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BROVCA3
MCID: BRS088
MIFTS: 22

Breast-Ovarian Cancer, Familial 3 (BROVCA3)

Categories: Cancer diseases, Genetic diseases, Rare diseases, Reproductive diseases
Genes Variations Tissues Related diseases Publications Symptoms & Phenotypes
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Aliases & Classifications for Breast-Ovarian Cancer, Familial 3

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MalaCards integrated aliases for Breast-Ovarian Cancer, Familial 3:

Name: Breast-Ovarian Cancer, Familial 3 58 30 6
Breast-Ovarian Cancer, Familial, Susceptibility to, 3 58 13
Brovca3 58 76
Cancer, Breast-Ovarian, Familial, Susceptibility to, Type 3 41
Breast-Ovarian Cancer, Familial, 3 76
Ovarian Cancer Familial 3 76
Breast Cancer Familial 3 76

Classifications:

MalaCards categories:
Global: Genetic diseases Rare diseases Cancer diseases
Anatomical: Reproductive diseases
See all MalaCards categories (disease lists)


External Ids:

OMIM 58 613399
SNOMED-CT via HPO 70 254838004
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Summaries for Breast-Ovarian Cancer, Familial 3

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UniProtKB/Swiss-Prot : 76 Breast-ovarian cancer, familial, 3: A condition associated with familial predisposition to cancer of the breast and ovaries. Characteristic features in affected families are an early age of onset of breast cancer (often before age 50), increased chance of bilateral cancers (cancer that develop in both breasts, or both ovaries, independently), frequent occurrence of breast cancer among men, increased incidence of tumors of other specific organs, such as the prostate.

MalaCards based summary : Breast-Ovarian Cancer, Familial 3, also known as breast-ovarian cancer, familial, susceptibility to, 3, is related to fanconi anemia, complementation group o. An important gene associated with Breast-Ovarian Cancer, Familial 3 is RAD51C (RAD51 Paralog C). Affiliated tissues include breast, ovary and prostate, and related phenotypes are breast carcinoma and ovarian carcinoma

Description from OMIM: 613399
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Related Diseases for Breast-Ovarian Cancer, Familial 3

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Diseases in the Hereditary Breast Ovarian Cancer Syndrome family:

Breast-Ovarian Cancer, Familial 1 Breast-Ovarian Cancer, Familial 2
Breast-Ovarian Cancer, Familial 3 Breast-Ovarian Cancer, Familial 4

Diseases related to Breast-Ovarian Cancer, Familial 3 via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 fanconi anemia, complementation group o 9.4 RAD51C TEX14

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Symptoms & Phenotypes for Breast-Ovarian Cancer, Familial 3

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Human phenotypes related to Breast-Ovarian Cancer, Familial 3:

33
# Description HPO Frequency HPO Source Accession
1 breast carcinoma 33 HP:0003002
2 ovarian carcinoma 33 HP:0025318

Clinical features from OMIM:

613399

GenomeRNAi Phenotypes related to Breast-Ovarian Cancer, Familial 3 according to GeneCards Suite gene sharing:

27
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased cell death HMECs cells GR00103-A-0 8.62 RAD51C TEX14
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Drugs & Therapeutics for Breast-Ovarian Cancer, Familial 3

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Search Clinical Trials , NIH Clinical Center for Breast-Ovarian Cancer, Familial 3

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Genetic Tests for Breast-Ovarian Cancer, Familial 3

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Genetic tests related to Breast-Ovarian Cancer, Familial 3:

# Genetic test Affiliating Genes
1 Breast-Ovarian Cancer, Familial 3 30 RAD51C
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Anatomical Context for Breast-Ovarian Cancer, Familial 3

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MalaCards organs/tissues related to Breast-Ovarian Cancer, Familial 3:

42
Breast, Ovary, Prostate
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Publications for Breast-Ovarian Cancer, Familial 3

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Articles related to Breast-Ovarian Cancer, Familial 3:

