HBOC
MCID: BRC085
MIFTS: 45

Brca2 Hereditary Breast and Ovarian Cancer Syndrome (HBOC) 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 48
Familial Susceptibility to Breast-Ovarian Cancer 2 48 27
Brca2 Hereditary Breast and Ovarian Cancer 24
Malignant Neoplasm of Breast 68
 
Breast Carcinoma 68
Breast Cancer 24
Brovca2 48
Hboc 48

Classifications:



Summaries for Brca2 Hereditary Breast and Ovarian Cancer Syndrome

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NIH Rare Diseases:48 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, and has symptoms including pelvic pain An important gene associated with Brca2 Hereditary Breast and Ovarian Cancer Syndrome is PTEN (Phosphatase And Tensin Homolog), and among its related pathways are Copper homeostasis and Ovarian tumor domain proteases. Affiliated tissues include breast, prostate and skin, and related mouse phenotypes are Decreased viability with cisplatin and Synthetic lethal with cisplatin.

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 110)
idRelated DiseaseScoreTop Affiliating Genes
1estrogen-receptor positive breast cancer32.9BRCA1, BRCA2
2breast cancer12.7
3familial breast cancer12.4
4brca1 and brca2 hereditary breast and ovarian cancer12.4
5bilateral breast cancer12.2
6sporadic breast cancer12.0
7estrogen-receptor negative breast cancer12.0
8female breast cancer11.9
9progesterone-receptor positive breast cancer11.9
10triple-receptor negative breast cancer11.9
11progesterone-receptor negative breast cancer11.9
12inflammatory breast carcinoma11.9
13androgen insensitivity, partial, with or without breast cancer11.8
14her2-receptor positive breast cancer11.8
15her2-receptor negative breast cancer11.8
16breast cancer, childhood11.8
17bard1-related susceptibility to breast cancer11.7
18breast cancer susceptibility, xrcc3-related11.7
19brip1-related breast cancer11.7
20chek2-related susceptibility to breast cancer11.7
21rad51-related susceptibility to breast cancer11.7
22gastric cancer risk after h. pylori infection11.4
23breast metaplastic carcinoma11.4
24brca1 hereditary breast and ovarian cancer syndrome11.4
25breast-ovarian cancer, familial, 211.4
26breast-ovarian cancer, familial 411.4
27breast-ovarian cancer, familial, 111.4
28breast-ovarian cancer, familial 311.4
29li-fraumeni syndrome11.4
30pancreatic cancer11.2
31ovarian cancer11.2
32paraneoplastic cerebellar degeneration11.2
33breast fibroadenoma11.2
34granulomatous lobular mastitis11.2
35adenocarcinoma11.1
36paraneoplastic syndromes11.1
37breast sarcoma11.0
38obesity10.9
39comedo carcinoma10.9
40luminal breast carcinoma10.7
41precocious puberty, central, 210.7
42precocious puberty, central, 110.7
43fibrosclerosis of breast10.7
44ocular cancer10.7
45hereditary breast ovarian cancer10.7
46mondor disease10.7
47paraneoplastic neurologic disorders10.7
48endotheliitis10.6
49renal cell carcinoma10.6
50hypoxia10.5

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 & Phenotypes 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

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

26
idDescriptionGenomeRNAi Source AccessionScoreTop Affiliating Genes
1GR00101-A-49.8BRCA1, BRCA2, BRIP1
2GR00101-A-19.6BRCA1, BRCA2, BRIP1
3GR00232-A-29.6ATM, BRCA1, BRCA2
4GR00093-A-09.4ATM, CHEK2, PTEN
5GR00381-A-18.9ATM, BRCA1, CHEK2
6GR00250-A-37.7ATM, BRCA1, BRCA2, BRIP1, CHEK2, PALB2
7GR00151-A-27.4BRCA1, BRCA2, PALB2, ATM, BRCA1, BRCA2
8GR00250-A-14.0ATM, BRCA1, BRCA2, BRIP1, CHEK2, PALB2

MGI Mouse Phenotypes related to Brca2 Hereditary Breast and Ovarian Cancer Syndrome according to GeneCards Suite gene sharing:

41 (show all 13)
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053718.6APC, BRCA1, BRCA2, PALB2, PTEN
2MP:00053758.3APC, ATM, BRCA1, PTEN
3MP:00053808.1APC, ATM, BRCA1, BRCA2, PALB2, PTEN
4MP:00053898.1APC, ATM, BRCA1, BRCA2, BRIP1, PTEN
5MP:00107717.7APC, ATM, BRCA1, BRCA2, PALB2, PTEN
6MP:00053877.5APC, ATM, BRCA1, BRCA2, CHEK2, PTEN
7MP:00053977.3APC, ATM, BRCA1, BRCA2, CHEK2, PTEN
8MP:00053767.1APC, ATM, BRCA1, BRCA2, BRIP1, CHEK2
9MP:00107687.1APC, ATM, BRCA1, BRCA2, CHEK2, PALB2
10MP:00053796.9APC, ATM, BRCA1, BRCA2, BRIP1, CHEK2
11MP:00020066.9APC, ATM, BRCA1, BRCA2, BRIP1, CHEK2
12MP:00053846.6APC, ATM, BRCA1, BRCA2, BRIP1, CHEK2
13MP:00036316.4APC, ATM, BRCA1, BRCA2, BRIP1, CHEK2

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 14)
idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1
OlaparibapprovedPhase 1, Phase 2140763113-22-023725625
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 2340
3AntibodiesPhase 1, Phase 26394
4ImmunoglobulinsPhase 1, Phase 26394
5
tremelimumabPhase 1, Phase 2115
Synonyms:
206
CP675
 
CP675206
Ticilimumab
tremelimumab
6Antibodies, MonoclonalPhase 1, Phase 24039
7
CarboplatinapprovedPhase 1205041575-94-410339178, 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+)
8
Paclitaxelapproved, vet_approvedPhase 1286433069-62-436314
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
9
VeliparibinvestigationalPhase 199912444-00-911960529
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
10Albumin-Bound PaclitaxelPhase 12864
11Antineoplastic Agents, PhytogenicPhase 15602
12Antimitotic AgentsPhase 15657
13
Pancrelipaseapproved97053608-75-6
Synonyms:
1,4-alpha-D- glucan glucanohydrolase
PA
 
Pancreatic alpha-amylase precursor
Pancrelipase (amylase
lipase
protease)
14pancreatin970

Interventional clinical trials:

(show all 17)
idNameStatusNCT IDPhase
1Methods in Education for Breast Cancer GeneticsActive, not recruitingNCT00001806Phase 3
2Trial of Inquiry Based Stress Reduction (IBSR) Program for BRCA1/2 Mutation CarriersNot yet recruitingNCT03162276Phase 3
3Search Allelic Imbalance of Expression of BRCA Genes in Hereditary Risk of Breast and/or Ovarian CancerCompletedNCT01333748Phase 2
4Trial of Inquiry Based Stress Reduction (IBSR) Program for BRCA1/2 Mutation CarriersCompletedNCT01367639Phase 2
5PARP-inhibition and CTLA-4 Blockade in BRCA-deficient Ovarian CancerRecruitingNCT02571725Phase 1, Phase 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
8Cancer Genetics Hereditary Cancer Panel TestingCompletedNCT02324062
9Risk Education and Assessment for Cancer HeredityCompletedNCT01346761
10Lessons Learned From the Family Gene ToolkitCompletedNCT02154633
11Triple Negative Breast Cancer and Germline Hereditary Breast and Ovarian Cancer Mutation Carrier RegistryRecruitingNCT02302742
12Pancreatic Cancer GeneticsRecruitingNCT01102569
13C-PATROL - Non-interventional Study (NIS) to Collect Clinical and Patient Reported Outcome Data in an Olaparib Treated BRCAm+ PSR Ovarian Cancer PopulationRecruitingNCT02503436
14Clinical, Genetic, Behavioral, Laboratory and Epidemiologic Characterization of Individuals and Families at High Risk of Breast/Ovarian CancerActive, not recruitingNCT00040222
15Genetic Counseling for Breast Cancer Survivors (GC for BC)Active, not recruitingNCT02451735
16Culturally-Informed Counseling in Latinas at High Risk for Hereditary Breast or Ovarian CancerActive, not recruitingNCT01230346
17Family 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 227
2 Brca2 Hereditary Breast and Ovarian Cancer24 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:

