MCID: BRC085
MIFTS: 41

Brca2 Hereditary Breast and Ovarian Cancer Syndrome malady

Categories: Genetic diseases, Rare diseases, Cancer diseases

Aliases & Classifications for Brca2 Hereditary Breast and Ovarian Cancer Syndrome

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

Name: Brca2 Hereditary Breast and Ovarian Cancer Syndrome 46
Familial Susceptibility to Breast-Ovarian Cancer 2 46 25
Brca2 Hereditary Breast and Ovarian Cancer 23
Malignant Neoplasm of Breast 66
 
Breast Carcinoma 66
Breast Cancer 23
Brovca2 46
Hboc 46

Classifications:



Summaries for Brca2 Hereditary Breast and Ovarian Cancer Syndrome

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NIH Rare Diseases:46 Brca2 hereditary breast and ovarian cancer syndrome (brca2 hboc) is an inherited condition that is characterized by an increased risk for a variety of different cancers. women with this condition have a 49-55% risk of developing breast cancer, a 16-18% risk of developing ovarian cancer and a 62% risk of developing contralateral breast cancer by age 70. men have a 6% lifetime risk of breast cancer and an increased risk for prostate cancer. both men and women with brca2 hboc have an elevated risk for pancreatic cancer. brca2 hboc may also be associated with cancers of the stomach, gallbladder, bile duct, esophagus, stomach, fallopian tube, primary peritoneum, and skin; however, these risks are not well defined. this condition is caused by changes (mutations) in the brca2 gene and is inherited in an autosomal dominant manner. management may include high risk cancer screening, chemopreventation and/or prophylactic surgeries. last updated: 3/10/2015

MalaCards based summary: Brca2 Hereditary Breast and Ovarian Cancer Syndrome, also known as familial susceptibility to breast-ovarian cancer 2, is related to estrogen-receptor negative breast cancer and breast cancer, and has symptoms including pelvic pain An important gene associated with Brca2 Hereditary Breast and Ovarian Cancer Syndrome is BRCA2 (BRCA2, DNA Repair Associated), and among its related pathways are FOXM1 transcription factor network and DNA damage_ATM/ATR regulation of G1/S checkpoint. Affiliated tissues include breast, prostate and skin, and related mouse phenotypes are integument and embryo.

Related Diseases for Brca2 Hereditary Breast and Ovarian Cancer Syndrome

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

(show top 50)    (show all 72)
idRelated DiseaseScoreTop Affiliating Genes
1estrogen-receptor negative breast cancer33.1BRCA1, BRCA2
2breast cancer31.7APC, BRCA1, BRCA2, CHEK2, PALB2
3familial breast cancer31.1APC, BRCA1, BRCA2, CHEK2, PALB2
4breast cancer, childhood30.4APC, BRCA1, BRCA2, CHEK2, 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
21brca1 and brca2 hereditary breast and ovarian cancer11.1
22breast-ovarian cancer, familial, 211.0
23hereditary breast ovarian cancer10.5
24ovarian cancer10.4
25congenital pulmonary veins atresia or stenosis10.3BRCA1, BRCA2
26bronchopulmonary dysplasia10.3BRCA1, BRCA2
27cutaneous lupus erythematosus10.3BRCA1, BRCA2
28autoimmune disease of blood10.3BRCA1, BRCA2
29selective ige deficiency disease10.3BRCA1, BRCA2
30lethal congenital contracture syndrome 710.3BRCA1, BRCA2
31cervical serous adenocarcinoma10.3BRCA1, BRCA2
32fat necrosis of breast10.3BRCA1, BRCA2
33amyloid tumor10.3BRCA1, BRCA2
34ovarian brenner tumor10.2BRCA1, BRCA2
35fallopian tube germ cell cancer10.2BRCA1, BRCA2
36rectum mucinous adenocarcinoma10.2BRCA1, BRCA2
37chronic frontal sinusitis10.2BRCA1, BRCA2
38papillary adenofibroma10.2BRCA1, BRCA2
39mucinous adenocarcinoma10.2APC, BRCA2
40spindle cell synovial sarcoma10.2BRCA1, BRCA2
41leiomyosarcoma10.2BRCA1, BRCA2
42breast squamous cell carcinoma10.2BRCA1, BRCA2
43distal monosomy 9p10.2BRCA1, BRCA2
44mediastinal neurilemmoma10.2BRCA1, BRCA2
45myasthenia gravis, limb-girdle10.2BRCA1, BRCA2
46ductal carcinoma in situ10.2BRCA1, BRCA2
47dental caries10.2BRCA1, BRCA2
48milker's nodule10.1BRCA1, BRCA2
49ovarian wilms' cancer10.1BRCA1, BRCA2
50lung carcinoma in situ10.1BRCA1, BRCA2

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



Diseases related to brca2 hereditary breast and ovarian cancer syndrome

Symptoms for Brca2 Hereditary Breast and Ovarian Cancer Syndrome

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UMLS symptoms related to Brca2 Hereditary Breast and Ovarian Cancer Syndrome:


pelvic pain

Drugs & Therapeutics for Brca2 Hereditary Breast and Ovarian Cancer Syndrome

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Drugs for Brca2 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 16)
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
4PARP-inhibition and CTLA-4 Blockade in BRCA-deficient Ovarian CancerRecruitingNCT02571725Phase 1, Phase 2
5Family Gene ToolkitSuspendedNCT02154633Phase 2
6Veliparib, Carboplatin, and Paclitaxel in Treating Patients With Advanced Solid CancerCompletedNCT00535119Phase 1
7Veliparib in Treating Patients With Malignant Solid Tumors That Do Not Respond to Previous TherapyActive, not recruitingNCT00892736Phase 1
8Risk Education and Assessment for Cancer HeredityCompletedNCT01346761
9Triple Negative Breast Cancer and Germline Hereditary Breast and Ovarian Cancer Mutation Carrier RegistryRecruitingNCT02302742
10Cancer Genetics Hereditary Cancer Panel TestingRecruitingNCT02324062
11Pancreatic Cancer GeneticsRecruitingNCT01102569
12Culturally-Informed Counseling in Latinas at High Risk for Hereditary Breast or Ovarian CancerRecruitingNCT01230346
13C-PATROL - Non-interventional Study (NIS) to Collect Clinical and Patient Reported Outcome Data in an Olaparib Treated BRCAm+ PSR Ovarian Cancer PopulationRecruitingNCT02503436
14Genetic Counseling for Breast Cancer Survivors (GC for BC)Active, not recruitingNCT02451735
15Clinical, Genetic, Behavioral, Laboratory and Epidemiologic Characterization of Individuals and Families at High Risk of Breast/Ovarian CancerActive, not recruitingNCT00040222
16Family Communication of Hereditary Breast and Ovarian Cancer Risk Among African AmericansTerminatedNCT01374685

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

Genetic Tests for Brca2 Hereditary Breast and Ovarian Cancer Syndrome

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

id Genetic test Affiliating Genes
1 Breast-Ovarian Cancer, Familial 225
2 Brca2 Hereditary Breast and Ovarian Cancer23 BRCA2

Anatomical Context for Brca2 Hereditary Breast and Ovarian Cancer Syndrome

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

34
Breast, Prostate, Skin, Testes

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

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

39 (show all 12)
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00107718.8APC, BRCA1, BRCA2, PALB2
2MP:00053808.6APC, BRCA1, BRCA2, PALB2
3MP:00053718.3APC, BRCA1, BRCA2, PALB2
4MP:00053847.8APC, BRCA1, BRCA2, CHEK2, PALB2
5MP:00020067.8APC, BRCA1, BRCA2, CHEK2, PALB2

Publications for Brca2 Hereditary Breast and Ovarian Cancer Syndrome

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Variations for Brca2 Hereditary Breast and Ovarian Cancer Syndrome

