MCID: BRC084
MIFTS: 39

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 45
Familial Susceptibility to Breast-Ovarian Cancer 1 45 24
Brca1 Hereditary Breast and Ovarian Cancer 22
 
Breast Cancer 22
Brovca1 45

Classifications:



Summaries for Brca1 Hereditary Breast and Ovarian Cancer Syndrome

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NIH Rare Diseases:45 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 positive breast cancer and breast cancer. An important gene associated with Brca1 Hereditary Breast and Ovarian Cancer Syndrome is BRCA1 (Breast Cancer 1), and among its related pathways are FOXM1 transcription factor network and GADD45 Pathway. Affiliated tissues include breast, prostate and cervix, and related mouse phenotypes are limbs/digits/tail and embryo.

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 3489)
idRelated DiseaseScoreTop Affiliating Genes
1estrogen-receptor positive breast cancer33.7BRCA1, BRCA2
2breast cancer32.4APC, ATM, BRCA1, BRCA2, CHEK2, PALB2
3breast cancer, childhood31.5APC, ATM, BRCA1, BRCA2, CHEK2, PALB2
4bronchiolitis obliterans30.6BRCA1, BRCA2
5mastitis30.5BRCA1, BRCA2
6cystadenoma30.5BRCA1, BRCA2
7brca2 hereditary breast and ovarian cancer syndrome30.5APC, ATM, BRCA1, BRCA2, CHEK2, PALB2
8vascular dementia30.3BRCA1, BRCA2
9prostate cancer29.7ATM, BRCA1, BRCA2, CHEK2
10uterine carcinosarcoma29.7BRCA1, BRCA2
11placental insufficiency29.6APC, BRCA1, BRCA2
12dyskinetic cerebral palsy29.2ATM, BRCA2
13choroid plexus papilloma29.0ATM, BRCA1, BRCA2, CHEK2
14adrenal cortical carcinoma28.4ATM, BRCA1, BRCA2, PALB2
15familial breast cancer12.7
16bilateral breast cancer12.5
17sporadic breast cancer12.4
18estrogen-receptor negative breast cancer12.4
19female breast cancer12.4
20androgen insensitivity, partial, with or without breast cancer12.3
21progesterone-receptor positive breast cancer12.3
22progesterone-receptor negative breast cancer12.3
23her2-receptor positive breast cancer12.3
24her2-receptor negative breast cancer12.3
25triple-receptor negative breast cancer12.3
26bard1-related susceptibility to breast cancer12.2
27brip1-related breast cancer12.2
28chek2-related susceptibility to breast cancer12.2
29rad51-related susceptibility to breast cancer12.2
30inflammatory breast carcinoma12.0
31gastric cancer risk after h. pylori infection11.7
32breast metaplastic carcinoma11.6
33breast-ovarian cancer, familial, 211.6
34breast-ovarian cancer, familial 411.6
35breast-ovarian cancer, familial, 111.6
36breast-ovarian cancer, familial 311.6
37obesity11.3
38luminal breast carcinoma11.2
39rare malignant breast tumor11.2
40renal cell carcinoma11.1
41adenocarcinoma11.1
42psoriasis11.1
43cervical squamous cell carcinoma11.1
44li-fraumeni syndrome10.9
45hepatosplenic t-cell lymphoma10.9
46chronic interstitial cystitis10.9
47leukemia10.9
48endotheliitis10.8
49lymphoma10.8
50prostatitis10.8

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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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 16)
idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1
OlaparibapprovedPhase 1, Phase 2104763113-22-023725625
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
2Poly(ADP-ribose) Polymerase InhibitorsPhase 1, Phase 2250
3AntibodiesPhase 1, Phase 24477
4ImmunoglobulinsPhase 1, Phase 24477
5
tremelimumabPhase 1, Phase 258
Synonyms:
206
CP675
 
CP675206
Ticilimumab
tremelimumab
6Antibodies, MonoclonalPhase 1, Phase 22413
7Immunologic FactorsPhase 1, Phase 218483
8
PaclitaxelapprovedPhase 1262133069-62-436314
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
9
CarboplatinapprovedPhase 1188541575-94-410339178, 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+)
10
VeliparibPhase 18811960529
Synonyms:
ABT 888
 
ABT-888
Veliparib
veliparib
11Tubulin ModulatorsPhase 14279
12Albumin-Bound PaclitaxelPhase 12621
13Antineoplastic Agents, PhytogenicPhase 14294
14Antimitotic AgentsPhase 14296
15
Pancrelipaseapproved88053608-75-6
Synonyms:
1,4-alpha-D- glucan glucanohydrolase
Creon
PA
Pancreatic alpha-amylase precursor
Pancreaze
 
Pancrelipase
Pertzye
Polocaine-mpf
Ultresa
Viokace
Zenpep
16pancreatin880

Interventional clinical trials:

