MCID: BRC085
MIFTS: 39

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 45
Familial Susceptibility to Breast-Ovarian Cancer 2 45 24
Brca2 Hereditary Breast and Ovarian Cancer 22
 
Breast Cancer 22
Brovca2 45
Hboc 45

Classifications:



Summaries for Brca2 Hereditary Breast and Ovarian Cancer Syndrome

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NIH Rare Diseases:45 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 positive breast cancer and breast cancer. An important gene associated with Brca2 Hereditary Breast and Ovarian Cancer Syndrome is BRCA2 (Breast Cancer 2), and among its related pathways are FOXM1 transcription factor network and Homologous recombination. Affiliated tissues include breast, prostate and skin, and related mouse phenotypes are limbs/digits/tail 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 136)
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
4prostate cancer29.6ATM, BRCA1, BRCA2, CHEK2
5familial breast cancer12.7
6bilateral breast cancer12.5
7sporadic breast cancer12.4
8estrogen-receptor negative breast cancer12.4
9female breast cancer12.4
10androgen insensitivity, partial, with or without breast cancer12.3
11progesterone-receptor positive breast cancer12.3
12progesterone-receptor negative breast cancer12.3
13her2-receptor positive breast cancer12.3
14her2-receptor negative breast cancer12.3
15triple-receptor negative breast cancer12.3
16bard1-related susceptibility to breast cancer12.2
17brip1-related breast cancer12.2
18chek2-related susceptibility to breast cancer12.2
19rad51-related susceptibility to breast cancer12.2
20inflammatory breast carcinoma12.0
21gastric cancer risk after h. pylori infection11.7
22breast metaplastic carcinoma11.6
23brca1 hereditary breast and ovarian cancer syndrome11.6
24breast-ovarian cancer, familial, 211.6
25breast-ovarian cancer, familial 411.6
26breast-ovarian cancer, familial, 111.6
27breast-ovarian cancer, familial 311.6
28brca1 and brca2 hereditary breast and ovarian cancer11.5
29obesity11.3
30luminal breast carcinoma11.2
31rare malignant breast tumor11.2
32renal cell carcinoma11.1
33adenocarcinoma11.1
34psoriasis11.1
35cervical squamous cell carcinoma11.1
36li-fraumeni syndrome10.9
37hepatosplenic t-cell lymphoma10.9
38chronic interstitial cystitis10.9
39leukemia10.9
40endotheliitis10.8
41lymphoma10.8
42prostatitis10.8
43hepatitis10.8
44paraneoplastic cerebellar degeneration10.8
45neuronitis10.8
46ovarian cancer10.8
47breast fibroadenoma10.7
48paraneoplastic syndromes10.7
49pancreatitis10.7
50cerebritis10.7

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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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 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 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 Did 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
11Genetic Counseling for Breast Cancer Survivors (GC for BC)RecruitingNCT02451735
12Pancreatic Cancer GeneticsRecruitingNCT01102569
13Culturally-Informed Counseling in Latinas at High Risk for Hereditary Breast or Ovarian CancerRecruitingNCT01230346
14C-PATROL - Non-interventional Study (NIS) to Collect Clinical and Patient Reported Outcome Data in an Olaparib Treated BRCAm+ PSR Ovarian Cancer PopulationRecruitingNCT02503436