36
Breast, Prostate, Skin

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 57)
id Gene Variation Type Significance SNP ID Assembly Location
1TP53NM_ 000546.5(TP53): c.742C> T (p.Arg248Trp)SNVPathogenic/ Likely pathogenicrs121912651GRCh37Chr 17, 7577539: 7577539
2TP53NM_ 000546.5(TP53): c.733G> T (p.Gly245Cys)SNVPathogenic/ Likely pathogenicrs28934575GRCh37Chr 17, 7577548: 7577548
3TP53NM_ 000546.5(TP53): c.725G> A (p.Cys242Tyr)SNVPathogenic/ Likely pathogenicrs121912655GRCh37Chr 17, 7577556: 7577556
4TP53NM_ 000546.5(TP53): c.734G> A (p.Gly245Asp)SNVPathogenic/ Likely pathogenicrs121912656GRCh37Chr 17, 7577547: 7577547
5TP53NM_ 000546.5(TP53): c.743G> A (p.Arg248Gln)SNVPathogenic/ Likely pathogenicrs11540652GRCh37Chr 17, 7577538: 7577538
6TP53NM_ 000546.5(TP53): c.722C> T (p.Ser241Phe)SNVPathogenic/ Likely pathogenicrs28934573GRCh37Chr 17, 7577559: 7577559
7TP53NM_ 000546.5(TP53): c.733G> A (p.Gly245Ser)SNVPathogenic/ Likely pathogenicrs28934575GRCh37Chr 17, 7577548: 7577548
8TP53NM_ 000546.5(TP53): c.818G> A (p.Arg273His)SNVPathogenic/ Likely pathogenicrs28934576GRCh37Chr 17, 7577120: 7577120
9TP53NM_ 000546.5(TP53): c.451C> A (p.Pro151Thr)SNVPathogenic/ Likely pathogenicrs28934874GRCh37Chr 17, 7578479: 7578479
10TP53NM_ 000546.5(TP53): c.451C> T (p.Pro151Ser)SNVPathogenic/ Likely pathogenicrs28934874GRCh37Chr 17, 7578479: 7578479
11HRASNM_ 005343.3(HRAS): c.34G> A (p.Gly12Ser)SNVPathogenic/ Likely pathogenicrs104894229GRCh37Chr 11, 534289: 534289
12HRASNM_ 005343.3(HRAS): c.35G> C (p.Gly12Ala)SNVPathogenic/ Likely pathogenicrs104894230GRCh37Chr 11, 534288: 534288
13HRASNM_ 005343.3(HRAS): c.37G> T (p.Gly13Cys)SNVPathogenic/ Likely pathogenicrs104894228GRCh37Chr 11, 534286: 534286
14HRASNM_ 005343.3(HRAS): c.35G> A (p.Gly12Asp)SNVPathogenic/ Likely pathogenicrs104894230GRCh37Chr 11, 534288: 534288
15HRASNM_ 005343.3(HRAS): c.34G> T (p.Gly12Cys)SNVPathogenic/ Likely pathogenicrs104894229GRCh37Chr 11, 534289: 534289
16TP53NM_ 000546.5(TP53): c.488A> G (p.Tyr163Cys)SNVPathogenic/ Likely pathogenicrs148924904GRCh37Chr 17, 7578442: 7578442
17TP53NM_ 000546.5(TP53): c.535C> T (p.His179Tyr)SNVPathogenic/ Likely pathogenicrs587780070GRCh37Chr 17, 7578395: 7578395
18TP53NM_ 000546.5(TP53): c.659A> G (p.Tyr220Cys)SNVPathogenic/ Likely pathogenicrs121912666GRCh37Chr 17, 7578190: 7578190
19TP53NM_ 000546.5(TP53): c.701A> G (p.Tyr234Cys)SNVPathogenic/ Likely pathogenicrs587780073GRCh37Chr 17, 7577580: 7577580
20TP53NM_ 000546.5(TP53): c.638G> A (p.Arg213Gln)SNVPathogenic/ Likely pathogenicrs587778720GRCh38Chr 17, 7674893: 7674893
21PIK3CANM_ 006218.3(PIK3CA): c.3140A> G (p.His1047Arg)SNVPathogenic/ Likely pathogenicrs121913279GRCh37Chr 3, 178952085: 178952085
22PIK3CANM_ 006218.3(PIK3CA): c.3140A> T (p.His1047Leu)SNVPathogenic/ Likely pathogenicrs121913279GRCh37Chr 3, 178952085: 178952085
23PIK3CANM_ 006218.3(PIK3CA): c.1633G> A (p.Glu545Lys)SNVPathogenic/ Likely pathogenicrs104886003GRCh37Chr 3, 178936091: 178936091
24PIK3CANM_ 006218.3(PIK3CA): c.1634A> G (p.Glu545Gly)SNVPathogenic/ Likely pathogenicrs121913274GRCh37Chr 3, 178936092: 178936092
25AKT1NM_ 005163.2(AKT1): c.49G> A (p.Glu17Lys)SNVPathogenic/ Likely pathogenicrs121434592GRCh37Chr 14, 105246551: 105246551
26TP53NM_ 000546.5(TP53): c.422G> A (p.Cys141Tyr)SNVPathogenic/ Likely pathogenicrs587781288GRCh37Chr 17, 7578508: 7578508
27TP53NM_ 000546.5(TP53): c.844C> G (p.Arg282Gly)SNVPathogenic/ Likely pathogenicrs28934574GRCh37Chr 17, 7577094: 7577094
28TP53NM_ 000546.5(TP53): c.842A> G (p.Asp281Gly)SNVPathogenic/ Likely pathogenicrs587781525GRCh37Chr 17, 7577096: 7577096