(show all 21)
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 Did 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
14Genetic Counseling for Breast Cancer Survivors (GC for BC)RecruitingNCT02451735
15Pancreatic Cancer GeneticsRecruitingNCT01102569
16Culturally-Informed Counseling in Latinas at High Risk for Hereditary Breast or Ovarian CancerRecruitingNCT01230346
17C-PATROL - Non-interventional Study (NIS) to Collect Clinical and Patient Reported Outcome Data in an Olaparib Treated BRCAm+ PSR Ovarian Cancer PopulationRecruitingNCT02503436
18Feasibility of Lifestyle Intervention in BRCA1/2 Mutation CarriersActive, not recruitingNCT02087592
19Clinical, Genetic, Behavioral, Laboratory and Epidemiologic Characterization of Individuals and Families at High Risk of Breast/Ovarian CancerActive, not recruitingNCT00040222
20Women at Risk of Breast Cancer and OLFM4Not yet recruitingNCT02653105
21Family 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 Brca1 Hereditary Breast and Ovarian Cancer22 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:

33
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:

38 (show all 17)
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053719.0APC, BRCA1, BRCA2, PALB2
2MP:00053808.2APC, ATM, BRCA1, BRCA2, PALB2
3MP:00107718.2APC, ATM, BRCA1, BRCA2, PALB2
4MP:00036318.1APC, ATM, BRCA1, BRCA2, PALB2
5MP:00053877.7APC, ATM, BRCA1, BRCA2, CHEK2
6MP:00053977.6APC, ATM, BRCA1, BRCA2, CHEK2
7MP:00020067.6APC, ATM, BRCA1, BRCA2, CHEK2, PALB2
8MP:00053847.4APC, ATM, BRCA1, BRCA2, CHEK2, PALB2
9MP:00107687.3APC, ATM, BRCA1, BRCA2, CHEK2, 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 155)
id Gene Variation Type Significance SNP ID Assembly Location
1PALB2NM_024675.3(PALB2): c.3549C> G (p.Tyr1183Ter)single nucleotide variantPathogenic, 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.4676-1G> Asingle nucleotide variantLikely pathogenic, Pathogenicrs80358008GRCh38Chr 17, 43071239: 43071239
5PALB2NM_024675.3(PALB2): c.1027C> T (p.Gln343Ter)single nucleotide variantPathogenic, risk factorrs180177097GRCh38Chr 16, 23635519: 23635519
6PALB2NM_024675.3(PALB2): c.3116delA (p.Asn1039Ilefs)deletionPathogenic, risk factorrs180177133GRCh38Chr 16, 23614089: 23614089
7BRCA2NM_000059.3(BRCA2): c.1909+1G> Asingle nucleotide variantLikely pathogenic, Pathogenicrs587781629GRCh37Chr 13, 32907525: 32907525
8BRCA1NM_007294.3(BRCA1): c.181T> G (p.Cys61Gly)single nucleotide variantPathogenicrs28897672GRCh37Chr 17, 41258504: 41258504
9BRCA1NM_007294.3(BRCA1): c.68_69delAG (p.Glu23Valfs)deletionPathogenic, risk factorrs386833395GRCh37Chr 17, 41276047: 41276048
10BRCA1NM_007294.3(BRCA1): c.1175_1214del40 (p.Leu392Glnfs)deletionLikely pathogenic, Pathogenicrs80359874GRCh37Chr 17, 41246334: 41246373
11BRCA1NM_007294.3(BRCA1): c.2681_2682delAA (p.Lys894Thrfs)deletionPathogenicrs80357971GRCh37Chr 17, 41244866: 41244867
12BRCA1NM_007294.3(BRCA1): c.3005delA (p.Asn1002Thrfs)deletionPathogenicrs80357601GRCh38Chr 17, 43092526: 43092526
13BRCA1NM_007294.3(BRCA1): c.3607C> T (p.Arg1203Ter)single nucleotide variantPathogenicrs62625308GRCh37Chr 17, 41243941: 41243941
14BRCA1NM_007294.3(BRCA1): c.3748G> T (p.Glu1250Ter)single nucleotide variantPathogenicrs28897686GRCh37Chr 17, 41243800: 41243800
15BRCA1NM_007294.3(BRCA1): c.3756_3759delGTCT (p.Ser1253Argfs)deletionLikely pathogenic, Pathogenicrs80357868GRCh37Chr 17, 41243789: 41243792
16BRCA1NM_007294.3(BRCA1): c.4065_4068delTCAA (p.Asn1355Lysfs)deletionLikely pathogenic, Pathogenicrs80357508GRCh37Chr 17, 41243480: 41243483
17BRCA1NM_007294.3(BRCA1): c.4327C> T (p.Arg1443Ter)single nucleotide variantPathogenicrs41293455GRCh37Chr 17, 41234451: 41234451
