala605Hisfs)deletionPathogenicrs80357927GRCh38Chr 17, 43093719: 43093719
4BRCA1NM_007294.3(BRCA1): c.135-2A> Gsingle nucleotide variantLikely pathogenic, Pathogenicrs80358065GRCh37Chr 17, 41258552: 41258552
5BRCA1NM_007294.3(BRCA1): c.4676-1G> Asingle nucleotide variantLikely pathogenic, Pathogenicrs80358008GRCh38Chr 17, 43071239: 43071239
6BRCA1NM_007294.3(BRCA1): c.5152+1G> Asingle nucleotide variantPathogenicrs80358094GRCh37Chr 17, 41215890: 41215890
7BRCA1NM_007294.3(BRCA1): c.456_457delCA (p.Ser153Cysfs)deletionPathogenicrs80357882GRCh38Chr 17, 43099865: 43099866
8PALB2NM_024675.3(PALB2): c.1027C> T (p.Gln343Ter)single nucleotide variantPathogenic, risk factorrs180177097GRCh38Chr 16, 23635519: 23635519
9PALB2NM_024675.3(PALB2): c.3116delA (p.Asn1039Ilefs)deletionLikely pathogenic, Pathogenic, risk factorrs180177133GRCh38Chr 16, 23614089: 23614089
10BRCA2NM_000059.3(BRCA2): c.1909+1G> Asingle nucleotide variantLikely pathogenic, Pathogenicrs587781629GRCh37Chr 13, 32907525: 32907525
11BRCA2NM_000059.3(BRCA2): c.6816_6820delAAGAG (p.Gly2274Alafs)deletionPathogenicrs587781803GRCh37Chr 13, 32915308: 32915312
12BRCA1NM_007294.3(BRCA1): c.181T> G (p.Cys61Gly)single nucleotide variantPathogenicrs28897672GRCh37Chr 17, 41258504: 41258504
13BRCA1NM_007294.3(BRCA1): c.68_69delAG (p.Glu23Valfs)deletionPathogenicrs386833395GRCh37Chr 17, 41276047: 41276048
14BRCA1NM_007294.3(BRCA1): c.1175_1214del40 (p.Leu392Glnfs)deletionPathogenicrs80359874GRCh37Chr 17, 41246334: 41246373
15BRCA1NM_007294.3(BRCA1): c.2296_2297delAG (p.Ser766Terfs)deletionPathogenicrs80357780GRCh37Chr 17, 41245251: 41245252
16BRCA1NM_007294.3(BRCA1): c.2681_2682delAA (p.Lys894Thrfs)deletionPathogenicrs80357971GRCh37Chr 17, 41244866: 41244867
17BRCA1NM_007294.3(BRCA1): c.3005delA (p.Asn1002Thrfs)deletionPathogenicrs80357601GRCh38Chr 17, 43092526: 43092526
18BRCA1NM_007294.3(BRCA1): c.3607C> T (p.Arg1203Ter)single nucleotide variantPathogenicrs62625308GRCh37Chr 17, 41243941: 41243941
19BRCA1NM_007294.3(BRCA1): c.3748G> T (p.Glu1250Ter)single nucleotide variantPathogenicrs28897686GRCh37Chr 17, 41243800: 41243800
20BRCA1NM_007294.3(BRCA1): c.3756_3759delGTCT (p.Ser1253Argfs)deletionPathogenicrs80357868GRCh37Chr 17, 41243789: 41243792
21BRCA1NM_007294.3(BRCA1): c.4065_4068delTCAA (p.Asn1355Lysfs)deletionPathogenicrs80357508GRCh37Chr 17, 41243480: 41243483
22BRCA1NM_007294.3(BRCA1): c.4327C> T (p.Arg1443Ter)single nucleotide variantPathogenicrs41293455GRCh37Chr 17, 41234451: 41234451
23BRCA1NM_007294.3(BRCA1): c.5266dupC (p.Gln1756Profs)duplicationPathogenicrs80357906GRCh37Chr 17, 41209082: 41209082
24BRCA1NM_007294.3(BRCA1): c.2389G> T (p.Glu797Ter)single nucleotide variantPathogenicrs62625306GRCh37Chr 17, 41245159: 41245159
25BRCA1NM_007294.3(BRCA1): c.843_846delCTCA (p.Ser282Tyrfs)deletionLikely pathogenic, Pathogenicrs80357919GRCh37Chr 17, 41246702: 41246705
26BRCA1NM_007294.3(BRCA1): c.3481_3491delGAAGATACTAG (p.Glu1161Phefs)deletionPathogenicrs80357877GRCh37Chr 17, 41244057: 41244067
27BRCA1NM_007294.3(BRCA1): c.1556delA (p.Lys519Argfs)deletionPathogenicrs80357662GRCh37Chr 17, 41245992: 41245992
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
30BRCA1NM_007294.3(BRCA1): c.3767_3768delCA (p.Thr1256Argfs)deletionPathogenicrs730881440GRCh38Chr 17, 43091763: 43091764
31BRCA1NM_007294.3(BRCA1): c.4987-1G> Asingle nucleotide variantPathogenicrs730881495GRCh38Chr 17, 43067696: 43067696
32BRCA1NM_007294.3(BRCA1): c.4998C> A (p.Tyr1666Ter)single nucleotide variantPathogenicrs730882165GRCh37Chr 17, 41219701: 41219701
33BRCA1NM_007294.3(BRCA1): c.2043dupT (p.Asn682Terfs)duplicationPathogenicrs863224510GRCh37Chr 17, 41245505: 41245505
34BRCA1NM_007294.3(BRCA1): c.442C> T (p.Gln148Ter)single nucleotide variantLikely pathogenic, Pathogenicrs876659614GRCh37Chr 17, 41251897: 41251897
35BRCA1NM_007294.3(BRCA1): c.3675C> A (p.Cys1225Ter)single nucleotide variantLikely pathogenic, Pathogenicrs879254023GRCh38Chr 17, 43091856: 43091856
36NM_000051.3(ATM): c.7271T> G (p.Val2424Gly)single nucleotide variantPathogenic, risk factorrs28904921GRCh37Chr 11, 108199929: 108199929
37BRCA1NM_007294.3(BRCA1): c.1016delA (p.Lys339Argfs)deletionPathogenicrs80357618GRCh37Chr 17, 41246532: 41246532
38BRCA1NM_007294.3(BRCA1): c.1018delG (p.Val340Terfs)deletionPathogenicrs80357774GRCh37Chr 17, 41246530: 41246530
39BRCA1NM_007294.3(BRCA1): c.116G> T (p.Cys39Phe)single nucleotide variantPathogenicrs80357498GRCh37Chr 17, 41267761: 41267761
40BRCA1NM_007294.3(BRCA1): c.135-1G> Tsingle nucleotide variantPathogenicrs80358158GRCh37Chr 17, 41258551: 41258551
41BRCA1NM_007294.3(BRCA1): c.1389_1390delAAinsG (p.Thr464Profs)indelPathogenicrs273897659GRCh37Chr 17, 41246158: 41246159
42BRCA1NM_007294.3(BRCA1): c.143delT (p.Met48Serfs)deletionPathogenicrs80357637GRCh37Chr 17, 41258542: 41258542
43BRCA1NM_007294.3(BRCA1): c.1444_1447delATTA (p.Ile482Terfs)deletionPathogenicrs80357801GRCh37Chr 17, 41246101: 41246104
44BRCA1NM_007294.3(BRCA1): c.1480C> T (p.Gln494Ter)single nucleotide variantPathogenicrs80357010GRCh37Chr 17, 41246068: 41246068