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

5 (show all 351)
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
3BRCA2NM_000059.3(BRCA2): c.891_899delAACAGTTGTinsGATACTTCAG (p.Thr298Ilefs)indelPathogenicrs276174914GRCh38Chr 13, 32332369: 32332377
4BRCA2NM_000059.3(BRCA2): c.1408dupG (p.Glu470Glyfs)duplicationPathogenicrs80359284GRCh37Chr 13, 32907023: 32907023
5BRCA2NM_000059.3(BRCA2): c.2833_2834insTT (p.Lys945Ilefs)insertionPathogenicrs80359355GRCh37Chr 13, 32911325: 32911326
6BRCA2NM_000059.3(BRCA2): c.4131_4132insTGAGGA (p.Thr1378_Gly1712delinsTer)insertionPathogenicrs80359429GRCh37Chr 13, 32912623: 32912624
7BRCA2NM_000059.3(BRCA2): c.489_490insG (p.Leu164Valfs)insertionPathogenicrs120074205GRCh38Chr 13, 32326255: 32326256
8BRCA2NM_000059.3(BRCA2): c.7977-1G> Tsingle nucleotide variantPathogenicrs81002874GRCh37Chr 13, 32937315: 32937315
9BRCA2NM_000059.3(BRCA2): c.8745_8748dupTTAC (p.Glu2918Profs)duplicationPathogenicrs80359727GRCh37Chr 13, 32950919: 32950922
10BRCA2NM_000059.3(BRCA2): c.9672dupA (p.Tyr3225Ilefs)duplicationPathogenicrs80359773GRCh38Chr 13, 32398185: 32398185
11PALB2NM_024675.3(PALB2): c.1027C> T (p.Gln343Ter)single nucleotide variantPathogenic, risk factorrs180177097GRCh38Chr 16, 23635519: 23635519
12PALB2NM_024675.3(PALB2): c.3116delA (p.Asn1039Ilefs)deletionLikely pathogenic, Pathogenic, risk factorrs180177133GRCh38Chr 16, 23614089: 23614089
13BRCA2NM_000059.3(BRCA2): c.1909+1G> Asingle nucleotide variantLikely pathogenic, Pathogenicrs587781629GRCh37Chr 13, 32907525: 32907525
14BRCA2NM_000059.3(BRCA2): c.8948_8953+5delATTCAGGTAAGdeletionLikely pathogenic, Pathogenicrs276174915GRCh37Chr 13, 32953647: 32953657
15BRCA2NM_000059.3(BRCA2): c.6816_6820delAAGAG (p.Gly2274Alafs)deletionPathogenicrs587781803GRCh37Chr 13, 32915308: 32915312
16BRCA2NM_000059.3(BRCA2): c.6044T> A (p.Leu2015Ter)single nucleotide variantPathogenicrs587776468GRCh38Chr 13, 32340399: 32340399
17BRCA1NM_007294.3(BRCA1): c.3607C> T (p.Arg1203Ter)single nucleotide variantPathogenicrs62625308GRCh37Chr 17, 41243941: 41243941
18BRCA2NM_000059.3(BRCA2): c.3172A> T (p.Lys1058Ter)single nucleotide variantPathogenicrs730881521GRCh38Chr 13, 32337527: 32337527
19BRCA2NM_000059.3(BRCA2): c.9648+1G> Csingle nucleotide variantPathogenicrs730881573GRCh38Chr 13, 32397045: 32397045
20BRCA2NM_000059.3(BRCA2): c.774_775delAA (p.Glu260Serfs)deletionLikely pathogenic, Pathogenicrs786204273GRCh38Chr 13, 32331011: 32331012
21BRCA2NM_000059.3(BRCA2): c.8143A> T (p.Lys2715Ter)single nucleotide variantPathogenicrs863224469GRCh37Chr 13, 32937482: 32937482
22BRCA2NM_000059.3(BRCA2): c.4587dupG (p.Lys1530Glufs)duplicationPathogenicrs745456776GRCh38Chr 13, 32338942: 32338942
23BRCA2NM_000059.3(BRCA2): c.3201delT (p.Val1068Tyrfs)deletionPathogenicrs864622672GRCh37Chr 13, 32911693: 32911693
24BRCA2NM_000059.3(BRCA2): c.8902_8913delACCGTGTGGAAGinsTCCC (p.Thr2968Serfs)indelPathogenicrs864622735GRCh37Chr 13, 32953601: 32953612
25BRCA2NM_000059.3(BRCA2): c.67+1G> Csingle nucleotide variantLikely pathogenic, Pathogenicrs81002796GRCh38Chr 13, 32316528: 32316528
26BRCA2NM_000059.3: c.156_157insALUinsertionPathogenic
27BRCA2NM_000059.3(BRCA2): c.4619_4623delACAAA (p.Asp1540Glyfs)deletionPathogenicrs869320793GRCh37Chr 13, 32913111: 32913115
28BRCA2NM_000059.3(BRCA2): c.1943delC (p.Ser648Tyrfs)deletionPathogenicrs876658660GRCh37Chr 13, 32910435: 32910435
29BRCA2NM_000059.3(BRCA2): c.2623_2624delGT (p.Val875Glnfs)deletionPathogenicrs876658928GRCh37Chr 13, 32911115: 32911116
30BRCA2NM_000059.3(BRCA2): c.7762_7764delATAinsTT (p.Ile2588Phefs)indelPathogenicrs483353072GRCh37Chr 13, 32932023: 32932025
31NM_000051.3(ATM): c.7271T> G (p.Val2424Gly)single nucleotide variantPathogenic, risk factorrs28904921GRCh37Chr 11, 108199929: 108199929
32BRCA2NM_000059.3(BRCA2): c.1029delA (p.Lys343Asnfs)deletionPathogenicrs80359260GRCh37Chr 13, 32906644: 32906644
33BRCA2NM_000059.3(BRCA2): c.1205delG (p.Gly402Valfs)deletionPathogenicrs397507265GRCh37Chr 13, 32906820: 32906820
34BRCA2NM_000059.3(BRCA2): c.1257delT (p.Cys419Trpfs)deletionPathogenicrs80359272GRCh37Chr 13, 32906872: 32906872
35BRCA2NM_000059.3(BRCA2): c.1265delA (p.Asn422Ilefs)deletionPathogenicrs80359273GRCh37Chr 13, 32906880: 32906880
36BRCA2NM_000059.3(BRCA2): c.1296_1297delGA (p.Asn433Glnfs)deletionPathogenicrs80359276GRCh37Chr 13, 32906911: 32906912
37BRCA2NM_000059.3(BRCA2): c.1309_1312delAAAG (p.Lys437Ilefs)deletionPathogenicrs80359277GRCh37Chr 13, 32906925: 32906928
38BRCA2NM_000059.3(BRCA2): c.1705C> A (p.Gln569Lys)single nucleotide variantPathogenicrs397507274GRCh37Chr 13, 32907320: 32907320
39BRCA2NM_000059.3(BRCA2): c.1755_1759delGAAAA (p.Lys585Asnfs)deletionPathogenicrs80359302GRCh37Chr 13, 32907370: 32907374
40BRCA2NM_000059.3(BRCA2): c.1796_1800delCTTAT (p.Ser599Terfs)deletionPathogenicrs276174813GRCh37Chr 13, 32907411: 32907415
41BRCA2NM_000059.3(BRCA2): c.1800T> A (p.Tyr600Ter)single nucleotide variantPathogenicrs80358464GRCh37Chr 13, 32907415: 32907415
42BRCA2NM_000059.3(BRCA2): c.1813dupA (p.Ile605Asnfs)duplicationPathogenicrs80359306GRCh37Chr 13, 32907428: 32907428
43BRCA2NM_000059.3(BRCA2): c.1813delA (p.Ile605Tyrfs)deletionPathogenicrs80359307GRCh37Chr 13, 32907428: 32907428
44BRCA2NM_000059.3(BRCA2): c.1832C> A (p.Ser611Ter)single nucleotide variantPathogenicrs80358474GRCh37Chr 13, 32907447: 32907447
45BRCA2NM_000059.3(BRCA2): c.1929delG (p.Arg645Glufs)deletionPathogenicrs80359316GRCh37Chr 13, 32910421: 32910421
46BRCA2NM_000059.3(BRCA2): c.1970T> A (p.Leu657Ter)single nucleotide variantPathogenicrs397507279GRCh37Chr 13, 32910462: 32910462
47BRCA2NM_000059.3(BRCA2): c.2092delC (p.Leu698Tyrfs)deletionPathogenicrs80359322GRCh37Chr 13, 32910584: 32910584
48BRCA2NM_000059.3(BRCA2): c.2409T> G (p.Tyr803Ter)single nucleotide variantPathogenicrs80358504GRCh37Chr 13, 32910901: 32910901
49BRCA2NM_000059.3(BRCA2): c.2426T> G (p.Leu809Ter)single nucleotide variantPathogenicrs397507285GRCh37Chr 13, 32910918: 32910918
50BRCA2NM_000059.3(BRCA2): c.2588dupA (p.Asn863Lysfs)duplicationPathogenicrs80359335GRCh37Chr 13, 32911080: 32911080
51BRCA2NM_000059.3(BRCA2): c.274C> T (p.Gln92Ter)single nucleotide variantPathogenicrs80358529GRCh37Chr 13, 32893420: 32893420
52BRCA2NM_000059.3(BRCA2): c.2818C> T (p.Gln940Ter)single nucleotide variantPathogenicrs80358532GRCh37Chr 13, 32911310: 32911310
53BRCA2NM_000059.3(BRCA2): c.2979G> A (p.Trp993Ter)single nucleotide variantPathogenicrs80358544GRCh37Chr 13, 32911471: 32911471
54BRCA2NM_000059.3(BRCA2): c.3009_3010delCA (p.His1003Glnfs)deletionPathogenicrs397507300GRCh37Chr 13, 32911501: 32911502
55BRCA2NM_000059.3(BRCA2): c.3109C> T (p.Gln1037Ter)single nucleotide variantPathogenicrs80358557GRCh37Chr 13, 32911601: 32911601
56BRCA2NM_000059.3(BRCA2): c.3170_3174delAGAAA (p.Lys1057Thrfs)deletionPathogenicrs80359373GRCh37Chr 13, 32911662: 32911666
57BRCA2NM_000059.3(BRCA2): c.3264dupT (p.Gln1089Serfs)duplicationLikely pathogenic, Pathogenicrs80359380GRCh37Chr 13, 32911756: 32911756
58BRCA2NM_000059.3(BRCA2): c.3545_3546delTT (p.Phe1182Terfs)deletionPathogenicrs80359388GRCh37Chr 13, 32912037: 32912038
59BRCA2NM_000059.3(BRCA2): c.3689delC (p.Ser1230Leufs)deletionPathogenicrs80359398GRCh37Chr 13, 32912181: 32912181
60BRCA2NM_000059.3(BRCA2): c.3717delA (p.Lys1239Asnfs)deletionPathogenicrs80359401GRCh37Chr 13, 32912209: 32912209