18BRCA1NM_007294.3(BRCA1): c.5266dupC (p.Gln1756Profs)duplicationPathogenic, risk factorrs80357906GRCh37Chr 17, 41209082: 41209082
19BRCA1NM_007294.3(BRCA1): c.3481_3491delGAAGATACTAG (p.Glu1161Phefs)deletionPathogenicrs80357877GRCh37Chr 17, 41244057: 41244067
20BRCA1NM_007294.3(BRCA1): c.211A> G (p.Arg71Gly)single nucleotide variantLikely pathogenic, Pathogenicrs80357382GRCh37Chr 17, 41258474: 41258474
21BRCA1NM_007294.3(BRCA1): c.5324T> G (p.Met1775Arg)single nucleotide variantPathogenicrs41293463GRCh37Chr 17, 41203088: 41203088
22ATMNM_000051.3(ATM): c.7271T> G (p.Val2424Gly)single nucleotide variantPathogenic, risk factorrs28904921GRCh37Chr 11, 108199929: 108199929
23BRCA1NM_007294.3(BRCA1): c.116G> T (p.Cys39Phe)single nucleotide variantPathogenicrs80357498GRCh37Chr 17, 41267761: 41267761
24BRCA1NM_007294.3(BRCA1): c.143delT (p.Met48Serfs)deletionPathogenicrs80357637GRCh37Chr 17, 41258542: 41258542
25BRCA1NM_007294.3(BRCA1): c.1444_1447delATTA (p.Ile482Terfs)deletionPathogenicrs80357801GRCh37Chr 17, 41246101: 41246104
26BRCA1NM_007294.3(BRCA1): c.1674delA (p.Gly559Valfs)deletionPathogenicrs80357600GRCh37Chr 17, 41245874: 41245874
27BRCA1NM_007294.3(BRCA1): c.1687C> T (p.Gln563Ter)single nucleotide variantPathogenicrs80356898GRCh37Chr 17, 41245861: 41245861
28BRCA1NM_007294.3(BRCA1): c.1953_1956delGAAA (p.Lys653Serfs)deletionPathogenicrs80357526GRCh37Chr 17, 41245592: 41245595
29BRCA1NM_007294.3(BRCA1): c.1960A> T (p.Lys654Ter)single nucleotide variantPathogenicrs80357355GRCh37Chr 17, 41245588: 41245588
30BRCA1NM_007294.3(BRCA1): c.1961delA (p.Lys654Serfs)deletionPathogenicrs80357522GRCh37Chr 17, 41245587: 41245587
31BRCA1NM_007294.3(BRCA1): c.2071delA (p.Arg691Aspfs)deletionPathogenicrs80357688GRCh37Chr 17, 41245477: 41245477
32BRCA1NM_007294.3(BRCA1): c.213-11T> Gsingle nucleotide variantPathogenicrs80358061GRCh37Chr 17, 41256984: 41256984
33BRCA1NM_007294.3(BRCA1): c.213-12A> Gsingle nucleotide variantPathogenicrs80358163GRCh37Chr 17, 41256985: 41256985
34BRCA1NM_007294.3(BRCA1): c.2138C> G (p.Ser713Ter)single nucleotide variantPathogenicrs80357233GRCh37Chr 17, 41245410: 41245410
35BRCA1NM_007294.3(BRCA1): c.2411_2412delAG (p.Gln804Leufs)deletionPathogenicrs80357664GRCh37Chr 17, 41245136: 41245137
36BRCA1NM_007294.3(BRCA1): c.2433delC (p.Lys812Argfs)deletionPathogenicrs80357524GRCh37Chr 17, 41245115: 41245115
37BRCA1NM_007294.3(BRCA1): c.2457delC (p.Asp821Ilefs)deletionPathogenicrs80357669GRCh37Chr 17, 41245091: 41245091
38BRCA1NM_007294.3(BRCA1): c.2475delC (p.Asp825Glufs)deletionPathogenicrs80357970GRCh37Chr 17, 41245073: 41245073
39BRCA1NM_007294.3(BRCA1): c.2635G> T (p.Glu879Ter)single nucleotide variantPathogenicrs80357251GRCh37Chr 17, 41244913: 41244913
40BRCA1NM_007294.3(BRCA1): c.2679_2682delGAAA (p.Lys893Asnfs)deletionLikely pathogenic, Pathogenicrs80357596GRCh37Chr 17, 41244866: 41244869
41BRCA1NM_007294.3(BRCA1): c.2806_2809delGATA (p.Asp936Serfs)deletionPathogenicrs80357832GRCh37Chr 17, 41244739: 41244742
42BRCA1NM_007294.3(BRCA1): c.2934T> G (p.Tyr978Ter)single nucleotide variantPathogenicrs80357115GRCh37Chr 17, 41244614: 41244614
43BRCA1NM_007294.3(BRCA1): c.3331_3334delCAAG (p.Gln1111Asnfs)deletionPathogenicrs80357701GRCh37Chr 17, 41244214: 41244217
44BRCA1NM_007294.3(BRCA1): c.3400G> T (p.Glu1134Ter)single nucleotide variantPathogenicrs80357018GRCh37Chr 17, 41244148: 41244148
45BRCA1NM_007294.3(BRCA1): c.3485delA (p.Asp1162Valfs)deletionPathogenicrs80357509GRCh37Chr 17, 41244063: 41244063
46BRCA1NM_007294.3(BRCA1): c.3627dupA (p.Glu1210Argfs)duplicationPathogenicrs80357729GRCh37Chr 17, 41243921: 41243921