45BRCA1NM_007294.3(BRCA1): c.1504_1508delTTAAA (p.Leu502Alafs)deletionPathogenicrs80357888GRCh37Chr 17, 41246040: 41246044
46BRCA1NM_007294.3(BRCA1): c.1674delA (p.Gly559Valfs)deletionPathogenicrs80357600GRCh37Chr 17, 41245874: 41245874
47BRCA1NM_007294.3(BRCA1): c.1687C> T (p.Gln563Ter)single nucleotide variantPathogenicrs80356898GRCh37Chr 17, 41245861: 41245861
48BRCA1NM_007294.3(BRCA1): c.1953_1956delGAAA (p.Lys653Serfs)deletionPathogenicrs80357526GRCh37Chr 17, 41245592: 41245595
49BRCA1NM_007294.3(BRCA1): c.1960A> T (p.Lys654Ter)single nucleotide variantPathogenicrs80357355GRCh37Chr 17, 41245588: 41245588
50BRCA1NM_007294.3(BRCA1): c.1961delA (p.Lys654Serfs)deletionPathogenicrs80357522GRCh37Chr 17, 41245587: 41245587
51BRCA1NM_007294.3(BRCA1): c.2071delA (p.Arg691Aspfs)deletionPathogenicrs80357688GRCh37Chr 17, 41245477: 41245477
52BRCA1NM_007294.3(BRCA1): c.2105dupT (p.Leu702Phefs)duplicationPathogenicrs80357880GRCh37Chr 17, 41245443: 41245443
53BRCA1NM_007294.3(BRCA1): c.213-11T> Gsingle nucleotide variantPathogenicrs80358061GRCh37Chr 17, 41256984: 41256984
54BRCA1NM_007294.3(BRCA1): c.213-12A> Gsingle nucleotide variantPathogenicrs80358163GRCh37Chr 17, 41256985: 41256985
55BRCA1NM_007294.3(BRCA1): c.2138C> G (p.Ser713Ter)single nucleotide variantPathogenicrs80357233GRCh37Chr 17, 41245410: 41245410
56BRCA1NM_007294.3(BRCA1): c.2210_2211delCA (p.Thr737Serfs)deletionPathogenicrs80357654GRCh37Chr 17, 41245337: 41245338
57BRCA1NM_007294.3(BRCA1): c.2269delG (p.Val757Phefs)deletionPathogenicrs80357583GRCh37Chr 17, 41245279: 41245279
58BRCA1NM_007294.3(BRCA1): c.2411_2412delAG (p.Gln804Leufs)deletionPathogenicrs80357664GRCh37Chr 17, 41245136: 41245137
59BRCA1NM_007294.3(BRCA1): c.2433delC (p.Lys812Argfs)deletionPathogenicrs80357524GRCh37Chr 17, 41245115: 41245115
60BRCA1NM_007294.3(BRCA1): c.2457delC (p.Asp821Ilefs)deletionPathogenicrs80357669GRCh37Chr 17, 41245091: 41245091
61BRCA1NM_007294.3(BRCA1): c.2475delC (p.Asp825Glufs)deletionPathogenicrs80357970GRCh37Chr 17, 41245073: 41245073
62BRCA1NM_007294.3(BRCA1): c.2515delC (p.His839Thrfs)deletionPathogenicrs80357607GRCh37Chr 17, 41245033: 41245033
63BRCA1NM_007294.3(BRCA1): c.2563C> T (p.Gln855Ter)single nucleotide variantPathogenicrs80357131GRCh37Chr 17, 41244985: 41244985
64BRCA1NM_007294.3(BRCA1): c.2603C> G (p.Ser868Ter)single nucleotide variantPathogenicrs80356925GRCh37Chr 17, 41244945: 41244945
65BRCA1NM_007294.3(BRCA1): c.2635G> T (p.Glu879Ter)single nucleotide variantLikely pathogenic, Pathogenicrs80357251GRCh37Chr 17, 41244913: 41244913
66BRCA1NM_007294.3(BRCA1): c.2679_2682delGAAA (p.Lys893Asnfs)deletionPathogenicrs80357596GRCh37Chr 17, 41244866: 41244869
67BRCA1NM_007294.3(BRCA1): c.2806_2809delGATA (p.Asp936Serfs)deletionPathogenicrs80357832GRCh37Chr 17, 41244739: 41244742
68BRCA1NM_007294.3(BRCA1): c.2934T> G (p.Tyr978Ter)single nucleotide variantPathogenicrs80357115GRCh37Chr 17, 41244614: 41244614
69BRCA1NM_007294.3(BRCA1): c.302-3C> Gsingle nucleotide variantLikely pathogenic, Pathogenicrs80358051GRCh37Chr 17, 41256281: 41256281
70BRCA1NM_007294.3(BRCA1): c.3228_3229delAG (p.Gly1077Alafs)deletionPathogenicrs80357635GRCh37Chr 17, 41244319: 41244320
71BRCA1NM_007294.3(BRCA1): c.3331_3334delCAAG (p.Gln1111Asnfs)deletionPathogenicrs80357701GRCh37Chr 17, 41244214: 41244217
72BRCA1NM_007294.3(BRCA1): c.3358_3359delGT (p.Val1120Terfs)deletionPathogenicrs80357945GRCh37Chr 17, 41244189: 41244190
73BRCA1NM_007294.3(BRCA1): c.3389C> G (p.Ser1130Ter)single nucleotide variantPathogenicrs80357405GRCh37Chr 17, 41244159: 41244159
74BRCA1NM_007294.3(BRCA1): c.3400G> T (p.Glu1134Ter)single nucleotide variantPathogenicrs80357018GRCh37Chr 17, 41244148: 41244148
75BRCA1NM_007294.3(BRCA1): c.3485delA (p.Asp1162Valfs)deletionPathogenicrs80357509GRCh37Chr 17, 41244063: 41244063
76BRCA1NM_007294.3(BRCA1): c.3612delA (p.Ala1206Profs)deletionPathogenicrs80357980GRCh37Chr 17, 41243936: 41243936
77BRCA1NM_007294.3(BRCA1): c.3627dupA (p.Glu1210Argfs)duplicationPathogenicrs80357729GRCh37Chr 17, 41243921: 41243921
78BRCA1NM_007294.3(BRCA1): c.3648dupA (p.Ser1217Ilefs)duplicationPathogenicrs80357902GRCh37Chr 17, 41243900: 41243900
79BRCA1NM_007294.3(BRCA1): c.3700_3704delGTAAA (p.Val1234Glnfs)deletionPathogenicrs80357609GRCh37Chr 17, 41243844: 41243848
80BRCA1NM_007294.3(BRCA1): c.3759_3760delTA (p.Lys1254Glufs)deletionPathogenicrs80357520GRCh37Chr 17, 41243788: 41243789
81BRCA1NM_007294.3(BRCA1): c.3764dupA (p.Asn1255Lysfs)duplicationPathogenicrs80357848GRCh37Chr 17, 41243784: 41243784
82BRCA1NM_007294.3(BRCA1): c.3770_3771delAG (p.Glu1257Glyfs)deletionPathogenicrs80357579GRCh37Chr 17, 41243777: 41243778
83BRCA1NM_007294.3(BRCA1): c.3858_3861delTGAG (p.Ser1286Argfs)deletionPathogenicrs80357842GRCh37Chr 17, 41243687: 41243690
84BRCA1NM_007294.3(BRCA1): c.4035delA (p.Glu1346Lysfs)deletionPathogenicrs80357711GRCh37Chr 17, 41243513: 41243513
85BRCA1NM_007294.3(BRCA1): c.4096+1G> Asingle nucleotide variantLikely pathogenic, Pathogenicrs80358178GRCh37Chr 17, 41243451: 41243451
