BROVCA4
MCID: BRS098
MIFTS: 19

Breast-Ovarian Cancer, Familial 4 (BROVCA4)

Categories: Cancer diseases, Genetic diseases, Rare diseases, Reproductive diseases

Aliases & Classifications for Breast-Ovarian Cancer, Familial 4

MalaCards integrated aliases for Breast-Ovarian Cancer, Familial 4:

Name: Breast-Ovarian Cancer, Familial 4 58 30 6
Breast-Ovarian Cancer, Familial, Susceptibility to, 4 58 13
Brovca4 58 76
Cancer, Breast-Ovarian, Familial, Susceptibility to, Type 4 41
Breast-Ovarian Cancer, Familial, 4 76
Ovarian Cancer Familial 4 76
Breast Cancer Familial 4 76

Classifications:



External Ids:

OMIM 58 614291

Summaries for Breast-Ovarian Cancer, Familial 4

UniProtKB/Swiss-Prot : 76 Breast-ovarian cancer, familial, 4: 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 4, is also known as breast-ovarian cancer, familial, susceptibility to, 4. An important gene associated with Breast-Ovarian Cancer, Familial 4 is RAD51D (RAD51 Paralog D). Affiliated tissues include breast, ovary and prostate.

Description from OMIM: 614291

Related Diseases for Breast-Ovarian Cancer, Familial 4

Symptoms & Phenotypes for Breast-Ovarian Cancer, Familial 4

Clinical features from OMIM:

614291

Drugs & Therapeutics for Breast-Ovarian Cancer, Familial 4

Search Clinical Trials , NIH Clinical Center for Breast-Ovarian Cancer, Familial 4

Genetic Tests for Breast-Ovarian Cancer, Familial 4

Genetic tests related to Breast-Ovarian Cancer, Familial 4:

# Genetic test Affiliating Genes
1 Breast-Ovarian Cancer, Familial 4 30 RAD51D

Anatomical Context for Breast-Ovarian Cancer, Familial 4

MalaCards organs/tissues related to Breast-Ovarian Cancer, Familial 4:

42
Breast, Ovary, Prostate

Publications for Breast-Ovarian Cancer, Familial 4

Variations for Breast-Ovarian Cancer, Familial 4

ClinVar genetic disease variations for Breast-Ovarian Cancer, Familial 4:

6 (show top 50) (show all 715)
# Gene Variation Type Significance SNP ID Assembly Location
1 RAD51D NM_002878.3(RAD51D): c.904-11T> A single nucleotide variant Likely benign rs374449943 GRCh38 Chromosome 17, 35101047: 35101047
2 RAD51D NM_002878.3(RAD51D): c.904-11T> A single nucleotide variant Likely benign rs374449943 GRCh37 Chromosome 17, 33428066: 33428066
3 RAD51D NM_002878.3(RAD51D): c.872G> A (p.Arg291His) single nucleotide variant Uncertain significance rs150134822 GRCh38 Chromosome 17, 35101232: 35101232
4 RAD51D NM_002878.3(RAD51D): c.872G> A (p.Arg291His) single nucleotide variant Uncertain significance rs150134822 GRCh37 Chromosome 17, 33428251: 33428251
5 RAD51D NM_002878.3(RAD51D): c.864C> T (p.Gly288=) single nucleotide variant Conflicting interpretations of pathogenicity rs138557828 GRCh38 Chromosome 17, 35101240: 35101240
6 RAD51D NM_002878.3(RAD51D): c.864C> T (p.Gly288=) single nucleotide variant Conflicting interpretations of pathogenicity rs138557828 GRCh37 Chromosome 17, 33428259: 33428259
7 RAD51D NM_002878.3(RAD51D): c.785C> T (p.Pro262Leu) single nucleotide variant Uncertain significance rs730881950 GRCh38 Chromosome 17, 35101319: 35101319
8 RAD51D NM_002878.3(RAD51D): c.785C> T (p.Pro262Leu) single nucleotide variant Uncertain significance rs730881950 GRCh37 Chromosome 17, 33428338: 33428338
9 RAD51D NM_002878.3(RAD51D): c.745A> G (p.Asn249Asp) single nucleotide variant Uncertain significance rs730881949 GRCh38 Chromosome 17, 35101359: 35101359
10 RAD51D NM_002878.3(RAD51D): c.745A> G (p.Asn249Asp) single nucleotide variant Uncertain significance rs730881949 GRCh37 Chromosome 17, 33428378: 33428378
11 RAD51D NM_002878.3(RAD51D): c.666A> G (p.Glu222=) single nucleotide variant Benign/Likely benign rs114012742 GRCh38 Chromosome 17, 35103455: 35103455
12 RAD51D NM_002878.3(RAD51D): c.666A> G (p.Glu222=) single nucleotide variant Benign/Likely benign rs114012742 GRCh37 Chromosome 17, 33430474: 33430474
13 RAD51D NM_002878.3(RAD51D): c.609_611delGGT (p.Val205del) deletion Uncertain significance rs730881944 GRCh38 Chromosome 17, 35103510: 35103512
14 RAD51D NM_002878.3(RAD51D): c.609_611delGGT (p.Val205del) deletion Uncertain significance rs730881944 GRCh37 Chromosome 17, 33430529: 33430531
15 RAD51D NM_002878.3(RAD51D): c.607G> A (p.Val203Met) single nucleotide variant Uncertain significance rs730881947 GRCh38 Chromosome 17, 35103514: 35103514
16 RAD51D NM_002878.3(RAD51D): c.607G> A (p.Val203Met) single nucleotide variant Uncertain significance rs730881947 GRCh37 Chromosome 17, 33430533: 33430533
17 RAD51D NM_002878.3(RAD51D): c.481-5T> G single nucleotide variant Conflicting interpretations of pathogenicity rs374382703 GRCh38 Chromosome 17, 35106486: 35106486
18 RAD51D NM_002878.3(RAD51D): c.481-5T> G single nucleotide variant Conflicting interpretations of pathogenicity rs374382703 GRCh37 Chromosome 17, 33433505: 33433505
19 RAD51D NM_002878.3(RAD51D): c.419G> A (p.Gly140Glu) single nucleotide variant Uncertain significance rs730881945 GRCh38 Chromosome 17, 35107049: 35107049
20 RAD51D NM_002878.3(RAD51D): c.419G> A (p.Gly140Glu) single nucleotide variant Uncertain significance rs730881945 GRCh37 Chromosome 17, 33434068: 33434068
21 RAD51D NM_002878.3(RAD51D): c.412A> G (p.Asn138Asp) single nucleotide variant Uncertain significance rs141690729 GRCh38 Chromosome 17, 35107056: 35107056
22 RAD51D NM_002878.3(RAD51D): c.412A> G (p.Asn138Asp) single nucleotide variant Uncertain significance rs141690729 GRCh37 Chromosome 17, 33434075: 33434075
23 RAD51D NM_002878.3(RAD51D): c.363delA (p.Ala122Glnfs) deletion Pathogenic/Likely pathogenic rs730881935 GRCh38 Chromosome 17, 35107105: 35107105
24 RAD51D NM_002878.3(RAD51D): c.363delA (p.Ala122Glnfs) deletion Pathogenic/Likely pathogenic rs730881935 GRCh37 Chromosome 17, 33434124: 33434124
25 RAD51D NM_002878.3(RAD51D): c.355T> C (p.Cys119Arg) single nucleotide variant Uncertain significance rs201313861 GRCh38 Chromosome 17, 35107113: 35107113
26 RAD51D NM_002878.3(RAD51D): c.355T> C (p.Cys119Arg) single nucleotide variant Uncertain significance rs201313861 GRCh37 Chromosome 17, 33434132: 33434132
27 RAD51D NM_002878.3(RAD51D): c.292T> A (p.Tyr98Asn) single nucleotide variant Uncertain significance rs730881946 GRCh38 Chromosome 17, 35107419: 35107419
28 RAD51D NM_002878.3(RAD51D): c.292T> A (p.Tyr98Asn) single nucleotide variant Uncertain significance rs730881946 GRCh37 Chromosome 17, 33434438: 33434438