47BRCA1NM_007294.3(BRCA1): c.3700_3704delGTAAA (p.Val1234Glnfs)deletionPathogenicrs80357609GRCh37Chr 17, 41243844: 41243848
48BRCA1NM_007294.3(BRCA1): c.3764dupA (p.Asn1255Lysfs)duplicationPathogenicrs80357848GRCh37Chr 17, 41243784: 41243784
49BRCA1NM_007294.3(BRCA1): c.3770_3771delAG (p.Glu1257Glyfs)deletionPathogenicrs80357579GRCh37Chr 17, 41243777: 41243778
50BRCA1NM_007294.3(BRCA1): c.3858_3861delTGAG (p.Ser1286Argfs)deletionPathogenicrs80357842GRCh37Chr 17, 41243687: 41243690
51BRCA1NM_007294.3(BRCA1): c.4035delA (p.Glu1346Lysfs)deletionPathogenicrs80357711GRCh37Chr 17, 41243513: 41243513
52BRCA1NM_007294.3(BRCA1): c.4096+1G> Asingle nucleotide variantLikely pathogenic, Pathogenicrs80358178GRCh37Chr 17, 41243451: 41243451
53BRCA1NM_007294.3(BRCA1): c.4096+3A> Gsingle nucleotide variantLikely pathogenic, Pathogenicrs80358015GRCh37Chr 17, 41243449: 41243449
54BRCA1NM_007294.3(BRCA1): c.4117G> T (p.Glu1373Ter)single nucleotide variantPathogenicrs80357259GRCh37Chr 17, 41243029: 41243029
55BRCA1NM_007294.3(BRCA1): c.427G> T (p.Glu143Ter)single nucleotide variantPathogenicrs80356991GRCh37Chr 17, 41256153: 41256153
56BRCA1NM_007294.3(BRCA1): c.4357+1G> Asingle nucleotide variantPathogenicrs80358027GRCh37Chr 17, 41234420: 41234420
57BRCA1NM_007294.3(BRCA1): c.4391_4393delCTAinsTT (p.Pro1464Leufs)indelPathogenicrs273900730GRCh37Chr 17, 41228596: 41228598
58BRCA1NM_007294.3(BRCA1): c.4484G> T (p.Arg1495Met)single nucleotide variantPathogenicrs80357389GRCh37Chr 17, 41228505: 41228505
59BRCA1NM_007294.3(BRCA1): c.4689C> G (p.Tyr1563Ter)single nucleotide variantPathogenicrs80357433GRCh37Chr 17, 41223242: 41223242
60BRCA1NM_007294.3(BRCA1): c.470_471delCT (p.Ser157Terfs)deletionPathogenicrs80357887GRCh37Chr 17, 41251868: 41251869
61BRCA1NM_007294.3(BRCA1): c.4964_4982del19 (p.Ser1655Tyrfs)deletionLikely pathogenic, Pathogenicrs80359876GRCh37Chr 17, 41222949: 41222967
62BRCA1NM_007294.3(BRCA1): c.4986+6T> Csingle nucleotide variantLikely pathogenic, Pathogenicrs80358086GRCh37Chr 17, 41222939: 41222939
63BRCA1NM_007294.3(BRCA1): c.5030_5033delCTAA (p.Thr1677Ilefs)deletionPathogenicrs80357580GRCh37Chr 17, 41219666: 41219669
64BRCA1NM_007294.3(BRCA1): c.5096G> A (p.Arg1699Gln)single nucleotide variantLikely pathogenic, Pathogenicrs41293459GRCh37Chr 17, 41215947: 41215947
65BRCA1NM_007294.3(BRCA1): c.5177_5180delGAAA (p.Arg1726Lysfs)deletionPathogenicrs80357867GRCh37Chr 17, 41215363: 41215366
66BRCA1NM_007294.3(BRCA1): c.5179A> T (p.Lys1727Ter)single nucleotide variantPathogenicrs80357347GRCh37Chr 17, 41215364: 41215364
67BRCA1NM_007294.3(BRCA1): c.5207T> C (p.Val1736Ala)single nucleotide variantLikely pathogenic, Pathogenicrs45553935GRCh37Chr 17, 41209139: 41209139
68BRCA1NM_007294.3(BRCA1): c.5259delA (p.Glu1754Asnfs)deletionPathogenicrs80357925GRCh37Chr 17, 41209087: 41209087
69BRCA1NM_007294.3(BRCA1): c.5335delC (p.Gln1779Asnfs)deletionPathogenicrs80357590GRCh37Chr 17, 41201209: 41201209
70BRCA1NM_007294.3(BRCA1): c.5387C> A (p.Ser1796Ter)single nucleotide variantPathogenicrs80357055GRCh37Chr 17, 41201157: 41201157
71BRCA1NM_007294.3(BRCA1): c.547+2T> Asingle nucleotide variantPathogenicrs80358047GRCh37Chr 17, 41251790: 41251790
72BRCA1NM_007294.3(BRCA1): c.594-2A> Csingle nucleotide variantLikely pathogenic, Pathogenicrs80358033GRCh37Chr 17, 41247941: 41247941
73BRCA1NM_007294.3(BRCA1): c.66dupA (p.Glu23Argfs)duplicationPathogenicrs80357783GRCh37Chr 17, 41276048: 41276048
74BRCA1NM_007294.3(BRCA1): c.676delT (p.Cys226Valfs)deletionPathogenicrs80357941GRCh37Chr 17, 41246872: 41246872
75BRCA1NM_007294.3(BRCA1): c.798_799delTT (p.Ser267Lysfs)deletionLikely pathogenic, Pathogenicrs80357724GRCh37Chr 17, 41246749: 41246750