86BRCA1NM_007294.3(BRCA1): c.4096+3A> Gsingle nucleotide variantLikely pathogenic, Pathogenicrs80358015GRCh37Chr 17, 41243449: 41243449
87BRCA1NM_007294.3(BRCA1): c.4117G> T (p.Glu1373Ter)single nucleotide variantPathogenicrs80357259GRCh37Chr 17, 41243029: 41243029
88BRCA1NM_007294.3(BRCA1): c.4148C> G (p.Ser1383Ter)single nucleotide variantPathogenicrs80357071GRCh37Chr 17, 41242998: 41242998
89BRCA1NM_007294.3(BRCA1): c.4185+2_4185+22del21insAindelPathogenicrs273900724GRCh37Chr 17, 41242939: 41242959
90BRCA1NM_007294.3(BRCA1): c.4243delG (p.Glu1415Lysfs)deletionPathogenicrs80357981GRCh37Chr 17, 41234535: 41234535
91BRCA1NM_007294.3(BRCA1): c.427G> T (p.Glu143Ter)single nucleotide variantPathogenicrs80356991GRCh37Chr 17, 41256153: 41256153
92BRCA1NM_007294.3(BRCA1): c.4357+1G> Asingle nucleotide variantPathogenicrs80358027GRCh37Chr 17, 41234420: 41234420
93BRCA1NM_007294.3(BRCA1): c.4391_4393delCTAinsTT (p.Pro1464Leufs)indelLikely pathogenic, Pathogenicrs273900730GRCh37Chr 17, 41228596: 41228598
94BRCA1NM_007294.3(BRCA1): c.4484G> T (p.Arg1495Met)single nucleotide variantPathogenicrs80357389GRCh37Chr 17, 41228505: 41228505
95BRCA1NM_007294.3(BRCA1): c.4689C> G (p.Tyr1563Ter)single nucleotide variantPathogenicrs80357433GRCh37Chr 17, 41223242: 41223242
96BRCA1NM_007294.3(BRCA1): c.470_471delCT (p.Ser157Terfs)deletionPathogenicrs80357887GRCh37Chr 17, 41251868: 41251869
97BRCA1NM_007294.3(BRCA1): c.4868C> G (p.Ala1623Gly)single nucleotide variantLikely pathogenic, Pathogenicrs80356862GRCh37Chr 17, 41223063: 41223063
98BRCA1NM_007294.3(BRCA1): c.4964_4982del19 (p.Ser1655Tyrfs)deletionLikely pathogenic, Pathogenicrs80359876GRCh37Chr 17, 41222949: 41222967
99BRCA1NM_007294.3(BRCA1): c.4986+6T> Csingle nucleotide variantLikely pathogenic, Pathogenicrs80358086GRCh37Chr 17, 41222939: 41222939
100BRCA1NM_007294.3(BRCA1): c.5030_5033delCTAA (p.Thr1677Ilefs)deletionPathogenicrs80357580GRCh37Chr 17, 41219666: 41219669
101BRCA1NM_007294.3(BRCA1): c.5074G> A (p.Asp1692Asn)single nucleotide variantLikely pathogenic, Pathogenicrs80187739GRCh37Chr 17, 41219625: 41219625
102BRCA1NM_007294.3(BRCA1): c.5074G> C (p.Asp1692His)single nucleotide variantPathogenicrs80187739GRCh37Chr 17, 41219625: 41219625
103BRCA1NM_007294.3(BRCA1): c.5096G> A (p.Arg1699Gln)single nucleotide variantLikely pathogenic, Pathogenicrs41293459GRCh37Chr 17, 41215947: 41215947
104BRCA1NM_007294.3(BRCA1): c.5117G> A (p.Gly1706Glu)single nucleotide variantPathogenicrs80356860GRCh37Chr 17, 41215926: 41215926
105BRCA1NM_007294.3(BRCA1): c.5152+1G> Csingle nucleotide variantPathogenicrs80358094GRCh37Chr 17, 41215890: 41215890
106BRCA1NM_007294.3(BRCA1): c.5177_5180delGAAA (p.Arg1726Lysfs)deletionPathogenicrs80357867GRCh37Chr 17, 41215363: 41215366
107BRCA1NM_007294.3(BRCA1): c.5179A> T (p.Lys1727Ter)single nucleotide variantPathogenicrs80357347GRCh37Chr 17, 41215364: 41215364
108BRCA1NM_007294.3(BRCA1): c.5207T> C (p.Val1736Ala)single nucleotide variantLikely pathogenic, Pathogenicrs45553935GRCh37Chr 17, 41209139: 41209139
109BRCA1NM_007294.3(BRCA1): c.5259delA (p.Glu1754Asnfs)deletionPathogenicrs80357925GRCh37Chr 17, 41209087: 41209087
110BRCA1NM_007294.3(BRCA1): c.5277+1G> Asingle nucleotide variantPathogenicrs80358150GRCh37Chr 17, 41209068: 41209068
111BRCA1NM_007294.3(BRCA1): c.5297T> G (p.Ile1766Ser)single nucleotide variantPathogenicrs80357463GRCh37Chr 17, 41203115: 41203115
112BRCA1NM_007294.3(BRCA1): c.5335delC (p.Gln1779Asnfs)deletionPathogenicrs80357590GRCh37Chr 17, 41201209: 41201209
113BRCA1NM_007294.3(BRCA1): c.5363G> T (p.Gly1788Val)single nucleotide variantPathogenicrs80357069GRCh37Chr 17, 41201181: 41201181
114BRCA1NM_007294.3(BRCA1): c.5387C> A (p.Ser1796Ter)single nucleotide variantPathogenicrs80357055GRCh37Chr 17, 41201157: 41201157
115BRCA1NM_007294.3(BRCA1): c.5453A> G (p.Asp1818Gly)single nucleotide variantLikely pathogenic, Pathogenicrs80357477GRCh37Chr 17, 41199674: 41199674
116BRCA1NM_007294.3(BRCA1): c.5467+1G> Asingle nucleotide variantLikely pathogenic, Pathogenicrs80358145GRCh37Chr 17, 41199659: 41199659
117BRCA1NM_007294.3(BRCA1): c.547+2T> Asingle nucleotide variantPathogenicrs80358047GRCh37Chr 17, 41251790: 41251790
118BRCA1NM_007294.3(BRCA1): c.66dupA (p.Glu23Argfs)duplicationPathogenicrs80357783GRCh37Chr 17, 41276048: 41276048
119BRCA1NM_007294.3(BRCA1): c.676delT (p.Cys226Valfs)deletionPathogenicrs80357941GRCh37Chr 17, 41246872: 41246872
120BRCA1NM_007294.3(BRCA1): c.697_698delGT (p.Val233Asnfs)deletionPathogenicrs80357747GRCh37Chr 17, 41246850: 41246851
121BRCA1NM_007294.3(BRCA1): c.783T> G (p.Tyr261Ter)single nucleotide variantPathogenicrs80357321GRCh37Chr 17, 41246765: 41246765
122BRCA1NM_007294.3(BRCA1): c.798_799delTT (p.Ser267Lysfs)deletionPathogenicrs80357724GRCh37Chr 17, 41246749: 41246750
123BRCA1NM_007294.3(BRCA1): c.929delA (p.Gln310Argfs)deletionPathogenicrs80357844GRCh37Chr 17, 41246619: 41246619
124BRCA1NM_007294.3(BRCA1): c.962G> A (p.Trp321Ter)single nucleotide variantPathogenicrs80357292GRCh37Chr 17, 41246586: 41246586