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 Brca2 Hereditary Breast and Ovarian Cancer22 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:

33
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:

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:00053877.6APC, 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 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 167)
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
3BRCA2NM_000059.3(BRCA2): c.7977-1G> Tsingle nucleotide variantPathogenicrs81002874GRCh38Chr 13, 32363178: 32363178
4BRCA2NM_000059.3(BRCA2): c.9672dupA (p.Tyr3225Ilefs)duplicationPathogenicrs80359773GRCh38Chr 13, 32398185: 32398185
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
7BRCA1NM_007294.3(BRCA1): c.3607C> T (p.Arg1203Ter)single nucleotide variantPathogenicrs62625308GRCh37Chr 17, 41243941: 41243941
8BRCA2NM_000059.3(BRCA2): c.774_775delAA (p.Glu260Serfs)deletionLikely pathogenic, Pathogenicrs786204273GRCh37Chr 13, 32905148: 32905149
9ATMNM_000051.3(ATM): c.7271T> G (p.Val2424Gly)single nucleotide variantPathogenic, risk factorrs28904921GRCh37Chr 11, 108199929: 108199929
10BRCA1NM_007294.3(BRCA1): c.594-2A> Csingle nucleotide variantLikely pathogenic, Pathogenicrs80358033GRCh37Chr 17, 41247941: 41247941
11BRCA2NM_000059.3(BRCA2): c.1257delT (p.Cys419Trpfs)deletionPathogenicrs80359272GRCh37Chr 13, 32906872: 32906872
12BRCA2NM_000059.3(BRCA2): c.1265delA (p.Asn422Ilefs)deletionPathogenicrs80359273GRCh37Chr 13, 32906880: 32906880
13BRCA2NM_000059.3(BRCA2): c.1296_1297delGA (p.Asn433Glnfs)deletionPathogenicrs80359276GRCh37Chr 13, 32906911: 32906912
14BRCA2NM_000059.3(BRCA2): c.1309_1312delAAAG (p.Lys437Ilefs)deletionPathogenicrs80359277GRCh37Chr 13, 32906925: 32906928
15BRCA2NM_000059.3(BRCA2): c.1796_1800delCTTAT (p.Ser599Terfs)deletionPathogenicrs276174813GRCh37Chr 13, 32907411: 32907415
16BRCA2NM_000059.3(BRCA2): c.1813dupA (p.Ile605Asnfs)duplicationPathogenicrs80359306GRCh37Chr 13, 32907428: 32907428
17BRCA2NM_000059.3(BRCA2): c.1813delA (p.Ile605Tyrfs)deletionPathogenicrs80359307GRCh37Chr 13, 32907428: 32907428
18BRCA2NM_000059.3(BRCA2): c.1929delG (p.Arg645Glufs)deletionPathogenicrs80359316GRCh37Chr 13, 32910421: 32910421
19BRCA2NM_000059.3(BRCA2): c.2426T> G (p.Leu809Ter)single nucleotide variantPathogenicrs397507285GRCh37Chr 13, 32910918: 32910918
20BRCA2NM_000059.3(BRCA2): c.2588dupA (p.Asn863Lysfs)duplicationPathogenicrs80359335GRCh37Chr 13, 32911080: 32911080
21BRCA2NM_000059.3(BRCA2): c.2979G> A (p.Trp993Ter)single nucleotide variantPathogenicrs80358544GRCh37Chr 13, 32911471: 32911471
22BRCA2NM_000059.3(BRCA2): c.3109C> T (p.Gln1037Ter)single nucleotide variantPathogenicrs80358557GRCh37Chr 13, 32911601: 32911601
23BRCA2NM_000059.3(BRCA2): c.3170_3174delAGAAA (p.Lys1057Thrfs)deletionPathogenicrs80359373GRCh37Chr 13, 32911662: 32911666
24BRCA2NM_000059.3(BRCA2): c.3264dupT (p.Gln1089Serfs)duplicationLikely pathogenic, Pathogenicrs80359380GRCh37Chr 13, 32911756: 32911756
25BRCA2NM_000059.3(BRCA2): c.3545_3546delTT (p.Phe1182Terfs)deletionLikely pathogenic, Pathogenicrs80359388GRCh37Chr 13, 32912037: 32912038
26BRCA2NM_000059.3(BRCA2): c.3717delA (p.Lys1239Asnfs)deletionPathogenicrs80359401GRCh37Chr 13, 32912209: 32912209