76BRCA1NM_007294.3(BRCA1): c.962G> A (p.Trp321Ter)single nucleotide variantPathogenicrs80357292GRCh37Chr 17, 41246586: 41246586
77BRCA2NM_000059.3(BRCA2): c.5035delA (p.Thr1679Leufs)deletionPathogenicrs80359477GRCh37Chr 13, 32913527: 32913527
78BRCA2NM_000059.3(BRCA2): c.8297delC (p.Thr2766Asnfs)deletionPathogenicrs80359705GRCh37Chr 13, 32937636: 32937636
79BRCA2NM_000059.3(BRCA2): c.9097dupA (p.Thr3033Asnfs)duplicationPathogenicrs397507419GRCh37Chr 13, 32954030: 32954030
80BRCA2NM_000059.3(BRCA2): c.9294C> G (p.Tyr3098Ter)single nucleotide variantPathogenicrs80359200GRCh37Chr 13, 32968863: 32968863
81BRCA2NM_000059.3(BRCA2): c.9435_9436delGT (p.Ser3147Cysfs)deletionPathogenicrs80359763GRCh37Chr 13, 32969004: 32969005
82BRCA2NM_000059.3(BRCA2): c.5130_5133delTGTA (p.Tyr1710Terfs)deletionPathogenicrs80359484GRCh37Chr 13, 32913622: 32913625
83BRCA2NM_000059.3(BRCA2): c.7558C> T (p.Arg2520Ter)single nucleotide variantPathogenicrs80358981GRCh37Chr 13, 32930687: 32930687
84BRCA2NM_000059.3(BRCA2): c.9154C> T (p.Arg3052Trp)single nucleotide variantPathogenicrs45580035GRCh37Chr 13, 32954180: 32954180
85BRCA1NM_007294.3(BRCA1): c.1011dupA (p.Val340Glyfs)duplicationPathogenicrs80357569GRCh37Chr 17, 41246532: 41246532
86BRCA1NM_007294.3(BRCA1): c.112_113delAA (p.Lys38Valfs)deletionPathogenicrs80357949GRCh37Chr 17, 41267764: 41267765
87BRCA1NM_007294.3(BRCA1): c.1204delG (p.Glu402Serfs)deletionPathogenicrs80357859GRCh37Chr 17, 41246344: 41246344
88BRCA1NM_007294.3(BRCA1): c.1439dupA (p.Asn480Lysfs)duplicationPathogenicrs80357505GRCh37Chr 17, 41246109: 41246109
89BRCA1NM_007294.3(BRCA1): c.1551delT (p.Phe517Leufs)deletionPathogenicrs80357630GRCh37Chr 17, 41245997: 41245997
90BRCA1NM_007294.3(BRCA1): c.1793T> A (p.Leu598Ter)single nucleotide variantPathogenicrs80357118GRCh37Chr 17, 41245755: 41245755
91BRCA1NM_007294.3(BRCA1): c.1874_1877dupTAGT (p.Val627Serfs)duplicationPathogenicrs80357516GRCh37Chr 17, 41245671: 41245674
92BRCA1NM_007294.3(BRCA1): c.1881_1884delCAGT (p.Ser628Glufs)deletionPathogenicrs80357567GRCh37Chr 17, 41245664: 41245667
93BRCA1NM_007294.3(BRCA1): c.1892dupT (p.Ser632Lysfs)duplicationPathogenicrs80357932GRCh37Chr 17, 41245656: 41245656
94BRCA1NM_007294.3(BRCA1): c.1961dupA (p.Tyr655Valfs)duplicationPathogenicrs80357853GRCh37Chr 17, 41245587: 41245587
95BRCA1NM_007294.3(BRCA1): c.2019delA (p.Glu673Aspfs)deletionPathogenicrs80357626GRCh37Chr 17, 41245529: 41245529
96BRCA1NM_007294.3(BRCA1): c.2035A> T (p.Lys679Ter)single nucleotide variantPathogenicrs80357082GRCh37Chr 17, 41245513: 41245513
97BRCA1NM_007294.3(BRCA1): c.2110_2111delAA (p.Asn704Cysfs)deletionPathogenicrs80357814GRCh37Chr 17, 41245437: 41245438
98BRCA1NM_007294.3(BRCA1): c.2157dupA (p.Glu720Argfs)duplicationPathogenicrs80357715GRCh37Chr 17, 41245391: 41245391
99BRCA1NM_007294.3(BRCA1): c.2309C> A (p.Ser770Ter)single nucleotide variantPathogenicrs80357063GRCh37Chr 17, 41245239: 41245239
100BRCA1NM_007294.3(BRCA1): c.2338C> T (p.Gln780Ter)single nucleotide variantPathogenicrs80356945GRCh37Chr 17, 41245210: 41245210
101BRCA1NM_007294.3(BRCA1): c.2443delA (p.Ile815Phefs)deletionPathogenicrs80357598GRCh37Chr 17, 41245105: 41245105
102BRCA1NM_007294.3(BRCA1): c.2594delA (p.Lys865Serfs)deletionPathogenicrs80357756GRCh37Chr 17, 41244954: 41244954
103BRCA1NM_007294.3(BRCA1): c.2722G> T (p.Glu908Ter)single nucleotide variantPathogenicrs80356978GRCh37Chr 17, 41244826: 41244826
104BRCA1NM_007294.3(BRCA1): c.2726dupA (p.Asn909Lysfs)duplicationPathogenicrs80357685GRCh37Chr 17, 41244822: 41244822
105BRCA1NM_007294.3(BRCA1): c.2727_2730delTCAA (p.Asn909Lysfs)deletionPathogenicrs80357605GRCh37Chr 17, 41244818: 41244821