61BRCA2NM_000059.3(BRCA2): c.3744_3747delTGAG (p.Ser1248Argfs)deletionPathogenicrs80359403GRCh37Chr 13, 32912236: 32912239
62BRCA2NM_000059.3(BRCA2): c.3847_3848delGT (p.Val1283Lysfs)deletionPathogenicrs80359405GRCh37Chr 13, 32912339: 32912340
63BRCA2NM_000059.3(BRCA2): c.3865_3868delAAAT (p.Lys1289Alafs)deletionPathogenicrs80359412GRCh37Chr 13, 32912357: 32912360
64BRCA2NM_000059.3(BRCA2): c.3922G> T (p.Glu1308Ter)single nucleotide variantPathogenicrs80358638GRCh37Chr 13, 32912414: 32912414
65BRCA2NM_000059.3(BRCA2): c.4058_4062delAAACG (p.Glu1353Glyfs)deletionPathogenicrs397507322GRCh37Chr 13, 32912550: 32912554
66BRCA2NM_000059.3(BRCA2): c.4127_4130delGAAA (p.Gly1376Alafs)deletionPathogenicrs397507323GRCh37Chr 13, 32912619: 32912622
67BRCA2NM_000059.3(BRCA2): c.4163_4164delCTinsA (p.Thr1388Asnfs)indelPathogenicrs276174843GRCh37Chr 13, 32912655: 32912656
68BRCA2NM_000059.3(BRCA2): c.4222C> T (p.Gln1408Ter)single nucleotide variantPathogenicrs80358663GRCh37Chr 13, 32912714: 32912714
69BRCA2NM_000059.3(BRCA2): c.4243G> T (p.Glu1415Ter)single nucleotide variantPathogenicrs397507327GRCh37Chr 13, 32912735: 32912735
70BRCA2NM_000059.3(BRCA2): c.4284dupT (p.Gln1429Serfs)duplicationLikely pathogenic, Pathogenicrs80359439GRCh37Chr 13, 32912776: 32912776
71BRCA2NM_000059.3(BRCA2): c.4415_4418delAGAA (p.Lys1472Thrfs)deletionPathogenicrs397507333GRCh37Chr 13, 32912907: 32912910
72BRCA2NM_000059.3(BRCA2): c.4472_4475delTGAA (p.Leu1491Glnfs)deletionPathogenicrs80359452GRCh37Chr 13, 32912964: 32912967
73BRCA2NM_000059.3(BRCA2): c.4631dupA (p.Asn1544Lysfs)duplicationPathogenicrs80359460GRCh37Chr 13, 32913123: 32913123
74BRCA2NM_000059.3(BRCA2): c.4631delA (p.Asn1544Thrfs)deletionLikely pathogenic, Pathogenicrs80359461GRCh37Chr 13, 32913123: 32913123
75BRCA2NM_000059.3(BRCA2): c.4638delT (p.Phe1546Leufs)deletionPathogenicrs80359462GRCh37Chr 13, 32913130: 32913130
76BRCA2NM_000059.3(BRCA2): c.4712_4713delAG (p.Glu1571Glyfs)deletionPathogenicrs80359464GRCh37Chr 13, 32913204: 32913205
77BRCA2NM_000059.3(BRCA2): c.4876_4877delAA (p.Asn1626Serfs)deletionPathogenicrs80359470GRCh37Chr 13, 32913368: 32913369
78BRCA2NM_000059.3(BRCA2): c.4936_4939delGAAA (p.Glu1646Glnfs)deletionPathogenicrs80359473GRCh37Chr 13, 32913428: 32913431
79BRCA2NM_000059.3(BRCA2): c.4965C> G (p.Tyr1655Ter)single nucleotide variantPathogenicrs80358721GRCh37Chr 13, 32913457: 32913457
80BRCA2NM_000059.3(BRCA2): c.5035delA (p.Thr1679Leufs)deletionPathogenicrs80359477GRCh37Chr 13, 32913527: 32913527
81BRCA2NM_000059.3(BRCA2): c.5042_5043delTG (p.Val1681Glufs)deletionPathogenicrs80359478GRCh37Chr 13, 32913534: 32913535
82BRCA2NM_000059.3(BRCA2): c.5073dupA (p.Trp1692Metfs)duplicationPathogenicrs80359480GRCh37Chr 13, 32913565: 32913565
83BRCA2NM_000059.3(BRCA2): c.518delG (p.Gly173Valfs)deletionPathogenicrs80359492GRCh37Chr 13, 32900637: 32900637
84BRCA2NM_000059.3(BRCA2): c.5213_5216delCTTA (p.Thr1738Ilefs)deletionPathogenicrs80359493GRCh37Chr 13, 32913705: 32913708
85BRCA2NM_000059.3(BRCA2): c.5238dupT (p.Asn1747Terfs)duplicationPathogenicrs80359499GRCh37Chr 13, 32913730: 32913730
86BRCA2NM_000059.3(BRCA2): c.5290_5291delTC (p.Ser1764Lysfs)deletionPathogenicrs80359503GRCh37Chr 13, 32913782: 32913783
87BRCA2NM_000059.3(BRCA2): c.5303_5304delTT (p.Leu1768Argfs)deletionPathogenicrs80359505GRCh37Chr 13, 32913795: 32913796
88BRCA2NM_000059.3(BRCA2): c.5350_5351delAA (p.Asn1784Hisfs)deletionPathogenicrs80359507GRCh37Chr 13, 32913842: 32913843
89BRCA2NM_000059.3(BRCA2): c.5351dupA (p.Asn1784Lysfs)duplicationPathogenicrs80359508GRCh37Chr 13, 32913843: 32913843
90BRCA2NM_000059.3(BRCA2): c.5410_5411delGT (p.Val1804Lysfs)deletionPathogenicrs80359512GRCh37Chr 13, 32913902: 32913903
91BRCA2NM_000059.3(BRCA2): c.5576_5579delTTAA (p.Ile1859Lysfs)deletionPathogenicrs80359520GRCh37Chr 13, 32914068: 32914071
92BRCA2NM_000059.3(BRCA2): c.5595_5596delAT (p.Phe1866Tyrfs)deletionPathogenicrs80359524GRCh37Chr 13, 32914087: 32914088
93BRCA2NM_000059.3(BRCA2): c.5614A> T (p.Lys1872Ter)single nucleotide variantPathogenicrs80358783GRCh37Chr 13, 32914106: 32914106
94BRCA2NM_000059.3(BRCA2): c.5621_5624delTTAA (p.Ile1874Argfs)deletionPathogenicrs80359526GRCh37Chr 13, 32914113: 32914116
95BRCA2NM_000059.3(BRCA2): c.5645C> A (p.Ser1882Ter)single nucleotide variantPathogenicrs80358785GRCh37Chr 13, 32914137: 32914137
96BRCA2NM_000059.3(BRCA2): c.5655C> A (p.Cys1885Ter)single nucleotide variantPathogenicrs80358789GRCh37Chr 13, 32914147: 32914147
97BRCA2NM_000059.3(BRCA2): c.5681dupA (p.Tyr1894Terfs)duplicationPathogenicrs80359527GRCh37Chr 13, 32914173: 32914173
98BRCA2NM_000059.3(BRCA2): c.5682C> G (p.Tyr1894Ter)single nucleotide variantPathogenicrs41293497GRCh37Chr 13, 32914174: 32914174
99BRCA2NM_000059.3(BRCA2): c.574_575delAT (p.Met192Valfs)deletionPathogenicrs80359533GRCh37Chr 13, 32900693: 32900694
100BRCA2NM_000059.3(BRCA2): c.5782G> T (p.Glu1928Ter)single nucleotide variantPathogenicrs56253082GRCh37Chr 13, 32914274: 32914274
101BRCA2NM_000059.3(BRCA2): c.5799_5802delCCAA (p.Asn1933Lysfs)deletionPathogenicrs80359538GRCh37Chr 13, 32914291: 32914294
102BRCA2NM_000059.3(BRCA2): c.5828delC (p.Ser1943Leufs)deletionPathogenicrs80359541GRCh37Chr 13, 32914320: 32914320
103BRCA2NM_000059.3(BRCA2): c.5855T> A (p.Leu1952Ter)single nucleotide variantLikely pathogenic, Pathogenicrs375064902GRCh37Chr 13, 32914347: 32914347
104BRCA2NM_000059.3(BRCA2): c.5980C> T (p.Gln1994Ter)single nucleotide variantPathogenicrs80358831GRCh37Chr 13, 32914472: 32914472
105BRCA2NM_000059.3(BRCA2): c.6024dupG (p.Gln2009Alafs)duplicationPathogenicrs80359554GRCh37Chr 13, 32914516: 32914516
106BRCA2NM_000059.3(BRCA2): c.6037A> T (p.Lys2013Ter)single nucleotide variantLikely pathogenic, Pathogenicrs80358840GRCh37Chr 13, 32914529: 32914529
107BRCA2NM_000059.3(BRCA2): c.6333_6337delGAGAA (p.Arg2112Profs)deletionPathogenicrs397507369GRCh37Chr 13, 32914825: 32914829
108BRCA2NM_000059.3(BRCA2): c.6373dupA (p.Thr2125Asnfs)duplicationPathogenicrs80359577GRCh37Chr 13, 32914865: 32914865
109BRCA2NM_000059.3(BRCA2): c.6405_6409delCTTAA (p.Asn2135Lysfs)deletionPathogenicrs80359584GRCh37Chr 13, 32914897: 32914901
110BRCA2NM_000059.3(BRCA2): c.6468_6469delTC (p.Gln2157Ilefs)deletionPathogenicrs80359596GRCh37Chr 13, 32914960: 32914961
111BRCA2NM_000059.3(BRCA2): c.6486_6489delACAA (p.Lys2162Asnfs)deletionPathogenicrs80359598GRCh37Chr 13, 32914978: 32914981
112BRCA2NM_000059.3(BRCA2): c.6566dupA (p.Asn2189Lysfs)duplicationPathogenicrs397507373GRCh37Chr 13, 32915058: 32915058
113BRCA2NM_000059.3(BRCA2): c.6644_6647delACTC (p.Tyr2215Serfs)deletionPathogenicrs80359616GRCh37Chr 13, 32915136: 32915139
114BRCA2NM_000059.3(BRCA2): c.688A> T (p.Lys230Ter)single nucleotide variantPathogenicrs80358913GRCh37Chr 13, 32905062: 32905062
115BRCA2NM_000059.3(BRCA2): c.6944_6947delTAAA (p.Ile2315Lysfs)deletionPathogenicrs80359629GRCh37Chr 13, 32920970: 32920973
116BRCA2NM_000059.3(BRCA2): c.6952C> T (p.Arg2318Ter)single nucleotide variantPathogenicrs80358920GRCh37Chr 13, 32920978: 32920978
117BRCA2NM_000059.3(BRCA2): c.7007G> A (p.Arg2336His)single nucleotide variantPathogenicrs28897743GRCh37Chr 13, 32921033: 32921033
118BRCA2NM_000059.3(BRCA2): c.7069_7070delCT (p.Leu2357Valfs)deletionPathogenicrs80359636GRCh37Chr 13, 32929059: 32929060
119BRCA2NM_000059.3(BRCA2): c.7133C> G (p.Ser2378Ter)single nucleotide variantPathogenicrs276174889GRCh37Chr 13, 32929123: 32929123