27BRCA2NM_000059.3(BRCA2): c.3847_3848delGT (p.Val1283Lysfs)deletionPathogenicrs80359405GRCh37Chr 13, 32912339: 32912340
28BRCA2NM_000059.3(BRCA2): c.3865_3868delAAAT (p.Lys1289Alafs)deletionPathogenicrs80359412GRCh37Chr 13, 32912357: 32912360
29BRCA2NM_000059.3(BRCA2): c.3922G> T (p.Glu1308Ter)single nucleotide variantPathogenicrs80358638GRCh37Chr 13, 32912414: 32912414
30BRCA2NM_000059.3(BRCA2): c.4058_4062delAAACG (p.Glu1353Glyfs)deletionPathogenicrs397507322GRCh37Chr 13, 32912550: 32912554
31BRCA2NM_000059.3(BRCA2): c.4127_4130delGAAA (p.Gly1376Alafs)deletionPathogenicrs397507323GRCh37Chr 13, 32912619: 32912622
32BRCA2NM_000059.3(BRCA2): c.4163_4164delCTinsA (p.Thr1388Asnfs)indelPathogenicrs276174843GRCh37Chr 13, 32912655: 32912656
33BRCA2NM_000059.3(BRCA2): c.4222C> T (p.Gln1408Ter)single nucleotide variantPathogenicrs80358663GRCh37Chr 13, 32912714: 32912714
34BRCA2NM_000059.3(BRCA2): c.4284dupT (p.Gln1429Serfs)duplicationLikely pathogenic, Pathogenicrs80359439GRCh37Chr 13, 32912776: 32912776
35BRCA2NM_000059.3(BRCA2): c.4415_4418delAGAA (p.Lys1472Thrfs)deletionPathogenicrs397507333GRCh37Chr 13, 32912907: 32912910
36BRCA2NM_000059.3(BRCA2): c.4472_4475delTGAA (p.Leu1491Glnfs)deletionPathogenicrs80359452GRCh37Chr 13, 32912964: 32912967
37BRCA2NM_000059.3(BRCA2): c.4631delA (p.Asn1544Thrfs)deletionPathogenicrs80359461GRCh37Chr 13, 32913123: 32913123
38BRCA2NM_000059.3(BRCA2): c.4638delT (p.Phe1546Leufs)deletionPathogenicrs80359462GRCh37Chr 13, 32913130: 32913130
39BRCA2NM_000059.3(BRCA2): c.4876_4877delAA (p.Asn1626Serfs)deletionPathogenicrs80359470GRCh37Chr 13, 32913368: 32913369
40BRCA2NM_000059.3(BRCA2): c.4936_4939delGAAA (p.Glu1646Glnfs)deletionPathogenicrs80359473GRCh37Chr 13, 32913428: 32913431
41BRCA2NM_000059.3(BRCA2): c.4965C> G (p.Tyr1655Ter)single nucleotide variantPathogenicrs80358721GRCh37Chr 13, 32913457: 32913457
42BRCA2NM_000059.3(BRCA2): c.5035delA (p.Thr1679Leufs)deletionPathogenicrs80359477GRCh37Chr 13, 32913527: 32913527
43BRCA2NM_000059.3(BRCA2): c.5042_5043delTG (p.Val1681Glufs)deletionPathogenicrs80359478GRCh37Chr 13, 32913534: 32913535
44BRCA2NM_000059.3(BRCA2): c.5073dupA (p.Trp1692Metfs)duplicationPathogenicrs80359480GRCh37Chr 13, 32913565: 32913565
45BRCA2NM_000059.3(BRCA2): c.5213_5216delCTTA (p.Thr1738Ilefs)deletionPathogenicrs80359493GRCh37Chr 13, 32913705: 32913708
46BRCA2NM_000059.3(BRCA2): c.5350_5351delAA (p.Asn1784Hisfs)deletionPathogenicrs80359507GRCh37Chr 13, 32913842: 32913843
47BRCA2NM_000059.3(BRCA2): c.5351dupA (p.Asn1784Lysfs)duplicationPathogenicrs80359508GRCh37Chr 13, 32913843: 32913843
48BRCA2NM_000059.3(BRCA2): c.5576_5579delTTAA (p.Ile1859Lysfs)deletionPathogenicrs80359520GRCh37Chr 13, 32914068: 32914071
49BRCA2NM_000059.3(BRCA2): c.5645C> A (p.Ser1882Ter)single nucleotide variantPathogenicrs80358785GRCh37Chr 13, 32914137: 32914137
50BRCA2NM_000059.3(BRCA2): c.5655C> A (p.Cys1885Ter)single nucleotide variantPathogenicrs80358789GRCh37Chr 13, 32914147: 32914147
51BRCA2NM_000059.3(BRCA2): c.5682C> G (p.Tyr1894Ter)single nucleotide variantPathogenicrs41293497GRCh37Chr 13, 32914174: 32914174
52BRCA2NM_000059.3(BRCA2): c.5782G> T (p.Glu1928Ter)single nucleotide variantPathogenicrs56253082GRCh37Chr 13, 32914274: 32914274
53BRCA2NM_000059.3(BRCA2): c.5799_5802delCCAA (p.Asn1933Lysfs)deletionPathogenicrs80359538GRCh37Chr 13, 32914291: 32914294