106BRCA1NM_007294.3(BRCA1): c.2834_2836delGTAinsC (p.Ser945Thrfs)indelPathogenicrs386134270GRCh37Chr 17, 41244712: 41244714
107BRCA1NM_007294.3(BRCA1): c.2866_2870delTCTCA (p.Ser956Valfs)deletionPathogenicrs80357819GRCh37Chr 17, 41244678: 41244682
108BRCA1NM_007294.3(BRCA1): c.2999delA (p.Glu1000Glyfs)deletionPathogenicrs80357991GRCh37Chr 17, 41244549: 41244549
109BRCA1NM_007294.3(BRCA1): c.302-2delAdeletionPathogenicrs273899695GRCh37Chr 17, 41256280: 41256280
110BRCA1NM_007294.3(BRCA1): c.303T> G (p.Tyr101Ter)single nucleotide variantPathogenicrs80356936GRCh37Chr 17, 41256277: 41256277
111BRCA1NM_007294.3(BRCA1): c.3048_3052dupTGAGA (p.Asn1018Metfs)duplicationPathogenicrs80357856GRCh37Chr 17, 41244496: 41244500
112BRCA1NM_007294.3(BRCA1): c.3084_3094delTAATAACATTA (p.Asn1029Argfs)deletionPathogenicrs80357647GRCh37Chr 17, 41244454: 41244464
113BRCA1NM_007294.3(BRCA1): c.3257T> G (p.Leu1086Ter)single nucleotide variantPathogenicrs80357006GRCh37Chr 17, 41244291: 41244291
114BRCA1NM_007294.3(BRCA1): c.329dupA (p.Glu111Glyfs)duplicationPathogenicrs80357604GRCh37Chr 17, 41256251: 41256251
115BRCA1NM_007294.3(BRCA1): c.3331C> T (p.Gln1111Ter)single nucleotide variantPathogenicrs80357089GRCh37Chr 17, 41244217: 41244217
116BRCA1NM_007294.3(BRCA1): c.3598C> T (p.Gln1200Ter)single nucleotide variantPathogenicrs62625307GRCh37Chr 17, 41243950: 41243950
117BRCA1NM_007294.3(BRCA1): c.3661G> T (p.Glu1221Ter)single nucleotide variantPathogenicrs80357310GRCh37Chr 17, 41243887: 41243887
118BRCA1NM_007294.3(BRCA1): c.3668_3671dupTTCC (p.Cys1225Serfs)duplicationPathogenicrs80357797GRCh37Chr 17, 41243877: 41243880
119BRCA1NM_007294.3(BRCA1): c.3718C> T (p.Gln1240Ter)single nucleotide variantPathogenicrs80356903GRCh37Chr 17, 41243830: 41243830
120BRCA1NM_007294.3(BRCA1): c.3841C> T (p.Gln1281Ter)single nucleotide variantPathogenicrs80356866GRCh37Chr 17, 41243707: 41243707
121BRCA1NM_007294.3(BRCA1): c.390C> A (p.Tyr130Ter)single nucleotide variantPathogenicrs80356888GRCh37Chr 17, 41256190: 41256190
122BRCA1NM_007294.3(BRCA1): c.4165_4166delAG (p.Ser1389Terfs)deletionPathogenicrs80357572GRCh37Chr 17, 41242980: 41242981
123BRCA1NM_007294.3(BRCA1): c.4524G> A (p.Trp1508Ter)single nucleotide variantPathogenicrs80356885GRCh37Chr 17, 41226499: 41226499
124BRCA1NM_007294.3(BRCA1): c.4611_4612insG (p.Gln1538Alafs)insertionPathogenicrs80357915GRCh37Chr 17, 41226411: 41226412
125BRCA1NM_007294.3(BRCA1): c.4612C> T (p.Gln1538Ter)single nucleotide variantPathogenicrs80356992GRCh37Chr 17, 41226411: 41226411
126BRCA1NM_007294.3(BRCA1): c.4941delC (p.Asn1647Lysfs)deletionPathogenicrs80357905GRCh37Chr 17, 41222990: 41222990
127BRCA1NM_007294.3(BRCA1): c.4986+3G> Csingle nucleotide variantPathogenicrs80358023GRCh37Chr 17, 41222942: 41222942
128BRCA1NM_007294.3(BRCA1): c.505C> T (p.Gln169Ter)single nucleotide variantPathogenicrs80357133GRCh37Chr 17, 41251834: 41251834
129BRCA1NM_007294.3(BRCA1): c.5080G> T (p.Glu1694Ter)single nucleotide variantPathogenicrs80356896GRCh37Chr 17, 41215963: 41215963
130BRCA1NM_007294.3(BRCA1): c.5095C> T (p.Arg1699Trp)single nucleotide variantPathogenicrs55770810GRCh37Chr 17, 41215948: 41215948
131BRCA1NM_007294.3(BRCA1): c.5109T> G (p.Tyr1703Ter)single nucleotide variantPathogenicrs80356974GRCh37Chr 17, 41215934: 41215934
132BRCA1NM_007294.3(BRCA1): c.5123C> A (p.Ala1708Glu)single nucleotide variantPathogenicrs28897696GRCh37Chr 17, 41215920: 41215920
133BRCA1NM_007294.3(BRCA1): c.5137delG (p.Val1713Terfs)deletionPathogenicrs80357997GRCh37Chr 17, 41215906: 41215906
134BRCA1NM_007294.3(BRCA1): c.5152+1G> Tsingle nucleotide variantPathogenicrs80358094GRCh37Chr 17, 41215890: 41215890
135BRCA1NM_007294.3(BRCA1): c.5251C> T (p.Arg1751Ter)single nucleotide variantPathogenicrs80357123GRCh37Chr 17, 41209095: 41209095