120BRCA2NM_000059.3(BRCA2): c.7258G> T (p.Glu2420Ter)single nucleotide variantPathogenicrs397507385GRCh37Chr 13, 32929248: 32929248
121BRCA2NM_000059.3(BRCA2): c.7480C> T (p.Arg2494Ter)single nucleotide variantPathogenicrs80358972GRCh37Chr 13, 32930609: 32930609
122BRCA2NM_000059.3(BRCA2): c.7543dupA (p.Thr2515Asnfs)duplicationPathogenicrs80359657GRCh37Chr 13, 32930672: 32930672
123BRCA2NM_000059.3(BRCA2): c.755_758delACAG (p.Asp252Valfs)deletionPathogenicrs80359659GRCh37Chr 13, 32905129: 32905132
124BRCA2NM_000059.3(BRCA2): c.7618-1G> Asingle nucleotide variantPathogenicrs397507389GRCh37Chr 13, 32931878: 32931878
125BRCA2NM_000059.3(BRCA2): c.778_779delGA (p.Glu260Serfs)deletionPathogenicrs80359677GRCh37Chr 13, 32905152: 32905153
126BRCA2NM_000059.3(BRCA2): c.7878G> A (p.Trp2626Ter)single nucleotide variantPathogenicrs80359013GRCh37Chr 13, 32936732: 32936732
127BRCA2NM_000059.3(BRCA2): c.7878G> C (p.Trp2626Cys)single nucleotide variantPathogenicrs80359013GRCh37Chr 13, 32936732: 32936732
128BRCA2NM_000059.3(BRCA2): c.7913_7917delTTCCT (p.Phe2638Terfs)deletionPathogenicrs80359686GRCh37Chr 13, 32936767: 32936771
129BRCA2NM_000059.3(BRCA2): c.7976G> A (p.Arg2659Lys)single nucleotide variantPathogenicrs80359027GRCh37Chr 13, 32936830: 32936830
130BRCA2NM_000059.3(BRCA2): c.7977-1G> Csingle nucleotide variantPathogenicrs81002874GRCh37Chr 13, 32937315: 32937315
131BRCA2NM_000059.3(BRCA2): c.8168A> G (p.Asp2723Gly)single nucleotide variantPathogenicrs41293513GRCh37Chr 13, 32937507: 32937507
132BRCA2NM_000059.3(BRCA2): c.8297delC (p.Thr2766Asnfs)deletionPathogenicrs80359705GRCh37Chr 13, 32937636: 32937636
133BRCA2NM_000059.3(BRCA2): c.8322dupT (p.Met2775Tyrfs)duplicationPathogenicrs80359706GRCh37Chr 13, 32937661: 32937661
134BRCA2NM_000059.3(BRCA2): c.8331+1G> Asingle nucleotide variantLikely pathogenic, Pathogenicrs81002837GRCh37Chr 13, 32937671: 32937671
135BRCA2NM_000059.3(BRCA2): c.8414_8416delTATinsC (p.Leu2805Serfs)indelPathogenicrs397507402GRCh37Chr 13, 32944621: 32944623
136BRCA2NM_000059.3(BRCA2): c.8488-1G> Asingle nucleotide variantLikely pathogenic, Pathogenicrs397507404GRCh37Chr 13, 32945092: 32945092
137BRCA2NM_000059.3(BRCA2): c.8575delC (p.Gln2859Lysfs)deletionPathogenicrs80359718GRCh37Chr 13, 32945180: 32945180
138BRCA2NM_000059.3(BRCA2): c.8585dupT (p.Glu2863Argfs)duplicationPathogenicrs80359720GRCh37Chr 13, 32945190: 32945190
139BRCA2NM_000059.3(BRCA2): c.8677C> T (p.Gln2893Ter)single nucleotide variantPathogenicrs397507409GRCh37Chr 13, 32950851: 32950851
140BRCA2NM_000059.3(BRCA2): c.8680delC (p.Gln2894Lysfs)deletionPathogenicrs397507410GRCh37Chr 13, 32950854: 32950854
141BRCA2NM_000059.3(BRCA2): c.8904delC (p.Val2969Cysfs)deletionPathogenicrs80359730GRCh37Chr 13, 32953603: 32953603
142BRCA2NM_000059.3(BRCA2): c.8946dupA (p.Asp2983Argfs)duplicationPathogenicrs80359733GRCh37Chr 13, 32953645: 32953645
143BRCA2NM_000059.3(BRCA2): c.8953+1G> Tsingle nucleotide variantPathogenicrs81002882GRCh37Chr 13, 32953653: 32953653
144BRCA2NM_000059.3(BRCA2): c.9004G> A (p.Glu3002Lys)single nucleotide variantLikely pathogenic, Pathogenicrs80359152GRCh37Chr 13, 32953937: 32953937
145BRCA2NM_000059.3(BRCA2): c.9026_9030delATCAT (p.Tyr3009Serfs)deletionPathogenicrs80359741GRCh37Chr 13, 32953959: 32953963
146BRCA2NM_000059.3(BRCA2): c.9097dupA (p.Thr3033Asnfs)duplicationPathogenicrs397507419GRCh37Chr 13, 32954030: 32954030
147BRCA2NM_000059.3(BRCA2): c.9117G> A (p.Pro3039=)single nucleotide variantPathogenicrs28897756GRCh37Chr 13, 32954050: 32954050
148BRCA2NM_000059.3(BRCA2): c.9235delG (p.Val3079Phefs)deletionPathogenicrs397507422GRCh37Chr 13, 32954261: 32954261
149BRCA2NM_000059.3(BRCA2): c.9253dupA (p.Thr3085Asnfs)duplicationLikely pathogenic, Pathogenicrs80359752GRCh37Chr 13, 32954279: 32954279
150BRCA2NM_000059.3(BRCA2): c.9294C> G (p.Tyr3098Ter)single nucleotide variantPathogenicrs80359200GRCh37Chr 13, 32968863: 32968863
151BRCA2NM_000059.3(BRCA2): c.9371A> T (p.Asn3124Ile)single nucleotide variantLikely pathogenic, Pathogenicrs28897759GRCh37Chr 13, 32968940: 32968940
152BRCA2NM_000059.3(BRCA2): c.9435_9436delGT (p.Ser3147Cysfs)deletionPathogenicrs80359763GRCh37Chr 13, 32969004: 32969005
153BRCA2NM_000059.3(BRCA2): c.9699_9702delTATG (p.Cys3233Trpfs)deletionLikely pathogenic, Pathogenicrs80359775GRCh37Chr 13, 32972349: 32972352
154BRCA2NM_000059.3(BRCA2): c.5482_5486delAAATT (p.Lys1828Valfs)deletionPathogenicrs80359516GRCh37Chr 13, 32913974: 32913978
155BRCA2NM_000059.3(BRCA2): c.100G> T (p.Glu34Ter)single nucleotide variantLikely pathogenic, Pathogenicrs80358391GRCh37Chr 13, 32893246: 32893246
156BRCA2NM_000059.3(BRCA2): c.1103C> A (p.Ser368Ter)single nucleotide variantPathogenicrs80358407GRCh37Chr 13, 32906718: 32906718
157BRCA2NM_000059.3(BRCA2): c.1138delA (p.Ser380Valfs)deletionPathogenicrs80359264GRCh37Chr 13, 32906753: 32906753
158BRCA2NM_000059.3(BRCA2): c.1189_1190insTTAG (p.Gln397Leufs)insertionPathogenicrs397515635GRCh37Chr 13, 32906804: 32906805
159BRCA2NM_000059.3(BRCA2): c.1278delA (p.Asp427Thrfs)deletionPathogenicrs80359274GRCh37Chr 13, 32906893: 32906893
160BRCA2NM_000059.3(BRCA2): c.1327G> T (p.Glu443Ter)single nucleotide variantLikely pathogenic, Pathogenicrs397507579GRCh37Chr 13, 32906942: 32906942
161BRCA2NM_000059.3(BRCA2): c.1362delA (p.Lys454Asnfs)deletionPathogenicrs397507582GRCh37Chr 13, 32906977: 32906977
162BRCA2NM_000059.3(BRCA2): c.1389_1390delAG (p.Val464Glyfs)deletionPathogenicrs80359283GRCh37Chr 13, 32907004: 32907005
163BRCA2NM_000059.3(BRCA2): c.1399A> T (p.Lys467Ter)single nucleotide variantPathogenicrs80358427GRCh37Chr 13, 32907014: 32907014
164BRCA2NM_000059.3(BRCA2): c.1411G> T (p.Glu471Ter)single nucleotide variantPathogenicrs80358428GRCh37Chr 13, 32907026: 32907026
165BRCA2NM_000059.3(BRCA2): c.1456C> T (p.Gln486Ter)single nucleotide variantPathogenicrs80358434GRCh37Chr 13, 32907071: 32907071
166BRCA2NM_000059.3(BRCA2): c.145G> T (p.Glu49Ter)single nucleotide variantLikely pathogenic, Pathogenicrs80358435GRCh37Chr 13, 32893291: 32893291
167BRCA2NM_000059.3(BRCA2): c.1631_1632delCT (p.Thr544Serfs)deletionPathogenicrs80359295GRCh37Chr 13, 32907246: 32907247
168BRCA2NM_000059.3(BRCA2): c.1654delT (p.Ser552Profs)deletionPathogenicrs80359297GRCh37Chr 13, 32907269: 32907269
169BRCA2NM_000059.3(BRCA2): c.1670T> G (p.Leu557Ter)single nucleotide variantPathogenicrs80358452GRCh37Chr 13, 32907285: 32907285
170BRCA2NM_000059.3(BRCA2): c.1754delA (p.Lys585Argfs)deletionPathogenicrs80359301GRCh37Chr 13, 32907369: 32907369
171BRCA2NM_000059.3(BRCA2): c.1763_1766delATAA (p.Asn588Serfs)deletionPathogenicrs80359303GRCh37Chr 13, 32907378: 32907381
172BRCA2NM_000059.3(BRCA2): c.1773_1776delTTAT (p.Ile591Metfs)deletionPathogenicrs80359304GRCh37Chr 13, 32907388: 32907391
173BRCA2NM_000059.3(BRCA2): c.1831delT (p.Ser611Glnfs)deletionPathogenicrs80359311GRCh37Chr 13, 32907446: 32907446
174BRCA2NM_000059.3(BRCA2): c.1855C> T (p.Gln619Ter)single nucleotide variantPathogenicrs80358476GRCh37Chr 13, 32907470: 32907470
175BRCA2NM_000059.3(BRCA2): c.1889delC (p.Thr630Asnfs)deletionPathogenicrs80359315GRCh37Chr 13, 32907504: 32907504
176BRCA2NM_000059.3(BRCA2): c.2103_2106delTATT (p.Phe701Leufs)deletionPathogenicrs80359324GRCh37Chr 13, 32910595: 32910598
177BRCA2NM_000059.3(BRCA2): c.2224C> T (p.Gln742Ter)single nucleotide variantPathogenicrs80358494GRCh37Chr 13, 32910716: 32910716