125BRCA2NM_000059.3(BRCA2): c.5035delA (p.Thr1679Leufs)deletionPathogenicrs80359477GRCh37Chr 13, 32913527: 32913527
126BRCA2NM_000059.3(BRCA2): c.8297delC (p.Thr2766Asnfs)deletionPathogenicrs80359705GRCh37Chr 13, 32937636: 32937636
127BRCA2NM_000059.3(BRCA2): c.9097dupA (p.Thr3033Asnfs)duplicationPathogenicrs397507419GRCh37Chr 13, 32954030: 32954030
128BRCA2NM_000059.3(BRCA2): c.9294C> G (p.Tyr3098Ter)single nucleotide variantPathogenicrs80359200GRCh37Chr 13, 32968863: 32968863
129BRCA2NM_000059.3(BRCA2): c.9435_9436delGT (p.Ser3147Cysfs)deletionPathogenicrs80359763GRCh37Chr 13, 32969004: 32969005
130BRCA2NM_000059.3(BRCA2): c.5130_5133delTGTA (p.Tyr1710Terfs)deletionPathogenicrs80359484GRCh37Chr 13, 32913622: 32913625
131BRCA2NM_000059.3(BRCA2): c.7558C> T (p.Arg2520Ter)single nucleotide variantPathogenicrs80358981GRCh37Chr 13, 32930687: 32930687
132BRCA2NM_000059.3(BRCA2): c.9154C> T (p.Arg3052Trp)single nucleotide variantPathogenicrs45580035GRCh37Chr 13, 32954180: 32954180
133BRCA1NM_007294.3(BRCA1): c.1011dupA (p.Val340Glyfs)duplicationPathogenicrs80357569GRCh37Chr 17, 41246532: 41246532
134BRCA1NM_007294.3(BRCA1): c.1054G> T (p.Glu352Ter)single nucleotide variantPathogenicrs80357472GRCh37Chr 17, 41246494: 41246494
135BRCA1NM_007294.3(BRCA1): c.1116G> A (p.Trp372Ter)single nucleotide variantPathogenicrs80357468GRCh37Chr 17, 41246432: 41246432
136BRCA1NM_007294.3(BRCA1): c.112_113delAA (p.Lys38Valfs)deletionPathogenicrs80357949GRCh37Chr 17, 41267764: 41267765
137BRCA1NM_007294.3(BRCA1): c.1204delG (p.Glu402Serfs)deletionPathogenicrs80357859GRCh37Chr 17, 41246344: 41246344
138BRCA1NM_007294.3(BRCA1): c.1287dupA (p.Asp430Argfs)duplicationPathogenicrs80357576GRCh37Chr 17, 41246261: 41246261
139BRCA1NM_007294.3(BRCA1): c.130T> A (p.Cys44Ser)single nucleotide variantPathogenicrs80357327GRCh37Chr 17, 41267747: 41267747
140BRCA1NM_007294.3(BRCA1): c.131G> A (p.Cys44Tyr)single nucleotide variantPathogenicrs80357446GRCh37Chr 17, 41267746: 41267746
141BRCA1NM_007294.3(BRCA1): c.131G> T (p.Cys44Phe)single nucleotide variantLikely pathogenic, Pathogenicrs80357446GRCh37Chr 17, 41267746: 41267746
142BRCA1NM_007294.3(BRCA1): c.1380dupA (p.Phe461Ilefs)duplicationPathogenicrs80357714GRCh37Chr 17, 41246168: 41246168
143BRCA1NM_007294.3(BRCA1): c.1439dupA (p.Asn480Lysfs)duplicationPathogenicrs80357505GRCh37Chr 17, 41246109: 41246109
144BRCA1NM_007294.3(BRCA1): c.1530delA (p.Gly511Alafs)deletionPathogenicrs80357735GRCh37Chr 17, 41246018: 41246018
145BRCA1NM_007294.3(BRCA1): c.1551delT (p.Phe517Leufs)deletionPathogenicrs80357630GRCh37Chr 17, 41245997: 41245997
146BRCA1NM_007294.3(BRCA1): c.1600C> T (p.Gln534Ter)single nucleotide variantPathogenicrs142074233GRCh37Chr 17, 41245948: 41245948
147BRCA1NM_007294.3(BRCA1): c.1793T> A (p.Leu598Ter)single nucleotide variantPathogenicrs80357118GRCh37Chr 17, 41245755: 41245755
148BRCA1NM_007294.3(BRCA1): c.1874_1877dupTAGT (p.Val627Serfs)duplicationPathogenicrs80357516GRCh37Chr 17, 41245671: 41245674
149BRCA1NM_007294.3(BRCA1): c.1881_1884delCAGT (p.Ser628Glufs)deletionPathogenicrs80357567GRCh37Chr 17, 41245664: 41245667
150BRCA1NM_007294.3(BRCA1): c.1892dupT (p.Ser632Lysfs)duplicationPathogenicrs80357932GRCh37Chr 17, 41245656: 41245656
151BRCA1NM_007294.3(BRCA1): c.1916T> A (p.Leu639Ter)single nucleotide variantPathogenicrs80357267GRCh37Chr 17, 41245632: 41245632
152BRCA1NM_007294.3(BRCA1): c.191G> A (p.Cys64Tyr)single nucleotide variantPathogenicrs55851803GRCh37Chr 17, 41258494: 41258494
153BRCA1NM_007294.3(BRCA1): c.1953dupG (p.Lys652Glufs)duplicationPathogenicrs80357753GRCh37Chr 17, 41245595: 41245595
154BRCA1NM_007294.3(BRCA1): c.195delG (p.Asn66Metfs)deletionLikely pathogenic, Pathogenicrs80357869GRCh37Chr 17, 41258490: 41258490
155BRCA1NM_007294.3(BRCA1): c.1961dupA (p.Tyr655Valfs)duplicationPathogenicrs80357853GRCh37Chr 17, 41245587: 41245587
156BRCA1NM_007294.3(BRCA1): c.1999C> T (p.Gln667Ter)single nucleotide variantPathogenicrs80356889GRCh37Chr 17, 41245549: 41245549
157BRCA1NM_007294.3(BRCA1): c.1A> G (p.Met1Val)single nucleotide variantPathogenicrs80357287GRCh37Chr 17, 41276113: 41276113
158BRCA1NM_007294.3(BRCA1): c.2017G> T (p.Glu673Ter)single nucleotide variantPathogenicrs80357391GRCh37Chr 17, 41245531: 41245531
159BRCA1NM_007294.3(BRCA1): c.2019delA (p.Glu673Aspfs)deletionPathogenicrs80357626GRCh37Chr 17, 41245529: 41245529
160BRCA1NM_007294.3(BRCA1): c.2035A> T (p.Lys679Ter)single nucleotide variantPathogenicrs80357082GRCh37Chr 17, 41245513: 41245513
161BRCA1NM_007294.3(BRCA1): c.2059C> T (p.Gln687Ter)single nucleotide variantPathogenicrs273898674GRCh37Chr 17, 41245489: 41245489
162BRCA1NM_007294.3(BRCA1): c.2110_2111delAA (p.Asn704Cysfs)deletionPathogenicrs80357814GRCh37Chr 17, 41245437: 41245438
163BRCA1NM_007294.3(BRCA1): c.212+1G> Tsingle nucleotide variantPathogenicrs80358042GRCh37Chr 17, 41258472: 41258472
164BRCA1NM_007294.3(BRCA1): c.2157dupA (p.Glu720Argfs)duplicationPathogenicrs80357715GRCh37Chr 17, 41245391: 41245391
165BRCA1NM_007294.3(BRCA1): c.2192_2196delAAGAA (p.Lys731Argfs)deletionPathogenicrs397508946GRCh37Chr 17, 41245352: 41245356