136BRCA1NM_007294.3(BRCA1): c.5260G> T (p.Glu1754Ter)single nucleotide variantPathogenicrs80357432GRCh37Chr 17, 41209086: 41209086
137BRCA1NM_007294.3(BRCA1): c.5319dupC (p.Asn1774Glnfs)duplicationPathogenicrs80357823GRCh37Chr 17, 41203093: 41203093
138BRCA1NM_007294.3(BRCA1): c.5353C> T (p.Gln1785Ter)single nucleotide variantPathogenicrs80356969GRCh37Chr 17, 41201191: 41201191
139BRCA1NM_007294.3(BRCA1): c.5444G> A (p.Trp1815Ter)single nucleotide variantPathogenicrs80356962GRCh37Chr 17, 41199683: 41199683
140BRCA1NM_007294.3(BRCA1): c.5503C> T (p.Arg1835Ter)single nucleotide variantLikely pathogenic, Pathogenicrs41293465GRCh37Chr 17, 41197784: 41197784
141BRCA1NM_007294.3(BRCA1): c.5558dupA (p.Tyr1853Terfs)duplicationPathogenicrs80357629GRCh37Chr 17, 41197729: 41197729
142BRCA1NM_007294.3(BRCA1): c.685delT (p.Ser229Leufs)deletionPathogenicrs80357824GRCh37Chr 17, 41246863: 41246863
143BRCA1NM_007294.3(BRCA1): c.815_824dupAGCCATGTGG (p.Thr276Alafs)duplicationPathogenicrs387906563GRCh37Chr 17, 41246724: 41246733
144CHEK2CHEK2, 1-BP DEL, 1100CdeletionPathogenic, risk factor
145APCNM_000038.5(APC): c.3920T> A (p.Ile1307Lys)single nucleotide variantPathogenic, risk factorrs1801155GRCh37Chr 5, 112175211: 112175211
146BRCA1NM_007294.3(BRCA1): c.2902_2903insTC (p.Pro968Leufs)insertionPathogenicrs398122670GRCh37Chr 17, 41244645: 41244646
147BRCA1NM_007294.3(BRCA1): c.2940delA (p.Pro981Hisfs)deletionPathogenicrs80357876GRCh37Chr 17, 41244608: 41244608
148BRCA1NM_007294.3(BRCA1): c.3672delC (p.Cys1225Alafs)deletionPathogenicrs398122677GRCh37Chr 17, 41243876: 41243876
149BRCA1NM_007294.3(BRCA1): c.3761_3762insTT (p.Lys1254Asnfs)insertionPathogenicrs80357928GRCh37Chr 17, 41243786: 41243787
150BRCA1NM_007294.3(BRCA1): c.670+1G> Tsingle nucleotide variantPathogenicrs398122706GRCh37Chr 17, 41247862: 41247862
151BRCA2NM_000059.3(BRCA2): c.2808_2811del4 (p.Ala938Profs)deletionPathogenicrs80359351GRCh37Chr 13, 32911300: 32911303
152BRCA2NM_000059.3(BRCA2): c.658_659delGT (p.Val220Ilefs)deletionPathogenic, risk factorrs80359604GRCh37Chr 13, 32903606: 32903607
153BRCA2NM_000059.3(BRCA2): c.9196C> T (p.Gln3066Ter)single nucleotide variantPathogenicrs80359180GRCh37Chr 13, 32954222: 32954222
154BRCA2NM_000059.3(BRCA2): c.7985C> A (p.Thr2662Lys)single nucleotide variantPathogenicrs431825362GRCh37Chr 13, 32937324: 32937324
155BRCA1NM_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 32)
idSuper pathwaysScoreTop Affiliating Genes
19.4BRCA2, CHEK2
29.2ATM, BRCA1
39.2ATM, BRCA1
49.2ATM, BRCA1
59.2ATM, BRCA1
69.2ATM, BRCA2
7
Show member pathways
9.1BRCA1, BRCA2, PALB2
8
Show member pathways
9.0ATM, CHEK2
9
Show member pathways
9.0ATM, CHEK2
10
Show member pathways
9.0ATM, CHEK2
119.0ATM, CHEK2
12
Show member pathways
8.8ATM, BRCA1, BRCA2
13
Show member pathways
8.8ATM, BRCA1, BRCA2
148.7APC, ATM, BRCA1
158.6ATM, BRCA1, CHEK2
16
Show member pathways
8.6ATM, BRCA1, CHEK2
17
Show member pathways
8.6ATM, BRCA1, CHEK2
18
Show member pathways
8.6ATM, BRCA1, CHEK2
19
Show member pathways
8.6ATM, BRCA1, CHEK2
20
Show member pathways
8.6ATM, BRCA1, CHEK2
21
Show member pathways
8.6ATM, BRCA1, CHEK2
228.5APC, ATM, CHEK2
23
Show member pathways
8.3ATM, BRCA1, BRCA2, PALB2
24
Show member pathways
8.3ATM, BRCA1, BRCA2, PALB2
25
Show member pathways
8.2ATM, BRCA1, BRCA2, CHEK2
26
Show member pathways
8.2ATM, BRCA1, BRCA2, CHEK2
27
Show member pathways
8.2ATM, BRCA1, BRCA2, CHEK2
288.2ATM, BRCA1, BRCA2, CHEK2
298.2ATM, BRCA1, BRCA2, CHEK2
30
Show member pathways
7.6ATM, BRCA1, BRCA2, CHEK2, PALB2
31
Show member pathways
7.6APC, ATM, BRCA1, BRCA2, CHEK2
327.6APC, ATM, BRCA1, BRCA2, CHEK2