54BRCA2NM_000059.3(BRCA2): c.5828delC (p.Ser1943Leufs)deletionPathogenicrs80359541GRCh37Chr 13, 32914320: 32914320
55BRCA2NM_000059.3(BRCA2): c.5855T> A (p.Leu1952Ter)single nucleotide variantLikely pathogenic, Pathogenicrs375064902GRCh37Chr 13, 32914347: 32914347
56BRCA2NM_000059.3(BRCA2): c.5980C> T (p.Gln1994Ter)single nucleotide variantPathogenicrs80358831GRCh37Chr 13, 32914472: 32914472
57BRCA2NM_000059.3(BRCA2): c.6037A> T (p.Lys2013Ter)single nucleotide variantLikely pathogenic, Pathogenicrs80358840GRCh37Chr 13, 32914529: 32914529
58BRCA2NM_000059.3(BRCA2): c.6373dupA (p.Thr2125Asnfs)duplicationPathogenicrs80359577GRCh37Chr 13, 32914865: 32914865
59BRCA2NM_000059.3(BRCA2): c.6405_6409delCTTAA (p.Asn2135Lysfs)deletionPathogenicrs80359584GRCh37Chr 13, 32914897: 32914901
60BRCA2NM_000059.3(BRCA2): c.6468_6469delTC (p.Gln2157Ilefs)deletionPathogenicrs80359596GRCh37Chr 13, 32914960: 32914961
61BRCA2NM_000059.3(BRCA2): c.6566dupA (p.Asn2189Lysfs)duplicationPathogenicrs397507373GRCh37Chr 13, 32915058: 32915058
62BRCA2NM_000059.3(BRCA2): c.7007G> A (p.Arg2336His)single nucleotide variantLikely pathogenic, Pathogenicrs28897743GRCh37Chr 13, 32921033: 32921033
63BRCA2NM_000059.3(BRCA2): c.7069_7070delCT (p.Leu2357Valfs)deletionPathogenicrs80359636GRCh37Chr 13, 32929059: 32929060
64BRCA2NM_000059.3(BRCA2): c.755_758delACAG (p.Asp252Valfs)deletionPathogenicrs80359659GRCh37Chr 13, 32905129: 32905132
65BRCA2NM_000059.3(BRCA2): c.7618-1G> Asingle nucleotide variantPathogenicrs397507389GRCh37Chr 13, 32931878: 32931878
66BRCA2NM_000059.3(BRCA2): c.778_779delGA (p.Glu260Serfs)deletionPathogenicrs80359677GRCh37Chr 13, 32905152: 32905153
67BRCA2NM_000059.3(BRCA2): c.7878G> A (p.Trp2626Ter)single nucleotide variantPathogenicrs80359013GRCh37Chr 13, 32936732: 32936732
68BRCA2NM_000059.3(BRCA2): c.7977-1G> Csingle nucleotide variantPathogenicrs81002874GRCh37Chr 13, 32937315: 32937315
69BRCA2NM_000059.3(BRCA2): c.8297delC (p.Thr2766Asnfs)deletionPathogenicrs80359705GRCh37Chr 13, 32937636: 32937636
70BRCA2NM_000059.3(BRCA2): c.8575delC (p.Gln2859Lysfs)deletionPathogenicrs80359718GRCh37Chr 13, 32945180: 32945180
71BRCA2NM_000059.3(BRCA2): c.8904delC (p.Val2969Cysfs)deletionPathogenicrs80359730GRCh37Chr 13, 32953603: 32953603
72BRCA2NM_000059.3(BRCA2): c.9004G> A (p.Glu3002Lys)single nucleotide variantLikely pathogenic, Pathogenicrs80359152GRCh37Chr 13, 32953937: 32953937
73BRCA2NM_000059.3(BRCA2): c.9097dupA (p.Thr3033Asnfs)duplicationPathogenicrs397507419GRCh37Chr 13, 32954030: 32954030
74BRCA2NM_000059.3(BRCA2): c.9117G> A (p.Pro3039=)single nucleotide variantPathogenicrs28897756GRCh37Chr 13, 32954050: 32954050
75BRCA2NM_000059.3(BRCA2): c.9253dupA (p.Thr3085Asnfs)duplicationLikely pathogenic, Pathogenicrs80359752GRCh37Chr 13, 32954279: 32954279
76BRCA2NM_000059.3(BRCA2): c.9294C> G (p.Tyr3098Ter)single nucleotide variantPathogenicrs80359200GRCh37Chr 13, 32968863: 32968863
77BRCA2NM_000059.3(BRCA2): c.9371A> T (p.Asn3124Ile)single nucleotide variantPathogenicrs28897759GRCh37Chr 13, 32968940: 32968940
78BRCA2NM_000059.3(BRCA2): c.9435_9436delGT (p.Ser3147Cysfs)deletionPathogenicrs80359763GRCh37Chr 13, 32969004: 32969005
79BRCA2NM_000059.3(BRCA2): c.9699_9702delTATG (p.Cys3233Trpfs)deletionLikely pathogenic, Pathogenicrs80359775GRCh37Chr 13, 32972349: 32972352