166BRCA1NM_007294.3(BRCA1): c.2216_2217delAA (p.Lys739Serfs)deletionLikely pathogenic, Pathogenicrs397508952GRCh37Chr 17, 41245331: 41245332
167BRCA1NM_007294.3(BRCA1): c.2309C> A (p.Ser770Ter)single nucleotide variantPathogenicrs80357063GRCh37Chr 17, 41245239: 41245239
168BRCA1NM_007294.3(BRCA1): c.2338C> T (p.Gln780Ter)single nucleotide variantPathogenicrs80356945GRCh37Chr 17, 41245210: 41245210
169BRCA1NM_007294.3(BRCA1): c.2443delA (p.Ile815Phefs)deletionPathogenicrs80357598GRCh37Chr 17, 41245105: 41245105
170BRCA1NM_007294.3(BRCA1): c.2594delA (p.Lys865Serfs)deletionPathogenicrs80357756GRCh37Chr 17, 41244954: 41244954
171BRCA1NM_007294.3(BRCA1): c.2719_2722delGAAG (p.Glu907Lysfs)deletionPathogenicrs80357731GRCh37Chr 17, 41244826: 41244829
172BRCA1NM_007294.3(BRCA1): c.2722G> T (p.Glu908Ter)single nucleotide variantLikely pathogenic, Pathogenicrs80356978GRCh37Chr 17, 41244826: 41244826
173BRCA1NM_007294.3(BRCA1): c.2726dupA (p.Asn909Lysfs)duplicationPathogenicrs80357685GRCh37Chr 17, 41244822: 41244822
174BRCA1NM_007294.3(BRCA1): c.2727_2730delTCAA (p.Asn909Lysfs)deletionPathogenicrs80357605GRCh37Chr 17, 41244818: 41244821
175BRCA1NM_007294.3(BRCA1): c.2761C> T (p.Gln921Ter)single nucleotide variantPathogenicrs80357377GRCh37Chr 17, 41244787: 41244787
176BRCA1NM_007294.3(BRCA1): c.2766delA (p.Val923Leufs)deletionPathogenicrs80357812GRCh37Chr 17, 41244782: 41244782
177BRCA1NM_007294.3(BRCA1): c.2800C> T (p.Gln934Ter)single nucleotide variantPathogenicrs80357223GRCh37Chr 17, 41244748: 41244748
178BRCA1NM_007294.3(BRCA1): c.2834_2836delGTAinsC (p.Ser945Thrfs)indelPathogenicrs386134270GRCh37Chr 17, 41244712: 41244714
179BRCA1NM_007294.3(BRCA1): c.2835dupT (p.Ile946Tyrfs)duplicationPathogenicrs80357519GRCh37Chr 17, 41244713: 41244713
180BRCA1NM_007294.3(BRCA1): c.2866_2870delTCTCA (p.Ser956Valfs)deletionPathogenicrs80357819GRCh37Chr 17, 41244678: 41244682
181BRCA1NM_007294.3(BRCA1): c.2934delT (p.Arg979Valfs)deletionPathogenicrs80357741GRCh37Chr 17, 41244614: 41244614
182BRCA1NM_007294.3(BRCA1): c.2989_2990dupAA (p.Asn997Lysfs)duplicationPathogenicrs80357829GRCh37Chr 17, 41244558: 41244559
183BRCA1NM_007294.3(BRCA1): c.2999delA (p.Glu1000Glyfs)deletionPathogenicrs80357991GRCh37Chr 17, 41244549: 41244549
184BRCA1NM_007294.3(BRCA1): c.3008_3009delTT (p.Phe1003Terfs)deletionPathogenicrs80357617GRCh37Chr 17, 41244539: 41244540
185BRCA1NM_007294.3(BRCA1): c.3013delG (p.Glu1005Asnfs)deletionPathogenicrs80357937GRCh37Chr 17, 41244535: 41244535
186BRCA1NM_007294.3(BRCA1): c.302-2delAdeletionPathogenicrs273899695GRCh37Chr 17, 41256280: 41256280
187BRCA1NM_007294.3(BRCA1): c.3029_3030delCT (p.Pro1010Argfs)deletionPathogenicrs80357510GRCh37Chr 17, 41244518: 41244519
188BRCA1NM_007294.3(BRCA1): c.303T> G (p.Tyr101Ter)single nucleotide variantPathogenicrs80356936GRCh37Chr 17, 41256277: 41256277
189BRCA1NM_007294.3(BRCA1): c.3048_3052dupTGAGA (p.Asn1018Metfs)duplicationPathogenicrs80357856GRCh37Chr 17, 41244496: 41244500
190BRCA1NM_007294.3(BRCA1): c.3084_3094delTAATAACATTA (p.Asn1029Argfs)deletionPathogenicrs80357647GRCh37Chr 17, 41244454: 41244464
191BRCA1NM_007294.3(BRCA1): c.3097G> T (p.Glu1033Ter)single nucleotide variantPathogenicrs273899698GRCh37Chr 17, 41244451: 41244451
192BRCA1NM_007294.3(BRCA1): c.3178G> T (p.Glu1060Ter)single nucleotide variantPathogenicrs80357424GRCh37Chr 17, 41244370: 41244370
193BRCA1NM_007294.3(BRCA1): c.3193dupG (p.Asp1065Glyfs)duplicationPathogenicrs80357511GRCh37Chr 17, 41244355: 41244355
194BRCA1NM_007294.3(BRCA1): c.3257T> G (p.Leu1086Ter)single nucleotide variantPathogenicrs80357006GRCh37Chr 17, 41244291: 41244291
195BRCA1NM_007294.3(BRCA1): c.3286delC (p.Gln1096Lysfs)deletionPathogenicrs80357533GRCh37Chr 17, 41244262: 41244262
196BRCA1NM_007294.3(BRCA1): c.329dupA (p.Glu111Glyfs)duplicationPathogenicrs80357604GRCh37Chr 17, 41256251: 41256251
197BRCA1NM_007294.3(BRCA1): c.3331C> T (p.Gln1111Ter)single nucleotide variantPathogenicrs80357089GRCh37Chr 17, 41244217: 41244217
198BRCA1NM_007294.3(BRCA1): c.3333delA (p.Glu1112Asnfs)deletionPathogenicrs80357966GRCh37Chr 17, 41244215: 41244215
199BRCA1NM_007294.3(BRCA1): c.3359_3360delTT (p.Val1120Glufs)deletionPathogenicrs80357843GRCh37Chr 17, 41244188: 41244189
200BRCA1NM_007294.3(BRCA1): c.3398T> A (p.Leu1133Ter)single nucleotide variantPathogenicrs80356971GRCh37Chr 17, 41244150: 41244150
201BRCA1NM_007294.3(BRCA1): c.3403C> T (p.Gln1135Ter)single nucleotide variantPathogenicrs80357136GRCh37Chr 17, 41244145: 41244145
202BRCA1NM_007294.3(BRCA1): c.3436_3439delTGTT (p.Cys1146Leufs)deletionPathogenicrs397509067GRCh37Chr 17, 41244109: 41244112
203BRCA1NM_007294.3(BRCA1): c.3477_3480delAAAG (p.Ile1159Metfs)deletionPathogenicrs80357781GRCh37Chr 17, 41244068: 41244071
204BRCA1NM_007294.3(BRCA1): c.3598C> T (p.Gln1200Ter)single nucleotide variantPathogenicrs62625307GRCh37Chr 17, 41243950: 41243950
205BRCA1NM_007294.3(BRCA1): c.3642_3643delGA (p.Asn1215Leufs)deletionPathogenicrs80357805GRCh37Chr 17, 41243905: 41243906