178BRCA2NM_000059.3(BRCA2): c.250C> T (p.Gln84Ter)single nucleotide variantPathogenicrs80358515GRCh37Chr 13, 32893396: 32893396
179BRCA2NM_000059.3(BRCA2): c.2517C> A (p.Tyr839Ter)single nucleotide variantPathogenicrs80358516GRCh37Chr 13, 32911009: 32911009
180BRCA2NM_000059.3(BRCA2): c.2612C> A (p.Ser871Ter)single nucleotide variantPathogenicrs397507634GRCh37Chr 13, 32911104: 32911104
181BRCA2NM_000059.3(BRCA2): c.262_263delCT (p.Leu88Alafs)deletionPathogenicrs276174825GRCh37Chr 13, 32893408: 32893409
182BRCA2NM_000059.3(BRCA2): c.26delC (p.Pro9Glnfs)deletionPathogenicrs80359343GRCh37Chr 13, 32890623: 32890623
183BRCA2NM_000059.3(BRCA2): c.2812_2815delGCAA (p.Ala938Profs)deletionPathogenicrs80359354GRCh37Chr 13, 32911304: 32911307
184BRCA2NM_000059.3(BRCA2): c.2830A> T (p.Lys944Ter)single nucleotide variantPathogenicrs80358533GRCh37Chr 13, 32911322: 32911322
185BRCA2NM_000059.3(BRCA2): c.2836_2837delGA (p.Asp946Phefs)deletionPathogenicrs80359357GRCh37Chr 13, 32911328: 32911329
186BRCA2NM_000059.3(BRCA2): c.289G> T (p.Glu97Ter)single nucleotide variantPathogenicrs397507646GRCh37Chr 13, 32893435: 32893435
187BRCA2NM_000059.3(BRCA2): c.2957dupA (p.Asn986Lysfs)duplicationPathogenicrs80359365GRCh37Chr 13, 32911449: 32911449
188BRCA2NM_000059.3(BRCA2): c.3103G> T (p.Glu1035Ter)single nucleotide variantPathogenicrs80358556GRCh37Chr 13, 32911595: 32911595
189BRCA2NM_000059.3(BRCA2): c.314T> G (p.Leu105Ter)single nucleotide variantPathogenicrs80358561GRCh37Chr 13, 32893460: 32893460
190BRCA2NM_000059.3(BRCA2): c.316+5G> Asingle nucleotide variantLikely pathogenic, Pathogenicrs81002840GRCh37Chr 13, 32893467: 32893467
191BRCA2NM_000059.3(BRCA2): c.3166C> T (p.Gln1056Ter)single nucleotide variantPathogenicrs79728106GRCh37Chr 13, 32911658: 32911658
192BRCA2NM_000059.3(BRCA2): c.3189_3192delGTCA (p.Ser1064Leufs)deletionLikely pathogenic, Pathogenicrs80359374GRCh37Chr 13, 32911681: 32911684
193BRCA2NM_000059.3(BRCA2): c.3362C> G (p.Ser1121Ter)single nucleotide variantPathogenicrs80358579GRCh37Chr 13, 32911854: 32911854
194BRCA2NM_000059.3(BRCA2): c.3500_3501delTA (p.Ile1167Asnfs)deletionPathogenicrs80359387GRCh37Chr 13, 32911992: 32911993
195BRCA2NM_000059.3(BRCA2): c.3599_3600delGT (p.Cys1200Terfs)deletionPathogenicrs80359391GRCh37Chr 13, 32912091: 32912092
196BRCA2NM_000059.3(BRCA2): c.3680_3681delTG (p.Leu1227Glnfs)deletionPathogenicrs80359395GRCh37Chr 13, 32912172: 32912173
197BRCA2NM_000059.3(BRCA2): c.3859_3860delAA (p.Asn1287Terfs)deletionPathogenicrs80359408GRCh37Chr 13, 32912351: 32912352
198BRCA2NM_000059.3(BRCA2): c.3860delA (p.Asn1287Ilefs)deletionPathogenicrs80359406GRCh37Chr 13, 32912352: 32912352
199BRCA2NM_000059.3(BRCA2): c.3975_3978dupTGCT (p.Ala1327Cysfs)duplicationLikely pathogenic, Pathogenicrs397515636GRCh37Chr 13, 32912467: 32912470
200BRCA2NM_000059.3(BRCA2): c.4048_4051delCATA (p.His1350Lysfs)deletionPathogenicrs80359423GRCh37Chr 13, 32912540: 32912543
201BRCA2NM_000059.3(BRCA2): c.4133_4136delCTCA (p.Thr1378Argfs)deletionPathogenicrs80359430GRCh37Chr 13, 32912625: 32912628
202BRCA2NM_000059.3(BRCA2): c.4285C> T (p.Gln1429Ter)single nucleotide variantPathogenicrs80358665GRCh37Chr 13, 32912777: 32912777
203BRCA2NM_000059.3(BRCA2): c.4398_4402delACATT (p.Leu1466Phefs)deletionPathogenicrs80359444GRCh37Chr 13, 32912890: 32912894
204BRCA2NM_000059.3(BRCA2): c.4440T> G (p.Tyr1480Ter)single nucleotide variantPathogenicrs397507719GRCh37Chr 13, 32912932: 32912932
205BRCA2NM_000059.3(BRCA2): c.4456_4459delGTTA (p.Val1486Asnfs)deletionPathogenicrs80359449GRCh37Chr 13, 32912948: 32912951
206BRCA2NM_000059.3(BRCA2): c.4471_4474delCTGA (p.Leu1491Lysfs)deletionPathogenicrs80359451GRCh37Chr 13, 32912963: 32912966
207BRCA2NM_000059.3(BRCA2): c.4478_4481delAAAG (p.Glu1493Valfs)deletionPathogenicrs80359454GRCh37Chr 13, 32912970: 32912973
208BRCA2NM_000059.3(BRCA2): c.4588A> T (p.Lys1530Ter)single nucleotide variantPathogenicrs80358692GRCh37Chr 13, 32913080: 32913080
209BRCA2NM_000059.3(BRCA2): c.462_463delAA (p.Asp156Terfs)deletionPathogenicrs80359459GRCh37Chr 13, 32900274: 32900275
210BRCA2NM_000059.3(BRCA2): c.4731_4736delATTAGCinsG (p.Leu1578Metfs)indelPathogenicrs276174846GRCh37Chr 13, 32913223: 32913228
211BRCA2NM_000059.3(BRCA2): c.475+1G> Tsingle nucleotide variantLikely pathogenic, Pathogenicrs81002797GRCh37Chr 13, 32900288: 32900288
212BRCA2NM_000059.3(BRCA2): c.475G> A (p.Val159Met)single nucleotide variantLikely pathogenic, Pathogenicrs80358702GRCh37Chr 13, 32900287: 32900287
213BRCA2NM_000059.3(BRCA2): c.4829_4830delTG (p.Val1610Glyfs)deletionPathogenicrs80359468GRCh37Chr 13, 32913321: 32913322
214BRCA2NM_000059.3(BRCA2): c.4889C> G (p.Ser1630Ter)single nucleotide variantPathogenicrs80358711GRCh37Chr 13, 32913381: 32913381
215BRCA2NM_000059.3(BRCA2): c.4947_4948delAA (p.Pro1651Cysfs)deletionPathogenicrs80359474GRCh37Chr 13, 32913439: 32913440
216BRCA2NM_000059.3(BRCA2): c.4965delC (p.Tyr1655Terfs)deletionPathogenicrs80359475GRCh37Chr 13, 32913457: 32913457
217BRCA2NM_000059.3(BRCA2): c.5130_5133delTGTA (p.Tyr1710Terfs)deletionPathogenicrs80359484GRCh37Chr 13, 32913622: 32913625
218BRCA2NM_000059.3(BRCA2): c.5141_5144delATTT (p.Tyr1714Cysfs)deletionPathogenicrs80359487GRCh37Chr 13, 32913633: 32913636
219BRCA2NM_000059.3(BRCA2): c.5146_5149delTATG (p.Tyr1716Lysfs)deletionPathogenicrs276174854GRCh37Chr 13, 32913638: 32913641
220BRCA2NM_000059.3(BRCA2): c.5158dupT (p.Ser1720Phefs)duplicationPathogenicrs80359489GRCh37Chr 13, 32913650: 32913650
221BRCA2NM_000059.3(BRCA2): c.5164_5165delAG (p.Ser1722Tyrfs)deletionPathogenicrs80359490GRCh37Chr 13, 32913656: 32913657
222BRCA2NM_000059.3(BRCA2): c.517-2A> Gsingle nucleotide variantLikely pathogenic, Pathogenicrs81002858GRCh37Chr 13, 32900634: 32900634
223BRCA2NM_000059.3(BRCA2): c.51_52delAC (p.Arg18Leufs)deletionPathogenicrs80359483GRCh37Chr 13, 32890648: 32890649
224BRCA2NM_000059.3(BRCA2): c.5217_5220delTTTA (p.Tyr1739Terfs)deletionPathogenicrs80359494GRCh37Chr 13, 32913709: 32913712
225BRCA2NM_000059.3(BRCA2): c.5217_5223delTTTAAGT (p.Tyr1739Terfs)deletionPathogenicrs80359496GRCh37Chr 13, 32913709: 32913715
226BRCA2NM_000059.3(BRCA2): c.5279C> G (p.Ser1760Ter)single nucleotide variantPathogenicrs80358751GRCh37Chr 13, 32913771: 32913771
227BRCA2NM_000059.3(BRCA2): c.5428G> A (p.Val1810Ile)single nucleotide variantPathogenicrs80358766GRCh37Chr 13, 32913920: 32913920
228BRCA2NM_000059.3(BRCA2): c.5542delA (p.Ser1848Valfs)deletionPathogenicrs80359519GRCh37Chr 13, 32914034: 32914034
229BRCA2NM_000059.3(BRCA2): c.5585_5588delTGAA (p.Val1862Glufs)deletionPathogenicrs80359523GRCh37Chr 13, 32914077: 32914080
230BRCA2NM_000059.3(BRCA2): c.5609_5610delTCinsAG (p.Phe1870Ter)indelPathogenicrs276174859GRCh37Chr 13, 32914101: 32914102
231BRCA2NM_000059.3(BRCA2): c.5616_5620delAGTAA (p.Lys1872Asnfs)deletionPathogenicrs80359525GRCh37Chr 13, 32914108: 32914112
232BRCA2NM_000059.3(BRCA2): c.5641_5644delAAAT (p.Lys1881Glnfs)deletionPathogenicrs276174860GRCh37Chr 13, 32914133: 32914136
233BRCA2NM_000059.3(BRCA2): c.5656C> T (p.Gln1886Ter)single nucleotide variantPathogenicrs80358790GRCh37Chr 13, 32914148: 32914148
234BRCA2NM_000059.3(BRCA2): c.581G> A (p.Trp194Ter)single nucleotide variantPathogenicrs80358809GRCh37Chr 13, 32900700: 32900700
235BRCA2NM_000059.3(BRCA2): c.5823delA (p.Val1942Phefs)deletionPathogenicrs80359540GRCh37Chr 13, 32914315: 32914315