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
1protein complexGO:00432349.5APC, BRCA1

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

(show all 20)
idNameGO IDScoreTop Affiliating Genes
1DNA recombinationGO:00063109.9BRCA1, BRCA2
2DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediatorGO:00069789.9BRCA1, BRCA2
3response to nutrientGO:00075849.9BRCA1, BRCA2
4inner cell mass cell proliferationGO:00018339.8BRCA2, PALB2
5chordate embryonic developmentGO:00430099.7BRCA1, BRCA2
6DNA double-strand break processingGO:00007299.6ATM, BRCA1
7cell cycle arrestGO:00070509.6APC, ATM
8response to ionizing radiationGO:00102129.6ATM, BRCA1
9response to gamma radiationGO:00103329.5BRCA2, CHEK2
10somitogenesisGO:00017569.5ATM, PALB2
11DNA damage induced protein phosphorylationGO:00069759.5ATM, CHEK2
12double-strand break repairGO:00063029.5ATM, PALB2
13regulation of signal transduction by p53 class mediatorGO:19017969.4ATM, CHEK2
14DNA synthesis involved in DNA repairGO:00007319.1ATM, BRCA1, BRCA2
15strand displacementGO:00007328.9ATM, BRCA2, PALB2
16replicative senescenceGO:00903998.7ATM, CHEK2
17double-strand break repair via homologous recombinationGO:00007248.6ATM, BRCA1, BRCA2, PALB2
18double-strand break repair via synthesis-dependent strand annealingGO:00450038.5ATM, BRCA1, BRCA2, PALB2
19intrinsic apoptotic signaling pathway in response to DNA damageGO:00086308.4ATM, BRCA1, BRCA2, CHEK2
20cellular response to DNA damage stimulusGO:00069747.6APC, ATM, BRCA1, BRCA2, CHEK2

Sources for Brca1 Hereditary Breast and Ovarian Cancer Syndrome

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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