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

Articles related to Breast-Ovarian Cancer, Familial 4:

# Title Authors Year
1
Germline mutations in RAD51D confer susceptibility to ovarian cancer. ( 21822267 )
2011

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 RAD51D, 1-BP DEL, 363A deletion risk factor
2 RAD51D RAD51D, TRP268TER single nucleotide variant risk factor
3 RAD51D NM_002878.3(RAD51D): c.556C> T (p.Arg186Ter) single nucleotide variant Pathogenic rs387906843 GRCh37 Chromosome 17, 33433425: 33433425
4 RAD51D NM_002878.3(RAD51D): c.556C> T (p.Arg186Ter) single nucleotide variant Pathogenic rs387906843 GRCh38 Chromosome 17, 35106406: 35106406
5 RAD51D RAD51D, NT480, G-A, +1 single nucleotide variant risk factor
6 RAD51D RAD51D, GLN115HIS single nucleotide variant risk factor
7 RAD51D NM_002878.3(RAD51D): c.757C> T (p.Arg253Ter) single nucleotide variant Pathogenic rs137886232 GRCh37 Chromosome 17, 33428366: 33428366
8 RAD51D NM_002878.3(RAD51D): c.757C> T (p.Arg253Ter) single nucleotide variant Pathogenic rs137886232 GRCh38 Chromosome 17, 35101347: 35101347
9 RAD51D NM_002878.3(RAD51D): c.137C> G (p.Ser46Cys) single nucleotide variant Uncertain significance rs587780102 GRCh37 Chromosome 17, 33446137: 33446137
10 RAD51D NM_002878.3(RAD51D): c.137C> G (p.Ser46Cys) single nucleotide variant Uncertain significance rs587780102 GRCh38 Chromosome 17, 35119118: 35119118
11 RAD51D NM_002878.3(RAD51D): c.146C> T (p.Ala49Val) single nucleotide variant Conflicting interpretations of pathogenicity rs140317560 GRCh37 Chromosome 17, 33445637: 33445637
12 RAD51D NM_002878.3(RAD51D): c.146C> T (p.Ala49Val) single nucleotide variant Conflicting interpretations of pathogenicity rs140317560 GRCh38 Chromosome 17, 35118618: 35118618
13 RAD51D NM_002878.3(RAD51D): c.1A> G (p.Met1Val) single nucleotide variant Pathogenic/Likely pathogenic rs561425038 GRCh37 Chromosome 17, 33446632: 33446632
14 RAD51D NM_002878.3(RAD51D): c.1A> G (p.Met1Val) single nucleotide variant Pathogenic/Likely pathogenic rs561425038 GRCh38 Chromosome 17, 35119613: 35119613
15 RAD51D NM_002878.3(RAD51D): c.208G> A (p.Asp70Asn) single nucleotide variant Uncertain significance rs142189122 GRCh37 Chromosome 17, 33445575: 33445575
16 RAD51D NM_002878.3(RAD51D): c.208G> A (p.Asp70Asn) single nucleotide variant Uncertain significance rs142189122 GRCh38 Chromosome 17, 35118556: 35118556
17 RAD51D NM_002878.3(RAD51D): c.26G> C (p.Cys9Ser) single nucleotide variant Conflicting interpretations of pathogenicity rs140825795 GRCh37 Chromosome 17, 33446607: 33446607
18 RAD51D NM_002878.3(RAD51D): c.26G> C (p.Cys9Ser) single nucleotide variant Conflicting interpretations of pathogenicity rs140825795 GRCh38 Chromosome 17, 35119588: 35119588
19 RAD51D NM_002878.3(RAD51D): c.412A> C (p.Asn138His) single nucleotide variant Uncertain significance rs141690729 GRCh37 Chromosome 17, 33434075: 33434075
20 RAD51D NM_002878.3(RAD51D): c.412A> C (p.Asn138His) single nucleotide variant Uncertain significance rs141690729 GRCh38 Chromosome 17, 35107056: 35107056