80BRCA2NM_000059.3(BRCA2): c.5482_5486delAAATT (p.Lys1828Valfs)deletionPathogenicrs80359516GRCh37Chr 13, 32913974: 32913978
81BRCA2NM_000059.3(BRCA2): c.1138delA (p.Ser380Valfs)deletionPathogenicrs80359264GRCh37Chr 13, 32906753: 32906753
82BRCA2NM_000059.3(BRCA2): c.1389_1390delAG (p.Val464Glyfs)deletionPathogenicrs80359283GRCh37Chr 13, 32907004: 32907005
83BRCA2NM_000059.3(BRCA2): c.1411G> T (p.Glu471Ter)single nucleotide variantPathogenicrs80358428GRCh37Chr 13, 32907026: 32907026
84BRCA2NM_000059.3(BRCA2): c.145G> T (p.Glu49Ter)single nucleotide variantLikely pathogenic, Pathogenicrs80358435GRCh37Chr 13, 32893291: 32893291
85BRCA2NM_000059.3(BRCA2): c.1763_1766delATAA (p.Asn588Serfs)deletionPathogenicrs80359303GRCh37Chr 13, 32907378: 32907381
86BRCA2NM_000059.3(BRCA2): c.1773_1776delTTAT (p.Ile591Metfs)deletionPathogenicrs80359304GRCh37Chr 13, 32907388: 32907391
87BRCA2NM_000059.3(BRCA2): c.1855C> T (p.Gln619Ter)single nucleotide variantPathogenicrs80358476GRCh37Chr 13, 32907470: 32907470
88BRCA2NM_000059.3(BRCA2): c.250C> T (p.Gln84Ter)single nucleotide variantPathogenicrs80358515GRCh37Chr 13, 32893396: 32893396
89BRCA2NM_000059.3(BRCA2): c.262_263delCT (p.Leu88Alafs)deletionPathogenicrs276174825GRCh37Chr 13, 32893408: 32893409
90BRCA2NM_000059.3(BRCA2): c.26delC (p.Pro9Glnfs)deletionPathogenicrs80359343GRCh37Chr 13, 32890623: 32890623
91BRCA2NM_000059.3(BRCA2): c.2812_2815delGCAA (p.Ala938Profs)deletionPathogenicrs80359354GRCh37Chr 13, 32911304: 32911307
92BRCA2NM_000059.3(BRCA2): c.2836_2837delGA (p.Asp946Phefs)deletionPathogenicrs80359357GRCh37Chr 13, 32911328: 32911329
93BRCA2NM_000059.3(BRCA2): c.2957dupA (p.Asn986Lysfs)duplicationPathogenicrs80359365GRCh37Chr 13, 32911449: 32911449
94BRCA2NM_000059.3(BRCA2): c.316+5G> Asingle nucleotide variantLikely pathogenic, Pathogenicrs81002840GRCh37Chr 13, 32893467: 32893467
95BRCA2NM_000059.3(BRCA2): c.3166C> T (p.Gln1056Ter)single nucleotide variantPathogenicrs79728106GRCh37Chr 13, 32911658: 32911658
96BRCA2NM_000059.3(BRCA2): c.3599_3600delGT (p.Cys1200Terfs)deletionPathogenicrs80359391GRCh37Chr 13, 32912091: 32912092
97BRCA2NM_000059.3(BRCA2): c.3680_3681delTG (p.Leu1227Glnfs)deletionPathogenicrs80359395GRCh37Chr 13, 32912172: 32912173
98BRCA2NM_000059.3(BRCA2): c.4133_4136delCTCA (p.Thr1378Argfs)deletionPathogenicrs80359430GRCh37Chr 13, 32912625: 32912628
99BRCA2NM_000059.3(BRCA2): c.4398_4402delACATT (p.Leu1466Phefs)deletionPathogenicrs80359444GRCh37Chr 13, 32912890: 32912894
100BRCA2NM_000059.3(BRCA2): c.4471_4474delCTGA (p.Leu1491Lysfs)deletionPathogenicrs80359451GRCh37Chr 13, 32912963: 32912966
101BRCA2NM_000059.3(BRCA2): c.4478_4481delAAAG (p.Glu1493Valfs)deletionLikely pathogenic, Pathogenicrs80359454GRCh37Chr 13, 32912970: 32912973
102BRCA2NM_000059.3(BRCA2): c.475+1G> Tsingle nucleotide variantLikely pathogenic, Pathogenicrs81002797GRCh37Chr 13, 32900288: 32900288
103BRCA2NM_000059.3(BRCA2): c.4889C> G (p.Ser1630Ter)single nucleotide variantPathogenicrs80358711GRCh37Chr 13, 32913381: 32913381
104BRCA2NM_000059.3(BRCA2): c.4947_4948delAA (p.Pro1651Cysfs)deletionPathogenicrs80359474GRCh37Chr 13, 32913439: 32913440
105BRCA2NM_000059.3(BRCA2): c.4965delC (p.Tyr1655Terfs)deletionPathogenicrs80359475GRCh37Chr 13, 32913457: 32913457