# Title Authors Year
1
Analysis of RAD51C germline mutations in high-risk breast and ovarian cancer families and ovarian cancer patients. ( 21990120 )
2012
2
Germline RAD51C mutations confer susceptibility to ovarian cancer. ( 22538716 )
2012
3
RAD51C is a susceptibility gene for ovarian cancer. ( 21616938 )
2011
4
Germline mutations in breast and ovarian cancer pedigrees establish RAD51C as a human cancer susceptibility gene. ( 20400964 )
2010
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Variations for Breast-Ovarian Cancer, Familial 3

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UniProtKB/Swiss-Prot genetic disease variations for Breast-Ovarian Cancer, Familial 3:

76
# Symbol AA change Variation ID SNP ID
1 RAD51C p.Thr287Ala VAR_020520 rs28363317
2 RAD51C p.Gly125Val VAR_063838 rs267606998
3 RAD51C p.Leu138Phe VAR_063840 rs267606999
4 RAD51C p.Gly162Glu VAR_068017 rs35151472
5 RAD51C p.Gln178Pro VAR_068019

ClinVar genetic disease variations for Breast-Ovarian Cancer, Familial 3:

6 (show top 50) (show all 147)
# Gene Variation Type Significance SNP ID Assembly Location
1 RAD51C NM_058216.2(RAD51C): c.374G> T (p.Gly125Val) single nucleotide variant risk factor rs267606998 GRCh37 Chromosome 17, 56772520: 56772520
2 RAD51C NM_058216.2(RAD51C): c.374G> T (p.Gly125Val) single nucleotide variant risk factor rs267606998 GRCh38 Chromosome 17, 58695159: 58695159
3 RAD51C NM_058216.2(RAD51C): c.414G> C (p.Leu138Phe) single nucleotide variant Likely pathogenic rs267606999 GRCh37 Chromosome 17, 56774063: 56774063
4 RAD51C NM_058216.2(RAD51C): c.414G> C (p.Leu138Phe) single nucleotide variant Likely pathogenic rs267606999 GRCh38 Chromosome 17, 58696702: 58696702
5 RAD51C NM_058216.2(RAD51C): c.397C> T (p.Gln133Ter) single nucleotide variant Pathogenic rs387907159 GRCh37 Chromosome 17, 56772543: 56772543
6 RAD51C NM_058216.2(RAD51C): c.397C> T (p.Gln133Ter) single nucleotide variant Pathogenic rs387907159 GRCh38 Chromosome 17, 58695182: 58695182
7 RAD51C NM_058216.2(RAD51C): c.230del (p.Gly77Valfs) deletion risk factor rs1057519355 GRCh37 Chromosome 17, 56772376: 56772376
8 RAD51C NM_058216.2(RAD51C): c.230del (p.Gly77Valfs) deletion risk factor rs1057519355 GRCh38 Chromosome 17, 58695015: 58695015
9 RAD51C NM_058216.2(RAD51C): c.1026+5_1026+7delGTA deletion Pathogenic/Likely pathogenic rs587781410 GRCh37 Chromosome 17, 56809910: 56809912
10 RAD51C NM_058216.2(RAD51C): c.1026+5_1026+7delGTA deletion Pathogenic/Likely pathogenic rs587781410 GRCh38 Chromosome 17, 58732549: 58732551
11 RAD51C NM_058216.2(RAD51C): c.1102C> T (p.Arg368Trp) single nucleotide variant Uncertain significance rs587780253 GRCh37 Chromosome 17, 56811554: 56811554
12 RAD51C NM_058216.2(RAD51C): c.1102C> T (p.Arg368Trp) single nucleotide variant Uncertain significance rs587780253 GRCh38 Chromosome 17, 58734193: 58734193
13 RAD51C NM_058216.2(RAD51C): c.14C> T (p.Thr5Met) single nucleotide variant Uncertain significance rs201523760 GRCh37 Chromosome 17, 56770018: 56770018
14 RAD51C NM_058216.2(RAD51C): c.14C> T (p.Thr5Met) single nucleotide variant Uncertain significance rs201523760 GRCh38 Chromosome 17, 58692657: 58692657