236BRCA2NM_000059.3(BRCA2): c.5857G> T (p.Glu1953Ter)single nucleotide variantPathogenicrs80358814GRCh37Chr 13, 32914349: 32914349
237BRCA2NM_000059.3(BRCA2): c.5864C> A (p.Ser1955Ter)single nucleotide variantPathogenicrs80358815GRCh37Chr 13, 32914356: 32914356
238BRCA2NM_000059.3(BRCA2): c.6025C> T (p.Gln2009Ter)single nucleotide variantPathogenicrs80358838GRCh37Chr 13, 32914517: 32914517
239BRCA2NM_000059.3(BRCA2): c.6065C> G (p.Ser2022Ter)single nucleotide variantPathogenicrs80358843GRCh37Chr 13, 32914557: 32914557
240BRCA2NM_000059.3(BRCA2): c.6082_6086delGAAGA (p.Glu2028Lysfs)deletionPathogenicrs80359558GRCh37Chr 13, 32914574: 32914578
241BRCA2NM_000059.3(BRCA2): c.6124C> T (p.Gln2042Ter)single nucleotide variantPathogenicrs80358851GRCh37Chr 13, 32914616: 32914616
242BRCA2NM_000059.3(BRCA2): c.6164delT (p.Phe2055Serfs)deletionPathogenicrs397507831GRCh37Chr 13, 32914656: 32914656
243BRCA2NM_000059.3(BRCA2): c.6201delC (p.Ile2068Phefs)deletionPathogenicrs80359565GRCh37Chr 13, 32914693: 32914693
244BRCA2NM_000059.3(BRCA2): c.6209_6212delAAAG (p.Glu2070Valfs)deletionPathogenicrs276174866GRCh37Chr 13, 32914701: 32914704
245BRCA2NM_000059.3(BRCA2): c.6308C> A (p.Ser2103Ter)single nucleotide variantPathogenicrs80358870GRCh37Chr 13, 32914800: 32914800
246BRCA2NM_000059.3(BRCA2): c.631G> A (p.Val211Ile)single nucleotide variantPathogenicrs80358871GRCh37Chr 13, 32900750: 32900750
247BRCA2NM_000059.3(BRCA2): c.6352_6353delGT (p.Val2118Lysfs)deletionPathogenicrs80359576GRCh37Chr 13, 32914844: 32914845
248BRCA2NM_000059.3(BRCA2): c.6373delA (p.Thr2125Profs)deletionPathogenicrs80359578GRCh37Chr 13, 32914865: 32914865
249BRCA2NM_000059.3(BRCA2): c.6446_6450delTTAAA (p.Ile2149Serfs)deletionPathogenicrs80359593GRCh37Chr 13, 32914938: 32914942
250BRCA2NM_000059.3(BRCA2): c.6450dupA (p.Val2151Serfs)duplicationPathogenicrs80359595GRCh37Chr 13, 32914942: 32914942
251BRCA2NM_000059.3(BRCA2): c.6600_6601delTT (p.Ser2201Terfs)deletionPathogenicrs80359607GRCh37Chr 13, 32915092: 32915093
252BRCA2NM_000059.3(BRCA2): c.662_663delTT (p.Phe221Serfs)deletionPathogenicrs80359609GRCh37Chr 13, 32903610: 32903611
253BRCA2NM_000059.3(BRCA2): c.6676_6677delGA (p.Glu2226Serfs)deletionPathogenicrs80359619GRCh37Chr 13, 32915168: 32915169
254BRCA2NM_000059.3(BRCA2): c.6682dupG (p.Val2228Glyfs)duplicationPathogenicrs80359621GRCh37Chr 13, 32915174: 32915174
255BRCA2NM_000059.3(BRCA2): c.67+1G> Asingle nucleotide variantPathogenicrs81002796GRCh37Chr 13, 32890665: 32890665
256BRCA2NM_000059.3(BRCA2): c.67+1G> Tsingle nucleotide variantPathogenicrs81002796GRCh37Chr 13, 32890665: 32890665
257BRCA2NM_000059.3(BRCA2): c.67+2T> Csingle nucleotide variantPathogenicrs81002885GRCh37Chr 13, 32890666: 32890666
258BRCA2NM_000059.3(BRCA2): c.6757_6758delCT (p.Leu2253Phefs)deletionPathogenicrs80359623GRCh37Chr 13, 32915249: 32915250
259BRCA2NM_000059.3(BRCA2): c.6761_6762delTT (p.Phe2254Tyrfs)deletionPathogenicrs80359624GRCh37Chr 13, 32915253: 32915254
260BRCA2NM_000059.3(BRCA2): c.682-1G> Csingle nucleotide variantLikely pathogenic, Pathogenicrs81002831GRCh37Chr 13, 32905055: 32905055
261BRCA2NM_000059.3(BRCA2): c.7007G> C (p.Arg2336Pro)single nucleotide variantPathogenicrs28897743GRCh37Chr 13, 32921033: 32921033
262BRCA2NM_000059.3(BRCA2): c.7007G> T (p.Arg2336Leu)single nucleotide variantLikely pathogenic, Pathogenicrs28897743GRCh37Chr 13, 32921033: 32921033
263BRCA2NM_000059.3(BRCA2): c.7008-2A> Tsingle nucleotide variantPathogenicrs81002823GRCh37Chr 13, 32928996: 32928996
264BRCA2NM_000059.3(BRCA2): c.7024C> T (p.Gln2342Ter)single nucleotide variantPathogenicrs80358928GRCh37Chr 13, 32929014: 32929014
265BRCA2NM_000059.3(BRCA2): c.7025_7026delAA (p.Gln2342Argfs)deletionPathogenicrs80359634GRCh37Chr 13, 32929015: 32929016
266BRCA2NM_000059.3(BRCA2): c.7208_7211delCCAA (p.Thr2403Lysfs)deletionPathogenicrs80359641GRCh37Chr 13, 32929198: 32929201
267BRCA2NM_000059.3(BRCA2): c.7241C> G (p.Ser2414Ter)single nucleotide variantPathogenicrs80358951GRCh37Chr 13, 32929231: 32929231
268BRCA2NM_000059.3(BRCA2): c.7251_7252delCA (p.His2417Glnfs)deletionPathogenicrs397507907GRCh37Chr 13, 32929241: 32929242
269BRCA2NM_000059.3(BRCA2): c.7254_7255delAG (p.Arg2418Serfs)deletionPathogenicrs80359644GRCh37Chr 13, 32929244: 32929245
270BRCA2NM_000059.3(BRCA2): c.729_732delTGAT (p.Asn243Lysfs)deletionPathogenicrs80359645GRCh37Chr 13, 32905103: 32905106
271BRCA2NM_000059.3(BRCA2): c.7558C> T (p.Arg2520Ter)single nucleotide variantPathogenicrs80358981GRCh37Chr 13, 32930687: 32930687
272BRCA2NM_000059.3(BRCA2): c.7617+1G> Asingle nucleotide variantPathogenicrs397507922GRCh37Chr 13, 32930747: 32930747
273BRCA2NM_000059.3(BRCA2): c.7617+2T> Gsingle nucleotide variantPathogenicrs81002843GRCh37Chr 13, 32930748: 32930748
274BRCA2NM_000059.3(BRCA2): c.772C> T (p.Gln258Ter)single nucleotide variantPathogenicrs80358998GRCh37Chr 13, 32905146: 32905146
275BRCA2NM_000059.3(BRCA2): c.7757G> A (p.Trp2586Ter)single nucleotide variantPathogenicrs80359003GRCh37Chr 13, 32932018: 32932018
276BRCA2NM_000059.3(BRCA2): c.7762delA (p.Ile2588Tyrfs)deletionPathogenicrs80359679GRCh37Chr 13, 32932023: 32932023
277BRCA2NM_000059.3(BRCA2): c.7805+1G> Asingle nucleotide variantLikely pathogenic, Pathogenicrs81002809GRCh37Chr 13, 32932067: 32932067
278BRCA2NM_000059.3(BRCA2): c.7806-2A> Gsingle nucleotide variantLikely pathogenic, Pathogenicrs81002836GRCh37Chr 13, 32936658: 32936658
279BRCA2NM_000059.3(BRCA2): c.7847delC (p.Ser2616Leufs)deletionPathogenicrs80359685GRCh37Chr 13, 32936701: 32936701
280BRCA2NM_000059.3(BRCA2): c.7879A> T (p.Ile2627Phe)single nucleotide variantPathogenicrs80359014GRCh37Chr 13, 32936733: 32936733
281BRCA2NM_000059.3(BRCA2): c.793+1G> Asingle nucleotide variantPathogenicrs81002846GRCh37Chr 13, 32905168: 32905168
282BRCA2NM_000059.3(BRCA2): c.7976+1G> Asingle nucleotide variantLikely pathogenic, Pathogenicrs81002873GRCh37Chr 13, 32936831: 32936831
283BRCA2NM_000059.3(BRCA2): c.8167G> C (p.Asp2723His)single nucleotide variantPathogenicrs41293511GRCh37Chr 13, 32937506: 32937506
284BRCA2NM_000059.3(BRCA2): c.818C> A (p.Ser273Ter)single nucleotide variantPathogenicrs80359068GRCh37Chr 13, 32906433: 32906433
285BRCA2NM_000059.3(BRCA2): c.8243G> A (p.Gly2748Asp)single nucleotide variantPathogenicrs80359071GRCh37Chr 13, 32937582: 32937582
286BRCA2NM_000059.3(BRCA2): c.8377G> A (p.Gly2793Arg)single nucleotide variantLikely pathogenic, Pathogenicrs80359082GRCh37Chr 13, 32944584: 32944584
287BRCA2NM_000059.3(BRCA2): c.8487+1G> Asingle nucleotide variantPathogenicrs81002798GRCh37Chr 13, 32944695: 32944695
288BRCA2NM_000059.3(BRCA2): c.8489G> A (p.Trp2830Ter)single nucleotide variantPathogenicrs80359101GRCh37Chr 13, 32945094: 32945094
289BRCA2NM_000059.3(BRCA2): c.8575C> T (p.Gln2859Ter)single nucleotide variantPathogenicrs80359115GRCh37Chr 13, 32945180: 32945180
290BRCA2NM_000059.3(BRCA2): c.8594dupT (p.Leu2865Phefs)duplicationPathogenicrs80359721GRCh37Chr 13, 32945199: 32945199
291BRCA2NM_000059.3(BRCA2): c.8629G> T (p.Glu2877Ter)single nucleotide variantPathogenicrs80359121GRCh37Chr 13, 32945234: 32945234
292BRCA2NM_000059.3(BRCA2): c.8673_8674delAA (p.Arg2892Thrfs)deletionPathogenicrs80359724GRCh37Chr 13, 32950847: 32950848
293BRCA2NM_000059.3(BRCA2): c.8770G> T (p.Glu2924Ter)single nucleotide variantPathogenicrs80359133GRCh37Chr 13, 32953469: 32953469