106BRCA2NM_000059.3(BRCA2): c.5130_5133delTGTA (p.Tyr1710Terfs)deletionPathogenicrs80359484GRCh37Chr 13, 32913622: 32913625
107BRCA2NM_000059.3(BRCA2): c.5158dupT (p.Ser1720Phefs)duplicationPathogenicrs80359489GRCh37Chr 13, 32913650: 32913650
108BRCA2NM_000059.3(BRCA2): c.5609_5610delTCinsAG (p.Phe1870Ter)indelPathogenicrs276174859GRCh37Chr 13, 32914101: 32914102
109BRCA2NM_000059.3(BRCA2): c.5616_5620delAGTAA (p.Lys1872Asnfs)deletionPathogenicrs80359525GRCh37Chr 13, 32914108: 32914112
110BRCA2NM_000059.3(BRCA2): c.5656C> T (p.Gln1886Ter)single nucleotide variantPathogenicrs80358790GRCh37Chr 13, 32914148: 32914148
111BRCA2NM_000059.3(BRCA2): c.581G> A (p.Trp194Ter)single nucleotide variantPathogenicrs80358809GRCh37Chr 13, 32900700: 32900700
112BRCA2NM_000059.3(BRCA2): c.5857G> T (p.Glu1953Ter)single nucleotide variantPathogenicrs80358814GRCh37Chr 13, 32914349: 32914349
113BRCA2NM_000059.3(BRCA2): c.5864C> A (p.Ser1955Ter)single nucleotide variantLikely pathogenic, Pathogenicrs80358815GRCh37Chr 13, 32914356: 32914356
114BRCA2NM_000059.3(BRCA2): c.6124C> T (p.Gln2042Ter)single nucleotide variantPathogenicrs80358851GRCh37Chr 13, 32914616: 32914616
115BRCA2NM_000059.3(BRCA2): c.6446_6450delTTAAA (p.Ile2149Serfs)deletionPathogenicrs80359593GRCh37Chr 13, 32914938: 32914942
116BRCA2NM_000059.3(BRCA2): c.67+1G> Tsingle nucleotide variantPathogenicrs81002796GRCh37Chr 13, 32890665: 32890665
117BRCA2NM_000059.3(BRCA2): c.67+2T> Csingle nucleotide variantPathogenicrs81002885GRCh37Chr 13, 32890666: 32890666
118BRCA2NM_000059.3(BRCA2): c.7251_7252delCA (p.His2417Glnfs)deletionPathogenicrs397507907GRCh37Chr 13, 32929241: 32929242
119BRCA2NM_000059.3(BRCA2): c.729_732delTGAT (p.Asn243Lysfs)deletionPathogenicrs80359645GRCh37Chr 13, 32905103: 32905106
120BRCA2NM_000059.3(BRCA2): c.7558C> T (p.Arg2520Ter)single nucleotide variantPathogenicrs80358981GRCh37Chr 13, 32930687: 32930687
121BRCA2NM_000059.3(BRCA2): c.7617+1G> Asingle nucleotide variantPathogenicrs397507922GRCh37Chr 13, 32930747: 32930747
122BRCA2NM_000059.3(BRCA2): c.7617+2T> Gsingle nucleotide variantPathogenicrs81002843GRCh37Chr 13, 32930748: 32930748
123BRCA2NM_000059.3(BRCA2): c.772C> T (p.Gln258Ter)single nucleotide variantPathogenicrs80358998GRCh37Chr 13, 32905146: 32905146
124BRCA2NM_000059.3(BRCA2): c.7757G> A (p.Trp2586Ter)single nucleotide variantPathogenicrs80359003GRCh37Chr 13, 32932018: 32932018
125BRCA2NM_000059.3(BRCA2): c.7762delA (p.Ile2588Tyrfs)deletionPathogenicrs80359679GRCh37Chr 13, 32932023: 32932023
126BRCA2NM_000059.3(BRCA2): c.8167G> C (p.Asp2723His)single nucleotide variantPathogenicrs41293511GRCh37Chr 13, 32937506: 32937506
127BRCA2NM_000059.3(BRCA2): c.8377G> A (p.Gly2793Arg)single nucleotide variantLikely pathogenic, Pathogenicrs80359082GRCh37Chr 13, 32944584: 32944584
128BRCA2NM_000059.3(BRCA2): c.8487+1G> Asingle nucleotide variantPathogenicrs81002798GRCh37Chr 13, 32944695: 32944695
129BRCA2NM_000059.3(BRCA2): c.8575C> T (p.Gln2859Ter)single nucleotide variantPathogenicrs80359115GRCh37Chr 13, 32945180: 32945180
130BRCA2NM_000059.3(BRCA2): c.8594dupT (p.Leu2865Phefs)duplicationPathogenicrs80359721GRCh37Chr 13, 32945199: 32945199
131BRCA2NM_000059.3(BRCA2): c.8770G> T (p.Glu2924Ter)single nucleotide variantPathogenicrs80359133GRCh37Chr 13, 32953469: 32953469