29IDH1NM_ 001282386.1(IDH1): c.395G> A (p.Arg132His)SNVPathogenic/ Likely pathogenicrs121913500GRCh38Chr 2, 208248388: 208248388
30PIK3CANM_ 006218.3(PIK3CA): c.1634A> C (p.Glu545Ala)SNV, HaplotypePathogenic/ Likely pathogenicrs121913274GRCh37Chr 3, 178936092: 178936092
31HRASNM_ 005343.3(HRAS): c.38G> T (p.Gly13Val)SNVPathogenic/ Likely pathogenicrs104894226GRCh38Chr 11, 534285: 534285
32TP53NM_ 000546.5(TP53): c.842A> T (p.Asp281Val)SNVPathogenic/ Likely pathogenicrs587781525GRCh38Chr 17, 7673778: 7673778
33TP53NM_ 000546.5(TP53): c.856G> A (p.Glu286Lys)SNVPathogenic/ Likely pathogenicrs786201059GRCh37Chr 17, 7577082: 7577082
34TP53NM_ 000546.5(TP53): c.824G> A (p.Cys275Tyr)SNVPathogenic/ Likely pathogenicrs863224451GRCh38Chr 17, 7673796: 7673796
35TP53NM_ 000546.5(TP53): c.584T> C (p.Ile195Thr)SNVPathogenic/ Likely pathogenicrs760043106GRCh38Chr 17, 7674947: 7674947
36PIK3CANM_ 006218.3(PIK3CA): c.1635G> T (p.Glu545Asp)SNVPathogenic/ Likely pathogenicrs121913275GRCh37Chr 3, 178936093: 178936093
37TP53NM_ 000546.5(TP53): c.833C> T (p.Pro278Leu)SNVPathogenic/ Likely pathogenicrs876659802GRCh37Chr 17, 7577105: 7577105
38SMAD4NM_ 005359.5(SMAD4): c.1081C> G (p.Arg361Gly)SNVPathogenic/ Likely pathogenicrs80338963GRCh37Chr 18, 48591918: 48591918
39SMAD4NM_ 005359.5(SMAD4): c.1082G> A (p.Arg361His)SNVPathogenic/ Likely pathogenicrs377767347GRCh37Chr 18, 48591919: 48591919
40PIK3CANM_ 006218.3(PIK3CA): c.1624G> A (p.Glu542Lys)SNVPathogenic/ Likely pathogenicrs121913273GRCh37Chr 3, 178936082: 178936082
41HRASNM_ 005343.3(HRAS): c.37G> C (p.Gly13Arg)SNVPathogenic/ Likely pathogenicrs104894228GRCh37Chr 11, 534286: 534286
42IDH1NM_ 005896.3(IDH1): c.395G> T (p.Arg132Leu)SNVPathogenic/ Likely pathogenicrs121913500GRCh37Chr 2, 209113112: 209113112
43IDH1NM_ 001282387.1(IDH1): c.394C> T (p.Arg132Cys)SNVPathogenic/ Likely pathogenicrs121913499GRCh37Chr 2, 209113113: 209113113
44IDH1NM_ 001282387.1(IDH1): c.394C> G (p.Arg132Gly)SNVPathogenic/ Likely pathogenicrs121913499GRCh37Chr 2, 209113113: 209113113
45IDH1NM_ 001282387.1(IDH1): c.394C> A (p.Arg132Ser)SNVPathogenic/ Likely pathogenicrs121913499GRCh37Chr 2, 209113113: 209113113
46PIK3CANM_ 006218.3(PIK3CA): c.1633G> C (p.Glu545Gln)SNVPathogenic/ Likely pathogenicrs104886003GRCh37Chr 3, 178936091: 178936091
47ERBB2NM_ 004448.3(ERBB2): c.2305G> C (p.Asp769His)SNVPathogenic/ Likely pathogenicrs121913468GRCh38Chr 17, 39724008: 39724008
48ERBB2NM_ 001005862.2(ERBB2): c.2215G> T (p.Asp739Tyr)SNVPathogenic/ Likely pathogenicrs121913468GRCh37Chr 17, 37880261: 37880261
49ERBB2NM_ 004448.3(ERBB2): c.2524G> A (p.Val842Ile)SNVPathogenic/ Likely pathogenicrs1057519738GRCh37Chr 17, 37881332: 37881332
50TP53NM_ 000546.5(TP53): c.713G> T (p.Cys238Phe)SNVPathogenic/ Likely pathogenicrs730882005GRCh37Chr 17, 7577568: 7577568
51TP53NM_ 000546.5(TP53): c.523C> G (p.Arg175Gly)SNVPathogenic/ Likely pathogenicrs138729528GRCh37Chr 17, 7578407: 7578407
52PIK3CANM_ 006218.3(PIK3CA): c.3139C> T (p.His1047Tyr)SNVPathogenic/ Likely pathogenicrs121913281GRCh37Chr 3, 178952084: 178952084
53BRAFNM_ 004333.4(BRAF): c.1391G> T (p.Gly464Val)SNVPathogenic/ Likely pathogenicrs121913348GRCh37Chr 7, 140481417: 140481417
54PTENNM_ 000314.6(PTEN): c.697C> T (p.Arg233Ter)SNVPathogenicrs121909219GRCh37Chr 10, 89717672: 89717672
55PTENNM_ 000314.6(PTEN): c.389G> A (p.Arg130Gln)SNVPathogenic/ Likely pathogenicrs121909229GRCh37Chr 10, 89692905: 89692905
56SMAD4NM_ 005359.5(SMAD4): c.1081C> T (p.Arg361Cys)SNVPathogenic/ Likely pathogenicrs80338963GRCh37Chr 18, 48591918: 48591918
57PTENNM_ 000314.6(PTEN): c.800delA (p.Lys267Argfs)deletionPathogenicrs121913289GRCh37Chr 10, 89717775: 89717775