15 RAD51C NM_058216.2(RAD51C): c.428A> G (p.Gln143Arg) single nucleotide variant Uncertain significance rs587780255 GRCh37 Chromosome 17, 56774077: 56774077
16 RAD51C NM_058216.2(RAD51C): c.428A> G (p.Gln143Arg) single nucleotide variant Uncertain significance rs587780255 GRCh38 Chromosome 17, 58696716: 58696716
17 RAD51C NM_058216.2(RAD51C): c.506T> C (p.Val169Ala) single nucleotide variant Conflicting interpretations of pathogenicity rs587780256 GRCh37 Chromosome 17, 56774155: 56774155
18 RAD51C NM_058216.2(RAD51C): c.506T> C (p.Val169Ala) single nucleotide variant Conflicting interpretations of pathogenicity rs587780256 GRCh38 Chromosome 17, 58696794: 58696794
19 RAD51C NM_058216.2(RAD51C): c.571+4A> G single nucleotide variant Conflicting interpretations of pathogenicity rs587780257 GRCh37 Chromosome 17, 56774224: 56774224
20 RAD51C NM_058216.2(RAD51C): c.571+4A> G single nucleotide variant Conflicting interpretations of pathogenicity rs587780257 GRCh38 Chromosome 17, 58696863: 58696863
21 RAD51C NM_058216.2(RAD51C): c.706-2A> G single nucleotide variant Pathogenic/Likely pathogenic rs587780259 GRCh37 Chromosome 17, 56787218: 56787218
22 RAD51C NM_058216.2(RAD51C): c.706-2A> G single nucleotide variant Pathogenic/Likely pathogenic rs587780259 GRCh38 Chromosome 17, 58709857: 58709857
23 RAD51C NM_058216.2(RAD51C): c.784T> G (p.Leu262Val) single nucleotide variant Uncertain significance rs149331537 GRCh37 Chromosome 17, 56787298: 56787298
24 RAD51C NM_058216.2(RAD51C): c.784T> G (p.Leu262Val) single nucleotide variant Uncertain significance rs149331537 GRCh38 Chromosome 17, 58709937: 58709937
25 RAD51C NM_058216.2(RAD51C): c.790G> A (p.Gly264Ser) single nucleotide variant Conflicting interpretations of pathogenicity rs147241704 GRCh37 Chromosome 17, 56787304: 56787304
26 RAD51C NM_058216.2(RAD51C): c.790G> A (p.Gly264Ser) single nucleotide variant Conflicting interpretations of pathogenicity rs147241704 GRCh38 Chromosome 17, 58709943: 58709943
27 RAD51C NM_058216.2(RAD51C): c.859A> G (p.Thr287Ala) single nucleotide variant Benign/Likely benign rs28363317 GRCh37 Chromosome 17, 56798128: 56798128
28 RAD51C NM_058216.2(RAD51C): c.859A> G (p.Thr287Ala) single nucleotide variant Benign/Likely benign rs28363317 GRCh38 Chromosome 17, 58720767: 58720767
29 RAD51C NM_058216.2(RAD51C): c.376G> A (p.Ala126Thr) single nucleotide variant Benign/Likely benign rs61758784 GRCh37 Chromosome 17, 56772522: 56772522
30 RAD51C NM_058216.2(RAD51C): c.376G> A (p.Ala126Thr) single nucleotide variant Benign/Likely benign rs61758784 GRCh38 Chromosome 17, 58695161: 58695161
31 RAD51C NM_058216.2(RAD51C): c.146-8A> G single nucleotide variant Conflicting interpretations of pathogenicity rs201079501 GRCh37 Chromosome 17, 56772284: 56772284
32 RAD51C NM_058216.2(RAD51C): c.146-8A> G single nucleotide variant Conflicting interpretations of pathogenicity rs201079501 GRCh38 Chromosome 17, 58694923: 58694923
33 RAD51C NM_058216.2(RAD51C): c.195A> G (p.Arg65=) single nucleotide variant Benign/Likely benign rs45511291 GRCh37 Chromosome 17, 56772341: 56772341
34 RAD51C NM_058216.2(RAD51C): c.195A> G (p.Arg65=) single nucleotide variant Benign/Likely benign rs45511291 GRCh38 Chromosome 17, 58694980: 58694980