132BRCA2NM_000059.3(BRCA2): c.8878C> T (p.Gln2960Ter)single nucleotide variantPathogenicrs80359140GRCh37Chr 13, 32953577: 32953577
133BRCA2NM_000059.3(BRCA2): c.8970G> A (p.Trp2990Ter)single nucleotide variantPathogenicrs80359149GRCh37Chr 13, 32953903: 32953903
134BRCA2NM_000059.3(BRCA2): c.9154C> T (p.Arg3052Trp)single nucleotide variantPathogenicrs45580035GRCh37Chr 13, 32954180: 32954180
135BRCA2NM_000059.3(BRCA2): c.9275_9278delATTT (p.Tyr3092Cysfs)deletionPathogenicrs80359754GRCh37Chr 13, 32968844: 32968847
136BRCA2NM_000059.3(BRCA2): c.9285C> G (p.Asp3095Glu)single nucleotide variantLikely pathogenic, Pathogenicrs80359198GRCh37Chr 13, 32968854: 32968854
137BRCA2NM_000059.3(BRCA2): c.9376C> T (p.Gln3126Ter)single nucleotide variantPathogenicrs80359210GRCh37Chr 13, 32968945: 32968945
138BRCA2NM_000059.3(BRCA2): c.9382C> T (p.Arg3128Ter)single nucleotide variantPathogenicrs80359212GRCh37Chr 13, 32968951: 32968951
139BRCA2NM_000059.3(BRCA2): c.956dupA (p.Asn319Lysfs)duplicationPathogenicrs80359770GRCh37Chr 13, 32906571: 32906571
140BRCA2NM_000059.3(BRCA2): c.9924C> G (p.Tyr3308Ter)single nucleotide variantLikely pathogenic, Pathogenicrs4987049GRCh37Chr 13, 32972574: 32972574
141BRCA1NM_007294.3(BRCA1): c.2722G> T (p.Glu908Ter)single nucleotide variantPathogenicrs80356978GRCh37Chr 17, 41244826: 41244826
142BRCA1NM_007294.3(BRCA1): c.3661G> T (p.Glu1221Ter)single nucleotide variantPathogenicrs80357310GRCh37Chr 17, 41243887: 41243887
143CHEK2CHEK2, 1-BP DEL, 1100CdeletionPathogenic, risk factor
144APCNM_000038.5(APC): c.3920T> A (p.Ile1307Lys)single nucleotide variantPathogenic, risk factorrs1801155GRCh37Chr 5, 112175211: 112175211
145BRCA2NM_000059.3(BRCA2): c.9252_9255delAACAinsTT (p.Lys3084Asnfs)indelPathogenicrs276174918GRCh37Chr 13, 32954278: 32954281
146BRCA2NM_000059.3(BRCA2): c.9808delG (p.Ala3270Profs)deletionLikely pathogenic, Pathogenicrs398122622GRCh37Chr 13, 32972458: 32972458
147BRCA2NM_000059.3(BRCA2): c.8839G> T (p.Glu2947Ter)single nucleotide variantPathogenicrs398122715GRCh37Chr 13, 32953538: 32953538
148BRCA2NM_000059.3(BRCA2): c.2330dupA (p.Asp777Glufs)duplicationPathogenicrs80359328GRCh37Chr 13, 32910822: 32910822
149BRCA2NM_000059.3(BRCA2): c.2808delA (p.Lys936Asnfs)deletionPathogenicrs398122753GRCh37Chr 13, 32911300: 32911300
150BRCA2NM_000059.3(BRCA2): c.4552delG (p.Glu1518Asnfs)deletionPathogenicrs398122783GRCh37Chr 13, 32913044: 32913044
151BRCA2NM_000059.3(BRCA2): c.6275_6276delTT (p.Leu2092Profs)deletionPathogenicrs11571658GRCh37Chr 13, 32914767: 32914768
152BRCA2NM_000059.3(BRCA2): c.6591_6592delTG (p.Glu2198Asnfs)deletionPathogenicrs80359605GRCh37Chr 13, 32915083: 32915084
153BRCA2NM_000059.3(BRCA2): c.5722_5723delCT (p.Leu1908Argfs)deletionPathogenicrs80359530GRCh37Chr 13, 32914214: 32914215
154BRCA2NM_000059.3(BRCA2): c.2808_2811del4 (p.Ala938Profs)deletionPathogenicrs80359351GRCh37Chr 13, 32911300: 32911303
155BRCA2NM_000059.3(BRCA2): c.5946delT (p.Ser1982Argfs)deletionPathogenic, risk factorrs80359550GRCh37Chr 13, 32914438: 32914438
156BRCA2NM_000059.3(BRCA2): c.771_775delTCAAA (p.Asn257Lysfs)deletionPathogenicrs80359671GRCh37Chr 13, 32905145: 32905149
157BRCA2NM_000059.3(BRCA2): c.8537_8538delAG (p.Glu2846Glyfs)deletionPathogenicrs80359714GRCh37Chr 13, 32945142: 32945143