294BRCA2NM_000059.3(BRCA2): c.8878C> T (p.Gln2960Ter)single nucleotide variantPathogenicrs80359140GRCh37Chr 13, 32953577: 32953577
295BRCA2NM_000059.3(BRCA2): c.8961_8964delGAGT (p.Ser2988Phefs)deletionPathogenicrs80359734GRCh37Chr 13, 32953894: 32953897
296BRCA2NM_000059.3(BRCA2): c.8970G> A (p.Trp2990Ter)single nucleotide variantPathogenicrs80359149GRCh37Chr 13, 32953903: 32953903
297BRCA2NM_000059.3(BRCA2): c.9069_9076delTAACATAC (p.Asn3024Valfs)deletionPathogenicrs80359746GRCh37Chr 13, 32954002: 32954009
298BRCA2NM_000059.3(BRCA2): c.906delC (p.Ser303Leufs)deletionPathogenicrs397508033GRCh37Chr 13, 32906521: 32906521
299BRCA2NM_000059.3(BRCA2): c.9100C> T (p.Gln3034Ter)single nucleotide variantPathogenicrs80359163GRCh37Chr 13, 32954033: 32954033
300BRCA2NM_000059.3(BRCA2): c.9118-2A> Gsingle nucleotide variantPathogenicrs81002862GRCh37Chr 13, 32954142: 32954142
301BRCA2NM_000059.3(BRCA2): c.9148C> T (p.Gln3050Ter)single nucleotide variantPathogenicrs80359170GRCh37Chr 13, 32954174: 32954174
302BRCA2NM_000059.3(BRCA2): c.9154C> T (p.Arg3052Trp)single nucleotide variantPathogenicrs45580035GRCh37Chr 13, 32954180: 32954180
303BRCA2NM_000059.3(BRCA2): c.9257-1G> Csingle nucleotide variantLikely pathogenic, Pathogenicrs81002889GRCh37Chr 13, 32968825: 32968825
304BRCA2NM_000059.3(BRCA2): c.9275_9278delATTT (p.Tyr3092Cysfs)deletionPathogenicrs80359754GRCh37Chr 13, 32968844: 32968847
305BRCA2NM_000059.3(BRCA2): c.9285C> G (p.Asp3095Glu)single nucleotide variantLikely pathogenic, Pathogenicrs80359198GRCh37Chr 13, 32968854: 32968854
306BRCA2NM_000059.3(BRCA2): c.9376C> T (p.Gln3126Ter)single nucleotide variantPathogenicrs80359210GRCh37Chr 13, 32968945: 32968945
307BRCA2NM_000059.3(BRCA2): c.9382C> T (p.Arg3128Ter)single nucleotide variantPathogenicrs80359212GRCh37Chr 13, 32968951: 32968951
308BRCA2NM_000059.3(BRCA2): c.9403delC (p.Leu3135Phefs)deletionPathogenicrs80359760GRCh37Chr 13, 32968972: 32968972
309BRCA2NM_000059.3(BRCA2): c.9513_9516delACTT (p.Leu3172Alafs)deletionLikely pathogenic, Pathogenicrs80359769GRCh37Chr 13, 32971046: 32971049
310BRCA2NM_000059.3(BRCA2): c.956dupA (p.Asn319Lysfs)duplicationPathogenicrs80359770GRCh37Chr 13, 32906571: 32906571
311BRCA2NM_000059.3(BRCA2): c.961C> T (p.Gln321Ter)single nucleotide variantPathogenicrs80359234GRCh37Chr 13, 32906576: 32906576
312BRCA2NM_000059.3(BRCA2): c.9883C> T (p.Gln3295Ter)single nucleotide variantLikely pathogenic, Pathogenicrs80359247GRCh37Chr 13, 32972533: 32972533
313BRCA2NM_000059.3(BRCA2): c.9924C> G (p.Tyr3308Ter)single nucleotide variantPathogenicrs4987049GRCh37Chr 13, 32972574: 32972574
314BRCA1NM_007294.3(BRCA1): c.2722G> T (p.Glu908Ter)single nucleotide variantLikely pathogenic, Pathogenicrs80356978GRCh37Chr 17, 41244826: 41244826
315BRCA1NM_007294.3(BRCA1): c.3661G> T (p.Glu1221Ter)single nucleotide variantPathogenicrs80357310GRCh37Chr 17, 41243887: 41243887
316CHEK2CHEK2, 1-BP DEL, 1100CdeletionPathogenic, risk factor
317APCNM_000038.5(APC): c.3920T> A (p.Ile1307Lys)single nucleotide variantPathogenic, risk factorrs1801155GRCh37Chr 5, 112175211: 112175211
318BRCA2NM_000059.3(BRCA2): c.3075_3076delGAinsTT (p.Lys1025_Lys1026delinsAsnTer)indelPathogenicrs587779362GRCh37Chr 13, 32911567: 32911568
319BRCA2NM_000059.3(BRCA2): c.5692delG (p.Asp1898Metfs)deletionPathogenicrs398122539GRCh37Chr 13, 32914184: 32914184
320BRCA2NM_000059.3(BRCA2): c.7556dupC (p.Arg2520Serfs)duplicationPathogenicrs80359660GRCh37Chr 13, 32930685: 32930685
321BRCA2NM_000059.3(BRCA2): c.8308delG (p.Ala2770Profs)deletionPathogenicrs398122601GRCh37Chr 13, 32937647: 32937647
322BRCA2NM_000059.3(BRCA2): c.9252_9255delAACAinsTT (p.Lys3084Asnfs)indelPathogenicrs276174918GRCh37Chr 13, 32954278: 32954281
323BRCA2NM_000059.3(BRCA2): c.9808delG (p.Ala3270Profs)deletionLikely pathogenic, Pathogenicrs398122622GRCh37Chr 13, 32972458: 32972458
324BRCA2NM_000059.3(BRCA2): c.8839G> T (p.Glu2947Ter)single nucleotide variantPathogenicrs398122715GRCh37Chr 13, 32953538: 32953538
325BRCA2NM_000059.3(BRCA2): c.2330dupA (p.Asp777Glufs)duplicationPathogenicrs80359328GRCh37Chr 13, 32910822: 32910822
326BRCA2NM_000059.3(BRCA2): c.2808delA (p.Lys936Asnfs)deletionPathogenicrs398122753GRCh37Chr 13, 32911300: 32911300
327BRCA2NM_000059.3(BRCA2): c.426-2A> Gsingle nucleotide variantPathogenicrs398122779GRCh37Chr 13, 32900236: 32900236
328BRCA2NM_000059.3(BRCA2): c.4325C> G (p.Ser1442Ter)single nucleotide variantPathogenicrs80358670GRCh37Chr 13, 32912817: 32912817
329BRCA2NM_000059.3(BRCA2): c.4552delG (p.Glu1518Asnfs)deletionPathogenicrs398122783GRCh37Chr 13, 32913044: 32913044
330BRCA2NM_000059.3(BRCA2): c.4964dupA (p.Tyr1655Terfs)duplicationPathogenicrs398122789GRCh37Chr 13, 32913456: 32913456
331BRCA2NM_000059.3(BRCA2): c.512dupT (p.Lys172Glufs)duplicationPathogenicrs398122793GRCh37Chr 13, 32900415: 32900415
332BRCA2NM_000059.3(BRCA2): c.6275_6276delTT (p.Leu2092Profs)deletionPathogenicrs11571658GRCh37Chr 13, 32914767: 32914768
333BRCA2NM_000059.3(BRCA2): c.6591_6592delTG (p.Glu2198Asnfs)deletionPathogenicrs80359605GRCh37Chr 13, 32915083: 32915084
334BRCA2NM_000059.3(BRCA2): c.5722_5723delCT (p.Leu1908Argfs)deletionPathogenicrs80359530GRCh37Chr 13, 32914214: 32914215
335BRCA2NM_000059.3(BRCA2): c.2808_2811del4 (p.Ala938Profs)deletionPathogenicrs80359351GRCh37Chr 13, 32911300: 32911303
336BRCA2NM_000059.3(BRCA2): c.5946delT (p.Ser1982Argfs)deletionPathogenicrs80359550GRCh37Chr 13, 32914438: 32914438
337BRCA2NM_000059.3(BRCA2): c.771_775delTCAAA (p.Asn257Lysfs)deletionPathogenicrs80359671GRCh37Chr 13, 32905145: 32905149
338BRCA2NM_000059.3(BRCA2): c.8537_8538delAG (p.Glu2846Glyfs)deletionPathogenicrs80359714GRCh37Chr 13, 32945142: 32945143
339BRCA2NM_000059.3(BRCA2): c.658_659delGT (p.Val220Ilefs)deletionPathogenicrs80359604GRCh37Chr 13, 32903606: 32903607
340BRCA2NM_000059.3(BRCA2): c.8219T> A (p.Leu2740Ter)single nucleotide variantPathogenicrs80359070GRCh37Chr 13, 32937558: 32937558
341BRCA2NM_000059.3(BRCA2): c.5645C> G (p.Ser1882Ter)single nucleotide variantPathogenic, risk factorrs80358785GRCh37Chr 13, 32914137: 32914137
342BRCA2NM_000059.3(BRCA2): c.9196C> T (p.Gln3066Ter)single nucleotide variantPathogenicrs80359180GRCh37Chr 13, 32954222: 32954222
343BRCA2NM_000059.3(BRCA2): c.631+1G> Asingle nucleotide variantPathogenicrs81002897GRCh37Chr 13, 32900751: 32900751
344BRCA2NM_000059.3(BRCA2): c.631+2T> Gsingle nucleotide variantPathogenicrs81002899GRCh37Chr 13, 32900752: 32900752
345BRCA2NM_000059.3(BRCA2): c.3779delT (p.Leu1260Tyrfs)deletionPathogenicrs431825312GRCh37Chr 13, 32912271: 32912271
346BRCA2NM_000059.3(BRCA2): c.4976_4977insG (p.Tyr1661Leufs)insertionPathogenicrs431825325GRCh37Chr 13, 32913468: 32913469
347BRCA2NM_000059.3(BRCA2): c.6211delA (p.Ser2071Valfs)deletionLikely pathogenic, Pathogenicrs431825338GRCh37Chr 13, 32914703: 32914703
348BRCA2NM_000059.3(BRCA2): c.6397dupT (p.Ser2133Phefs)duplicationPathogenicrs431825342GRCh37Chr 13, 32914889: 32914889
349BRCA2NM_000059.3(BRCA2): c.6959T> A (p.Leu2320Ter)single nucleotide variantPathogenicrs80358923GRCh37Chr 13, 32920985: 32920985
350BRCA2NM_000059.3(BRCA2): c.7985C> A (p.Thr2662Lys)single nucleotide variantPathogenicrs431825362GRCh37Chr 13, 32937324: 32937324
351BRCA2NM_000059.3(BRCA2): c.8463delT (p.Ile2822Phefs)deletionPathogenicrs431825365GRCh37Chr 13, 32944670: 32944670