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 37)
idSuper pathwaysScoreTop Affiliating Genes
19.7APC, PTEN
29.7APC, PTEN
39.5ATM, PTEN
49.3ATM, BRCA1
59.3ATM, BRCA1
69.3ATM, BRCA1
79.3BRCA2, CHEK2
89.1APC, ATM, PTEN
9
Show member pathways
9.0ATM, CHEK2
109.0ATM, CHEK2
11
Show member pathways
9.0ATM, CHEK2
129.0ATM, CHEK2
13
Show member pathways
9.0ATM, BRCA1, BRCA2
14
Show member pathways
8.7ATM, CHEK2, PTEN
15
Show member pathways
8.6APC, ATM, CHEK2
168.6APC, ATM, CHEK2
17
Show member pathways
8.6BRCA1, BRCA2, BRIP1, PALB2
188.6APC, ATM, BRCA1, PTEN
19
Show member pathways
8.5ATM, BRCA1, CHEK2
20
Show member pathways
8.5ATM, BRCA1, CHEK2
218.5ATM, BRCA1, CHEK2
22
Show member pathways
8.2APC, ATM, BRCA1, BRCA2, PTEN
238.2ATM, BRCA1, CHEK2, PTEN
248.2ATM, BRCA1, CHEK2, PTEN
25
Show member pathways
8.2ATM, BRCA1, CHEK2, PTEN
26
Show member pathways
8.2ATM, BRCA1, CHEK2, PTEN
27
Show member pathways
8.1ATM, BRCA1, BRCA2, CHEK2
28
Show member pathways
8.1ATM, BRCA1, BRCA2, CHEK2
29
Show member pathways
8.0ATM, BRCA1, BRIP1, CHEK2
30
Show member pathways
8.0ATM, BRCA1, BRCA2, BRIP1, PALB2
31
Show member pathways
8.0ATM, BRCA1, BRCA2, BRIP1, PALB2
327.8ATM, BRCA1, BRCA2, CHEK2, PTEN
33
Show member pathways
7.6ATM, BRCA1, BRIP1, CHEK2, PTEN
347.6ATM, BRCA1, BRCA2, BRIP1, CHEK2
35
Show member pathways
7.6ATM, BRCA1, BRCA2, BRIP1, CHEK2
36
Show member pathways
7.6ATM, BRCA1, BRCA2, BRIP1, CHEK2
37
Show member pathways
7.2ATM, BRCA1, BRCA2, BRIP1, 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
1lateral elementGO:000080010.4BRCA1, BRCA2
2chromosome, telomeric regionGO:00007819.9ATM, CHEK2
3nucleoplasmGO:00056547.2APC, ATM, BRCA1, BRCA2, BRIP1, CHEK2
4nucleusGO:00056346.4APC, ATM, BRCA1, BRCA2, BRIP1, CHEK2