206BRCA1NM_007294.3(BRCA1): c.3661G> T (p.Glu1221Ter)single nucleotide variantPathogenicrs80357310GRCh37Chr 17, 41243887: 41243887
207BRCA1NM_007294.3(BRCA1): c.3668_3671dupTTCC (p.Cys1225Serfs)duplicationPathogenicrs80357797GRCh37Chr 17, 41243877: 41243880
208BRCA1NM_007294.3(BRCA1): c.3718C> T (p.Gln1240Ter)single nucleotide variantPathogenicrs80356903GRCh37Chr 17, 41243830: 41243830
209BRCA1NM_007294.3(BRCA1): c.3839_3843delCTCAGinsAGGC (p.Ser1280Terfs)indelPathogenicrs273900717GRCh37Chr 17, 41243705: 41243709
210BRCA1NM_007294.3(BRCA1): c.3841C> T (p.Gln1281Ter)single nucleotide variantPathogenicrs80356866GRCh37Chr 17, 41243707: 41243707
211BRCA1NM_007294.3(BRCA1): c.3869_3870delAA (p.Lys1290Metfs)deletionPathogenicrs80357918GRCh37Chr 17, 41243678: 41243679
212BRCA1NM_007294.3(BRCA1): c.3893C> A (p.Ser1298Ter)single nucleotide variantPathogenicrs80357440GRCh37Chr 17, 41243655: 41243655
213BRCA1NM_007294.3(BRCA1): c.390C> A (p.Tyr130Ter)single nucleotide variantPathogenicrs80356888GRCh37Chr 17, 41256190: 41256190
214BRCA1NM_007294.3(BRCA1): c.3916_3917delTT (p.Leu1306Aspfs)deletionPathogenicrs80357678GRCh37Chr 17, 41243631: 41243632
215BRCA1NM_007294.3(BRCA1): c.4041_4042delAG (p.Gly1348Asnfs)deletionLikely pathogenic, Pathogenicrs80357727GRCh37Chr 17, 41243506: 41243507
216BRCA1NM_007294.3(BRCA1): c.406dupA (p.Arg136Lysfs)duplicationPathogenicrs80357709GRCh37Chr 17, 41256174: 41256174
217BRCA1NM_007294.3(BRCA1): c.4165_4166delAG (p.Ser1389Terfs)deletionPathogenicrs80357572GRCh37Chr 17, 41242980: 41242981
218BRCA1NM_007294.3(BRCA1): c.4182_4183dupTC (p.Gln1395Leufs)duplicationPathogenicrs80357742GRCh37Chr 17, 41242963: 41242964
219BRCA1NM_007294.3(BRCA1): c.4183C> T (p.Gln1395Ter)single nucleotide variantPathogenicrs80357260GRCh37Chr 17, 41242963: 41242963
220BRCA1NM_007294.3(BRCA1): c.4222C> T (p.Gln1408Ter)single nucleotide variantPathogenicrs80356989GRCh37Chr 17, 41234556: 41234556
221BRCA1NM_007294.3(BRCA1): c.4258C> T (p.Gln1420Ter)single nucleotide variantPathogenicrs80357305GRCh37Chr 17, 41234520: 41234520
222BRCA1NM_007294.3(BRCA1): c.4357+1G> Csingle nucleotide variantLikely pathogenic, Pathogenicrs80358027GRCh37Chr 17, 41234420: 41234420
223BRCA1NM_007294.3(BRCA1): c.4357+1G> Tsingle nucleotide variantPathogenicrs80358027GRCh37Chr 17, 41234420: 41234420
224BRCA1NM_007294.3(BRCA1): c.4389C> A (p.Tyr1463Ter)single nucleotide variantPathogenicrs80356997GRCh37Chr 17, 41228600: 41228600
225BRCA1NM_007294.3(BRCA1): c.4485-1G> Asingle nucleotide variantPathogenicrs80358189GRCh37Chr 17, 41226539: 41226539
226BRCA1NM_007294.3(BRCA1): c.4485-2A> Gsingle nucleotide variantLikely pathogenic, Pathogenicrs80358054GRCh37Chr 17, 41226540: 41226540
227BRCA1NM_007294.3(BRCA1): c.4524G> A (p.Trp1508Ter)single nucleotide variantPathogenicrs80356885GRCh37Chr 17, 41226499: 41226499
228BRCA1NM_007294.3(BRCA1): c.4574_4575delAA (p.Gln1525Argfs)deletionPathogenicrs80357813GRCh37Chr 17, 41226448: 41226449
229BRCA1NM_007294.3(BRCA1): c.4603G> T (p.Glu1535Ter)single nucleotide variantPathogenicrs80357366GRCh37Chr 17, 41226420: 41226420
230BRCA1NM_007294.3(BRCA1): c.4611_4612insG (p.Gln1538Alafs)insertionPathogenicrs80357915GRCh37Chr 17, 41226411: 41226412
231BRCA1NM_007294.3(BRCA1): c.4612C> T (p.Gln1538Ter)single nucleotide variantPathogenicrs80356992GRCh37Chr 17, 41226411: 41226411
232BRCA1NM_007294.3(BRCA1): c.4625_4626delCT (p.Ser1542Trpfs)deletionPathogenicrs80357542GRCh37Chr 17, 41226397: 41226398
233BRCA1NM_007294.3(BRCA1): c.4675+1G> Asingle nucleotide variantPathogenicrs80358044GRCh37Chr 17, 41226347: 41226347
234BRCA1NM_007294.3(BRCA1): c.4754_4755delCA (p.Pro1585Argfs)deletionPathogenicrs80357837GRCh37Chr 17, 41223176: 41223177
235BRCA1NM_007294.3(BRCA1): c.4760C> G (p.Ser1587Ter)single nucleotide variantPathogenicrs397509195GRCh37Chr 17, 41223171: 41223171
236BRCA1NM_007294.3(BRCA1): c.4810C> T (p.Gln1604Ter)single nucleotide variantPathogenicrs80357352GRCh37Chr 17, 41223121: 41223121
237BRCA1NM_007294.3(BRCA1): c.4936delG (p.Val1646Serfs)deletionPathogenicrs80357653GRCh37Chr 17, 41222995: 41222995
238BRCA1NM_007294.3(BRCA1): c.4941delC (p.Asn1647Lysfs)deletionPathogenicrs80357905GRCh37Chr 17, 41222990: 41222990
239BRCA1NM_007294.3(BRCA1): c.4945delA (p.Arg1649Glufs)deletionLikely pathogenic, Pathogenicrs80357761GRCh37Chr 17, 41222986: 41222986
240BRCA1NM_007294.3(BRCA1): c.494dupT (p.Arg166Glufs)duplicationPathogenicrs80357762GRCh37Chr 17, 41251845: 41251845
241BRCA1NM_007294.3(BRCA1): c.4986+3G> Csingle nucleotide variantLikely pathogenic, Pathogenicrs80358023GRCh37Chr 17, 41222942: 41222942
242BRCA1NM_007294.3(BRCA1): c.4986+6T> Gsingle nucleotide variantLikely pathogenic, Pathogenicrs80358086GRCh37Chr 17, 41222939: 41222939
243BRCA1NM_007294.3(BRCA1): c.4999A> T (p.Lys1667Ter)single nucleotide variantPathogenicrs80357204GRCh37Chr 17, 41219700: 41219700
244BRCA1NM_007294.3(BRCA1): c.5035delC (p.Leu1679Terfs)deletionPathogenicrs80357896GRCh37Chr 17, 41219664: 41219664
245BRCA1NM_007294.3(BRCA1): c.5053A> G (p.Thr1685Ala)single nucleotide variantPathogenicrs80356890GRCh37Chr 17, 41219646: 41219646