29 RAD51D NM_002878.3(RAD51D): c.4G> A (p.Gly2Ser) single nucleotide variant Uncertain significance rs372082751 GRCh38 Chromosome 17, 35119610: 35119610
30 RAD51D NM_002878.3(RAD51D): c.4G> A (p.Gly2Ser) single nucleotide variant Uncertain significance rs372082751 GRCh37 Chromosome 17, 33446629: 33446629
31 RAD51D NM_002878.3(RAD51D): c.326dupC (p.Gly110Argfs) duplication Pathogenic rs730882119 GRCh37 Chromosome 17, 33434404: 33434404
32 RAD51D NM_002878.3(RAD51D): c.326dupC (p.Gly110Argfs) duplication Pathogenic rs730882119 GRCh38 Chromosome 17, 35107385: 35107385
33 RAD51D NM_002878.3(RAD51D): c.972G> T (p.Gln324His) single nucleotide variant Uncertain significance rs762625437 GRCh37 Chromosome 17, 33427987: 33427987
34 RAD51D NM_002878.3(RAD51D): c.972G> T (p.Gln324His) single nucleotide variant Uncertain significance rs762625437 GRCh38 Chromosome 17, 35100968: 35100968
35 RAD51D NM_002878.3(RAD51D): c.966A> G (p.Thr322=) single nucleotide variant Conflicting interpretations of pathogenicity rs786203299 GRCh37 Chromosome 17, 33427993: 33427993
36 RAD51D NM_002878.3(RAD51D): c.966A> G (p.Thr322=) single nucleotide variant Conflicting interpretations of pathogenicity rs786203299 GRCh38 Chromosome 17, 35100974: 35100974
37 RAD51D NM_002878.3(RAD51D): c.957G> A (p.Gln319=) single nucleotide variant Likely benign rs147669627 GRCh38 Chromosome 17, 35100983: 35100983
38 RAD51D NM_002878.3(RAD51D): c.957G> A (p.Gln319=) single nucleotide variant Likely benign rs147669627 GRCh37 Chromosome 17, 33428002: 33428002
39 RAD51D NM_002878.3(RAD51D): c.922A> G (p.Met308Val) single nucleotide variant Conflicting interpretations of pathogenicity rs786201961 GRCh37 Chromosome 17, 33428037: 33428037
40 RAD51D NM_002878.3(RAD51D): c.922A> G (p.Met308Val) single nucleotide variant Conflicting interpretations of pathogenicity rs786201961 GRCh38 Chromosome 17, 35101018: 35101018
41 RAD51D NM_002878.3(RAD51D): c.900A> G (p.Arg300=) single nucleotide variant Likely benign rs370634278 GRCh37 Chromosome 17, 33428223: 33428223
42 RAD51D NM_002878.3(RAD51D): c.900A> G (p.Arg300=) single nucleotide variant Likely benign rs370634278 GRCh38 Chromosome 17, 35101204: 35101204
43 RAD51D NM_002878.3(RAD51D): c.898C> T (p.Arg300Ter) single nucleotide variant Likely pathogenic rs750621215 GRCh37 Chromosome 17, 33428225: 33428225
44 RAD51D NM_002878.3(RAD51D): c.898C> T (p.Arg300Ter) single nucleotide variant Likely pathogenic rs750621215 GRCh38 Chromosome 17, 35101206: 35101206
45 RAD51D NM_002878.3(RAD51D): c.898delC (p.Arg300Aspfs) deletion Likely pathogenic rs786202251 GRCh37 Chromosome 17, 33428225: 33428225
46 RAD51D NM_002878.3(RAD51D): c.898delC (p.Arg300Aspfs) deletion Likely pathogenic rs786202251 GRCh38 Chromosome 17, 35101206: 35101206
47 RAD51D NM_002878.3(RAD51D): c.879G> A (p.Ala293=) single nucleotide variant Likely benign rs368209468 GRCh37 Chromosome 17, 33428244: 33428244
48 RAD51D NM_002878.3(RAD51D): c.879G> A (p.Ala293=) single nucleotide variant Likely benign rs368209468 GRCh38 Chromosome 17, 35101225: 35101225
49 RAD51D NM_002878.3(RAD51D): c.878C> T (p.Ala293Val) single nucleotide variant Conflicting interpretations of pathogenicity rs769732230 GRCh37 Chromosome 17, 33428245: 33428245
50 RAD51D NM_002878.3(RAD51D): c.878C> T (p.Ala293Val) single nucleotide variant Conflicting interpretations of pathogenicity rs769732230 GRCh38 Chromosome 17, 35101226: 35101226

Expression for Breast-Ovarian Cancer, Familial 4

Search GEO for disease gene expression data for Breast-Ovarian Cancer, Familial 4.

Pathways for Breast-Ovarian Cancer, Familial 4

GO Terms for Breast-Ovarian Cancer, Familial 4

Biological processes related to Breast-Ovarian Cancer, Familial 4 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 DNA repair GO:0006281 8.32 RAD51D

Molecular functions related to Breast-Ovarian Cancer, Familial 4 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 DNA-dependent ATPase activity GO:0008094 8.32 RAD51D

Sources for Breast-Ovarian Cancer, Familial 4

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63 PubMed
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70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
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75 UMLS via Orphanet
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