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

(show all 29)
idNameGO IDScoreTop Affiliating Genes
1inner cell mass cell proliferationGO:000183310.4BRCA2, PALB2
2chordate embryonic developmentGO:004300910.3BRCA1, BRCA2
3female gonad developmentGO:000858510.2ATM, BRCA2
4mitotic spindle assembly checkpointGO:000709410.2APC, ATM
5DNA double-strand break processingGO:000072910.1ATM, BRCA1
6intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediatorGO:004277110.0BRCA2, CHEK2
7DNA damage checkpointGO:00000779.9BRIP1, CHEK2
8DNA recombinationGO:00063109.9BRCA1, BRCA2, PALB2
9protein deubiquitinationGO:00165799.9APC, BRCA1, PTEN
10response to ionizing radiationGO:00102129.8ATM, BRCA1
11response to gamma radiationGO:00103329.8BRCA2, CHEK2
12positive regulation of apoptotic processGO:00430659.8APC, ATM, PTEN
13cellular response to gamma radiationGO:00714809.8ATM, CHEK2
14DNA damage induced protein phosphorylationGO:00069759.8ATM, CHEK2
15somitogenesisGO:00017569.8ATM, PALB2
16replicative senescenceGO:00903999.6ATM, CHEK2
17DNA replicationGO:00062609.5ATM, BRCA1, BRIP1
18DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediatorGO:00069789.5BRCA1, BRCA2, CHEK2
19double-strand break repair via homologous recombinationGO:00007249.2ATM, BRCA1, BRCA2, PALB2
20regulation of apoptotic processGO:00429819.1ATM, BRCA1, CHEK2
21double-strand break repairGO:00063029.0BRCA1, BRCA2, BRIP1, CHEK2
22apoptotic processGO:00069158.9ATM, BRCA1, CHEK2, PTEN
23cell cycleGO:00070498.9ATM, BRCA1, BRCA2, CHEK2
24intrinsic apoptotic signaling pathway in response to DNA damageGO:00086308.8ATM, BRCA1, BRCA2, CHEK2
25DNA synthesis involved in DNA repairGO:00007318.7ATM, BRCA1, BRCA2, BRIP1, PALB2
26regulation of signal transduction by p53 class mediatorGO:19017968.6ATM, BRCA1, BRIP1, CHEK2
27strand displacementGO:00007328.0ATM, BRCA1, BRCA2, BRIP1, PALB2
28DNA repairGO:00062817.9ATM, BRCA1, BRCA2, BRIP1, CHEK2, PALB2
29cellular response to DNA damage stimulusGO:00069747.5APC, ATM, BRCA1, BRCA2, BRIP1, CHEK2

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

idNameGO IDScoreTop Affiliating Genes
1ubiquitin protein ligase bindingGO:00316258.7APC, BRCA1, CHEK2

Sources for Brca2 Hereditary Breast and Ovarian Cancer Syndrome

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
27GTR
28HGMD
29HMDB
30ICD10
31ICD10 via Orphanet
32ICD9CM
33IUPHAR
34KEGG
37MedGen
39MeSH
40MESH via Orphanet
41MGI
44NCI
45NCIt
46NDF-RT
49NINDS
50Novoseek
52OMIM
53OMIM via Orphanet
57PubMed
58QIAGEN
63SNOMED-CT via Orphanet
67Tumor Gene Family of Databases
68UMLS
69UMLS via Orphanet