246BRCA1NM_007294.3(BRCA1): c.505C> T (p.Gln169Ter)single nucleotide variantPathogenicrs80357133GRCh37Chr 17, 41251834: 41251834
247BRCA1NM_007294.3(BRCA1): c.5080G> T (p.Glu1694Ter)single nucleotide variantPathogenicrs80356896GRCh37Chr 17, 41215963: 41215963
248BRCA1NM_007294.3(BRCA1): c.5095C> T (p.Arg1699Trp)single nucleotide variantPathogenicrs55770810GRCh37Chr 17, 41215948: 41215948
249BRCA1NM_007294.3(BRCA1): c.5109T> G (p.Tyr1703Ter)single nucleotide variantPathogenicrs80356974GRCh37Chr 17, 41215934: 41215934
250BRCA1NM_007294.3(BRCA1): c.5123C> A (p.Ala1708Glu)single nucleotide variantPathogenicrs28897696GRCh37Chr 17, 41215920: 41215920
251BRCA1NM_007294.3(BRCA1): c.5136G> A (p.Trp1712Ter)single nucleotide variantPathogenicrs80357418GRCh37Chr 17, 41215907: 41215907
252BRCA1NM_007294.3(BRCA1): c.5137delG (p.Val1713Terfs)deletionPathogenicrs80357997GRCh37Chr 17, 41215906: 41215906
253BRCA1NM_007294.3(BRCA1): c.514delC (p.Gln172Asnfs)deletionPathogenicrs80357872GRCh37Chr 17, 41251825: 41251825
254BRCA1NM_007294.3(BRCA1): c.5152+1G> Tsingle nucleotide variantPathogenicrs80358094GRCh37Chr 17, 41215890: 41215890
255BRCA1NM_007294.3(BRCA1): c.5154G> A (p.Trp1718Ter)single nucleotide variantPathogenicrs80357239GRCh37Chr 17, 41215389: 41215389
256BRCA1NM_007294.3(BRCA1): c.5165C> T (p.Ser1722Phe)single nucleotide variantLikely pathogenic, Pathogenicrs80357104GRCh37Chr 17, 41215378: 41215378
257BRCA1NM_007294.3(BRCA1): c.5193+2delTdeletionPathogenicrs273901751GRCh37Chr 17, 41215348: 41215348
258BRCA1NM_007294.3(BRCA1): c.520delC (p.Gln174Lysfs)deletionPathogenicrs80357639GRCh37Chr 17, 41251819: 41251819
259BRCA1NM_007294.3(BRCA1): c.5212G> A (p.Gly1738Arg)single nucleotide variantPathogenicrs80356937GRCh37Chr 17, 41209134: 41209134
260BRCA1NM_007294.3(BRCA1): c.5251C> T (p.Arg1751Ter)single nucleotide variantPathogenicrs80357123GRCh37Chr 17, 41209095: 41209095
261BRCA1NM_007294.3(BRCA1): c.5260G> T (p.Glu1754Ter)single nucleotide variantPathogenicrs80357432GRCh37Chr 17, 41209086: 41209086
262BRCA1NM_007294.3(BRCA1): c.5278-1G> Tsingle nucleotide variantPathogenicrs80358099GRCh37Chr 17, 41203135: 41203135
263BRCA1NM_007294.3(BRCA1): c.5319dupC (p.Asn1774Glnfs)duplicationPathogenicrs80357823GRCh37Chr 17, 41203093: 41203093
264BRCA1NM_007294.3(BRCA1): c.5353C> T (p.Gln1785Ter)single nucleotide variantPathogenicrs80356969GRCh37Chr 17, 41201191: 41201191
265BRCA1NM_007294.3(BRCA1): c.5431C> T (p.Gln1811Ter)single nucleotide variantLikely pathogenic, Pathogenicrs397509283GRCh37Chr 17, 41199696: 41199696
266BRCA1NM_007294.3(BRCA1): c.5444G> A (p.Trp1815Ter)single nucleotide variantPathogenicrs80356962GRCh37Chr 17, 41199683: 41199683
267BRCA1NM_007294.3(BRCA1): c.547+1G> Tsingle nucleotide variantLikely pathogenic, Pathogenicrs80358030GRCh37Chr 17, 41251791: 41251791
268BRCA1NM_007294.3(BRCA1): c.5492delC (p.Pro1831Leufs)deletionLikely pathogenic, Pathogenicrs80357582GRCh37Chr 17, 41197795: 41197795
269BRCA1NM_007294.3(BRCA1): c.5497G> A (p.Val1833Met)single nucleotide variantLikely pathogenic, Pathogenicrs80357268GRCh37Chr 17, 41197790: 41197790
270BRCA1NM_007294.3(BRCA1): c.5503C> T (p.Arg1835Ter)single nucleotide variantPathogenicrs41293465GRCh37Chr 17, 41197784: 41197784
271BRCA1NM_007294.3(BRCA1): c.5510G> A (p.Trp1837Ter)single nucleotide variantPathogenicrs80357307GRCh37Chr 17, 41197777: 41197777
272BRCA1NM_007294.3(BRCA1): c.5521delA (p.Ser1841Valfs)deletionPathogenicrs80357721GRCh37Chr 17, 41197766: 41197766
273BRCA1NM_007294.3(BRCA1): c.5558dupA (p.Tyr1853Terfs)duplicationPathogenicrs80357629GRCh37Chr 17, 41197729: 41197729
274BRCA1NM_007294.3(BRCA1): c.685delT (p.Ser229Leufs)deletionPathogenicrs80357824GRCh37Chr 17, 41246863: 41246863
275BRCA1NM_007294.3(BRCA1): c.68_69dupAG (p.Cys24Serfs)duplicationPathogenicrs80357914GRCh37Chr 17, 41276045: 41276046
276BRCA1NM_007294.3(BRCA1): c.70_80delTGTCCCATCTG (p.Cys24Serfs)deletionPathogenicrs80357696GRCh37Chr 17, 41276034: 41276044
277BRCA1NM_007294.3(BRCA1): c.791_794delGTTC (p.Ser264Metfs)deletionPathogenicrs80357707GRCh37Chr 17, 41246754: 41246757
278BRCA1NM_007294.3(BRCA1): c.815_824dupAGCCATGTGG (p.Thr276Alafs)duplicationPathogenicrs387906563GRCh37Chr 17, 41246724: 41246733
279BRCA1NM_007294.3(BRCA1): c.83_84delTG (p.Leu28Argfs)deletionPathogenicrs80357728GRCh37Chr 17, 41267793: 41267794
280BRCA1NM_007294.3(BRCA1): c.850C> T (p.Gln284Ter)single nucleotide variantPathogenicrs397509330GRCh37Chr 17, 41246698: 41246698
281BRCA1NM_007294.3(BRCA1): c.923delG (p.Ser308Thrfs)deletionPathogenicrs80357953GRCh37Chr 17, 41246625: 41246625
282CHEK2CHEK2, 1-BP DEL, 1100CdeletionPathogenic, risk factor
283NBNNM_002485.4(NBN): c.657_661delACAAA (p.Lys219Asnfs)deletionPathogenic, risk factorrs587776650GRCh37Chr 8, 90983442: 90983446
284APCNM_000038.5(APC): c.3920T> A (p.Ile1307Lys)single nucleotide variantPathogenic, risk factorrs1801155GRCh37Chr 5, 112175211: 112175211
285BRCA1NM_007294.3(BRCA1): c.134+2T> Csingle nucleotide variantPathogenicrs80358131GRCh37Chr 17, 41267741: 41267741