35 RAD51C NM_058216.2(RAD51C): c.186A> G (p.Gln62=) single nucleotide variant Benign/Likely benign rs28363303 GRCh37 Chromosome 17, 56772332: 56772332
36 RAD51C NM_058216.2(RAD51C): c.186A> G (p.Gln62=) single nucleotide variant Benign/Likely benign rs28363303 GRCh38 Chromosome 17, 58694971: 58694971
37 RAD51C NM_058216.2(RAD51C): c.145+12T> G single nucleotide variant Benign/Likely benign rs377297129 GRCh37 Chromosome 17, 56770161: 56770161
38 RAD51C NM_058216.2(RAD51C): c.145+12T> G single nucleotide variant Benign/Likely benign rs377297129 GRCh38 Chromosome 17, 58692800: 58692800
39 RAD51C NM_058216.2(RAD51C): c.955C> T (p.Arg319Ter) single nucleotide variant Pathogenic rs587781287 GRCh37 Chromosome 17, 56801451: 56801451
40 RAD51C NM_058216.2(RAD51C): c.955C> T (p.Arg319Ter) single nucleotide variant Pathogenic rs587781287 GRCh38 Chromosome 17, 58724090: 58724090
41 RAD51C NM_058216.2(RAD51C): c.577C> T (p.Arg193Ter) single nucleotide variant Pathogenic rs200293302 GRCh37 Chromosome 17, 56780562: 56780562
42 RAD51C NM_058216.2(RAD51C): c.577C> T (p.Arg193Ter) single nucleotide variant Pathogenic rs200293302 GRCh38 Chromosome 17, 58703201: 58703201
43 RAD51C NM_058216.2(RAD51C): c.90G> A (p.Ala30=) single nucleotide variant Benign/Likely benign rs115414895 GRCh37 Chromosome 17, 56770094: 56770094
44 RAD51C NM_058216.2(RAD51C): c.90G> A (p.Ala30=) single nucleotide variant Benign/Likely benign rs115414895 GRCh38 Chromosome 17, 58692733: 58692733
45 RAD51C NM_058216.2(RAD51C): c.134A> G (p.Glu45Gly) single nucleotide variant Conflicting interpretations of pathogenicity rs587781383 GRCh37 Chromosome 17, 56770138: 56770138
46 RAD51C NM_058216.2(RAD51C): c.134A> G (p.Glu45Gly) single nucleotide variant Conflicting interpretations of pathogenicity rs587781383 GRCh38 Chromosome 17, 58692777: 58692777
47 RAD51C NM_058216.2(RAD51C): c.862A> G (p.Thr288Ala) single nucleotide variant Uncertain significance rs587781574 GRCh37 Chromosome 17, 56798131: 56798131
48 RAD51C NM_058216.2(RAD51C): c.862A> G (p.Thr288Ala) single nucleotide variant Uncertain significance rs587781574 GRCh38 Chromosome 17, 58720770: 58720770
49 RAD51C NM_058216.2(RAD51C): c.640C> T (p.Arg214Cys) single nucleotide variant Conflicting interpretations of pathogenicity rs140804406 GRCh37 Chromosome 17, 56780625: 56780625
50 RAD51C NM_058216.2(RAD51C): c.640C> T (p.Arg214Cys) single nucleotide variant Conflicting interpretations of pathogenicity rs140804406 GRCh38 Chromosome 17, 58703264: 58703264
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Expression for Breast-Ovarian Cancer, Familial 3

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Search GEO for disease gene expression data for Breast-Ovarian Cancer, Familial 3.
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Pathways for Breast-Ovarian Cancer, Familial 3

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GO Terms for Breast-Ovarian Cancer, Familial 3

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Sources for Breast-Ovarian Cancer, Familial 3

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3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
The MalaCards human disease database index: 1-9 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z
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