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

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

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

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Pathways related to Brca2 Hereditary Breast and Ovarian Cancer Syndrome according to GeneCards Suite gene sharing:

(show all 12)
idSuper pathwaysScoreTop Affiliating Genes
19.2BRCA2, CHEK2
29.1BRCA1, CHEK2
3
Show member pathways
9.1BRCA1, CHEK2
4
Show member pathways
8.9BRCA1, BRCA2, PALB2
5
Show member pathways
8.9BRCA1, BRCA2, PALB2
6
Show member pathways
8.9BRCA1, BRCA2, PALB2
7
Show member pathways
8.7BRCA1, BRCA2, CHEK2
8
Show member pathways
8.7BRCA1, BRCA2, CHEK2
9
Show member pathways
8.7BRCA1, BRCA2, CHEK2
108.7BRCA1, BRCA2, CHEK2
118.2APC, BRCA1, BRCA2, CHEK2
12
Show member pathways
8.1BRCA1, BRCA2, CHEK2, PALB2

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

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Cellular components related to Brca2 Hereditary Breast and Ovarian Cancer Syndrome according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1nucleoplasmGO:00056547.5APC, BRCA1, BRCA2, CHEK2, PALB2

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

(show all 15)
idNameGO IDScoreTop Affiliating Genes
1DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediatorGO:000697810.0BRCA1, BRCA2
2chordate embryonic developmentGO:004300910.0BRCA1, BRCA2
3inner cell mass cell proliferationGO:00018339.9BRCA2, PALB2
4response to nutrientGO:00075849.8BRCA1, BRCA2
5multicellular organism growthGO:00352649.6BRCA2, PALB2
6response to gamma radiationGO:00103329.5BRCA2, CHEK2
7double-strand break repair via homologous recombinationGO:00007249.4BRCA1, BRCA2, PALB2
8chromosome breakageGO:00310529.4BRCA1, BRCA2, PALB2
9intrinsic apoptotic signaling pathway in response to DNA damageGO:00086309.0BRCA1, BRCA2, CHEK2
10regulation of signal transduction by p53 class mediatorGO:19017969.0BRCA1, CHEK2
11strand displacementGO:00007328.9BRCA1, BRCA2, PALB2
12double-strand break repairGO:00063028.9BRCA1, BRCA2, CHEK2
13DNA synthesis involved in DNA repairGO:00007318.9BRCA1, BRCA2, PALB2
14positive regulation of transcription, DNA-templatedGO:00458938.7BRCA1, BRCA2, CHEK2
15cellular response to DNA damage stimulusGO:00069748.3APC, BRCA1, BRCA2, CHEK2

Sources for Brca2 Hereditary Breast and Ovarian Cancer Syndrome

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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