158BRCA2NM_000059.3(BRCA2): c.658_659delGT (p.Val220Ilefs)deletionPathogenic, risk factorrs80359604GRCh37Chr 13, 32903606: 32903607
159BRCA2NM_000059.3(BRCA2): c.5645C> G (p.Ser1882Ter)single nucleotide variantPathogenic, risk factorrs80358785GRCh37Chr 13, 32914137: 32914137
160BRCA2NM_000059.3(BRCA2): c.9196C> T (p.Gln3066Ter)single nucleotide variantPathogenicrs80359180GRCh37Chr 13, 32954222: 32954222
161BRCA2NM_000059.3(BRCA2): c.631+1G> Asingle nucleotide variantPathogenicrs81002897GRCh37Chr 13, 32900751: 32900751
162BRCA2NM_000059.3(BRCA2): c.631+2T> Gsingle nucleotide variantPathogenicrs81002899GRCh37Chr 13, 32900752: 32900752
163BRCA2NM_000059.3(BRCA2): c.3779delT (p.Leu1260Tyrfs)deletionPathogenicrs431825312GRCh37Chr 13, 32912271: 32912271
164BRCA2NM_000059.3(BRCA2): c.4976_4977insG (p.Tyr1661Leufs)insertionPathogenicrs431825325GRCh37Chr 13, 32913468: 32913469
165BRCA2NM_000059.3(BRCA2): c.7985C> A (p.Thr2662Lys)single nucleotide variantPathogenicrs431825362GRCh37Chr 13, 32937324: 32937324
166BRCA2NM_000059.3(BRCA2): c.8463delT (p.Ile2822Phefs)deletionPathogenicrs431825365GRCh37Chr 13, 32944670: 32944670
167BRCA2NM_000059.3(BRCA2): c.9945delA (p.Glu3316Asnfs)deletionPathogenicrs431825381GRCh37Chr 13, 32972595: 32972595

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 32)
idSuper pathwaysScoreTop Affiliating Genes
19.4BRCA2, CHEK2
29.2ATM, BRCA2
39.1ATM, BRCA1
49.1ATM, BRCA1
59.1ATM, BRCA1
69.1ATM, BRCA1
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
8.7ATM, BRCA1, BRCA2
13
Show member pathways
8.7ATM, BRCA1, BRCA2
148.6APC, ATM, BRCA1
158.5ATM, BRCA1, CHEK2
16
Show member pathways
8.5ATM, BRCA1, CHEK2
17
Show member pathways
8.5ATM, BRCA1, CHEK2
18
Show member pathways
8.5ATM, BRCA1, CHEK2
19
Show member pathways
8.5ATM, BRCA1, CHEK2
20
Show member pathways
8.5ATM, BRCA1, CHEK2
21
Show member pathways
8.5ATM, 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
8.1ATM, BRCA1, BRCA2, CHEK2
26
Show member pathways
8.1ATM, BRCA1, BRCA2, CHEK2
27
Show member pathways
8.1ATM, BRCA1, BRCA2, CHEK2
288.1ATM, BRCA1, BRCA2, CHEK2
298.1ATM, 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 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
1protein complexGO:00432349.4APC, BRCA1

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

(show all 20)
idNameGO IDScoreTop Affiliating Genes
1inner cell mass cell proliferationGO:00018339.9BRCA2, PALB2
2DNA recombinationGO:00063109.9BRCA1, BRCA2
3DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediatorGO:00069789.8BRCA1, BRCA2
4response to nutrientGO:00075849.8BRCA1, BRCA2
5chordate embryonic developmentGO:00430099.6BRCA1, BRCA2
6somitogenesisGO:00017569.6ATM, PALB2
7response to gamma radiationGO:00103329.6BRCA2, CHEK2
8cell cycle arrestGO:00070509.6APC, ATM
9double-strand break repairGO:00063029.6ATM, PALB2
10DNA damage induced protein phosphorylationGO:00069759.5ATM, CHEK2
11DNA double-strand break processingGO:00007299.5ATM, BRCA1
12response to ionizing radiationGO:00102129.5ATM, BRCA1
13regulation of signal transduction by p53 class mediatorGO:19017969.4ATM, CHEK2
14DNA synthesis involved in DNA repairGO:00007319.1ATM, BRCA1, BRCA2
15strand displacementGO:00007329.0ATM, 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 Brca2 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