286BRCA1NM_007294.3(BRCA1): c.2199delG (p.Lys734Asnfs)deletionPathogenicrs80357944GRCh37Chr 17, 41245349: 41245349
287BRCA1NM_007294.3(BRCA1): c.2902_2903insTC (p.Pro968Leufs)insertionPathogenicrs398122670GRCh37Chr 17, 41244645: 41244646
288BRCA1NM_007294.3(BRCA1): c.2940delA (p.Pro981Hisfs)deletionPathogenicrs80357876GRCh37Chr 17, 41244608: 41244608
289BRCA1NM_007294.3(BRCA1): c.3672delC (p.Cys1225Alafs)deletionPathogenicrs398122677GRCh37Chr 17, 41243876: 41243876
290BRCA1NM_007294.3(BRCA1): c.3761_3762insTT (p.Lys1254Asnfs)insertionPathogenicrs80357928GRCh37Chr 17, 41243786: 41243787
291BRCA1NM_007294.3(BRCA1): c.4354A> T (p.Lys1452Ter)single nucleotide variantPathogenicrs398122685GRCh37Chr 17, 41234424: 41234424
292BRCA1NM_007294.3(BRCA1): c.5193+1G> Tsingle nucleotide variantPathogenicrs80358004GRCh37Chr 17, 41215349: 41215349
293BRCA1NM_007294.3(BRCA1): c.5277+1delGdeletionPathogenicrs273901754GRCh37Chr 17, 41209068: 41209068
294BRCA1NM_007294.3(BRCA1): c.670+1G> Tsingle nucleotide variantLikely pathogenic, Pathogenicrs398122706GRCh37Chr 17, 41247862: 41247862
295BRCA1NM_007294.3(BRCA1): c.81-1G> Asingle nucleotide variantLikely pathogenic, Pathogenicrs80358018GRCh37Chr 17, 41267797: 41267797
296BRCA2NM_000059.3(BRCA2): c.2808_2811del4 (p.Ala938Profs)deletionPathogenicrs80359351GRCh37Chr 13, 32911300: 32911303
297BRCA2NM_000059.3(BRCA2): c.658_659delGT (p.Val220Ilefs)deletionPathogenicrs80359604GRCh37Chr 13, 32903606: 32903607
298BRCA2NM_000059.3(BRCA2): c.9196C> T (p.Gln3066Ter)single nucleotide variantPathogenicrs80359180GRCh37Chr 13, 32954222: 32954222
299BRCA2NM_000059.3(BRCA2): c.7985C> A (p.Thr2662Lys)single nucleotide variantPathogenicrs431825362GRCh37Chr 13, 32937324: 32937324
300BRCA1NM_007294.3(BRCA1): c.2001dupA (p.Leu668Thrfs)duplicationPathogenicrs80357521GRCh37Chr 17, 41245547: 41245547
301BRCA1NM_007294.3(BRCA1): c.4986+5G> Asingle nucleotide variantLikely pathogenic, Pathogenicrs397509211GRCh37Chr 17, 41222940: 41222940

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

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

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

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Pathways related to Brca1 Hereditary Breast and Ovarian Cancer Syndrome according to GeneCards Suite gene sharing:

(show all 21)
idSuper pathwaysScoreTop Affiliating Genes
19.4BRCA2, CHEK2
29.2BRCA1, NBN
39.2BRCA1, NBN
49.2BRCA2, NBN
5
Show member pathways
9.1BRCA1, BRCA2, PALB2
69.0BRCA1, BRCA2, CHEK2
7
Show member pathways
8.8BRCA1, BRCA2, NBN
8
Show member pathways
8.6BRCA1, CHEK2, NBN
9
Show member pathways
8.6BRCA1, CHEK2, NBN
108.6BRCA1, CHEK2, NBN
118.6BRCA1, CHEK2, NBN
12
Show member pathways
8.6BRCA1, CHEK2, NBN
13
Show member pathways
8.6BRCA1, CHEK2, NBN
148.5APC, BRCA1, BRCA2, CHEK2
15
Show member pathways
8.3BRCA1, BRCA2, NBN, PALB2
16
Show member pathways
8.3BRCA1, BRCA2, NBN, PALB2
17
Show member pathways
8.2BRCA1, BRCA2, CHEK2, NBN
18
Show member pathways
8.2BRCA1, BRCA2, CHEK2, NBN
19
Show member pathways
8.2BRCA1, BRCA2, CHEK2, NBN
20
Show member pathways
8.2BRCA1, BRCA2, CHEK2, NBN
21
Show member pathways
7.6BRCA1, BRCA2, CHEK2, NBN, PALB2

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

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Cellular components related to Brca1 Hereditary Breast and Ovarian Cancer Syndrome according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1PML bodyGO:00166059.5CHEK2, NBN
2nucleoplasmGO:00056547.1APC, BRCA1, BRCA2, CHEK2, NBN, PALB2

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

(show all 17)
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
3inner cell mass cell proliferationGO:000183310.0BRCA2, PALB2
4response to nutrientGO:00075849.9BRCA1, BRCA2
5response to gamma radiationGO:00103329.7BRCA2, CHEK2
6multicellular organism growthGO:00352649.6BRCA2, PALB2
7chromosome breakageGO:00310529.6BRCA1, BRCA2, PALB2
8DNA damage checkpointGO:00000779.4CHEK2, NBN
9double-strand break repair via nonhomologous end joiningGO:00063039.4BRCA1, NBN
10intrinsic apoptotic signaling pathway in response to DNA damageGO:00086309.3BRCA1, BRCA2, CHEK2
11DNA double-strand break processingGO:00007298.9BRCA1, NBN
12double-strand break repair via homologous recombinationGO:00007248.8BRCA1, BRCA2, NBN, PALB2
13regulation of signal transduction by p53 class mediatorGO:19017968.6BRCA1, CHEK2, NBN
14cellular response to DNA damage stimulusGO:00069748.5APC, BRCA1, BRCA2, CHEK2
15double-strand break repairGO:00063028.3BRCA1, BRCA2, CHEK2, NBN
16strand displacementGO:00007328.3BRCA1, BRCA2, NBN, PALB2
17DNA synthesis involved in DNA repairGO:00007318.2BRCA1, BRCA2, NBN, PALB2

Molecular functions related to Brca1 Hereditary Breast and Ovarian Cancer Syndrome according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1damaged DNA bindingGO:00036849.2BRCA1, NBN

Sources for Brca1 Hereditary Breast and Ovarian Cancer Syndrome

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