21 RAD51D NM_002878.3(RAD51D): c.413A> G (p.Asn138Ser) single nucleotide variant Conflicting interpretations of pathogenicity rs201676898 GRCh37 Chromosome 17, 33434074: 33434074
22 RAD51D NM_002878.3(RAD51D): c.413A> G (p.Asn138Ser) single nucleotide variant Conflicting interpretations of pathogenicity rs201676898 GRCh38 Chromosome 17, 35107055: 35107055
23 RAD51D NM_002878.3(RAD51D): c.493C> G (p.Arg165Gly) single nucleotide variant Uncertain significance rs544654228 GRCh37 Chromosome 17, 33433488: 33433488
24 RAD51D NM_002878.3(RAD51D): c.493C> G (p.Arg165Gly) single nucleotide variant Uncertain significance rs544654228 GRCh38 Chromosome 17, 35106469: 35106469
25 RAD51D NM_002878.3(RAD51D): c.493C> T (p.Arg165Trp) single nucleotide variant Uncertain significance rs544654228 GRCh37 Chromosome 17, 33433488: 33433488
26 RAD51D NM_002878.3(RAD51D): c.493C> T (p.Arg165Trp) single nucleotide variant Uncertain significance rs544654228 GRCh38 Chromosome 17, 35106469: 35106469
27 RAD51D NM_002878.3(RAD51D): c.568G> A (p.Ala190Thr) single nucleotide variant Conflicting interpretations of pathogenicity rs80116829 GRCh37 Chromosome 17, 33433413: 33433413
28 RAD51D NM_002878.3(RAD51D): c.568G> A (p.Ala190Thr) single nucleotide variant Conflicting interpretations of pathogenicity rs80116829 GRCh38 Chromosome 17, 35106394: 35106394
29 RAD51D NM_002878.3(RAD51D): c.694C> T (p.Arg232Ter) single nucleotide variant Pathogenic rs587780104 GRCh37 Chromosome 17, 33430317: 33430317
30 RAD51D NM_002878.3(RAD51D): c.694C> T (p.Arg232Ter) single nucleotide variant Pathogenic rs587780104 GRCh38 Chromosome 17, 35103298: 35103298
31 RAD51D NM_002878.3(RAD51D): c.748delC (p.His250Thrfs) deletion Pathogenic rs587780105 GRCh37 Chromosome 17, 33428375: 33428375
32 RAD51D NM_002878.3(RAD51D): c.748delC (p.His250Thrfs) deletion Pathogenic rs587780105 GRCh38 Chromosome 17, 35101356: 35101356
33 RAD51D NM_002878.3(RAD51D): c.919G> A (p.Glu307Lys) single nucleotide variant Conflicting interpretations of pathogenicity rs115031549 GRCh37 Chromosome 17, 33428040: 33428040
34 RAD51D NM_002878.3(RAD51D): c.919G> A (p.Glu307Lys) single nucleotide variant Conflicting interpretations of pathogenicity rs115031549 GRCh38 Chromosome 17, 35101021: 35101021
35 RAD51D NM_002878.3(RAD51D): c.932T> A (p.Ile311Asn) single nucleotide variant Conflicting interpretations of pathogenicity rs145309168 GRCh37 Chromosome 17, 33428027: 33428027
36 RAD51D NM_002878.3(RAD51D): c.932T> A (p.Ile311Asn) single nucleotide variant Conflicting interpretations of pathogenicity rs145309168 GRCh38 Chromosome 17, 35101008: 35101008
37 RAD51D NM_002878.3(RAD51D): c.932T> C (p.Ile311Thr) single nucleotide variant Uncertain significance rs145309168 GRCh37 Chromosome 17, 33428027: 33428027
38 RAD51D NM_002878.3(RAD51D): c.932T> C (p.Ile311Thr) single nucleotide variant Uncertain significance rs145309168 GRCh38 Chromosome 17, 35101008: 35101008
39 RAD51D NM_002878.3(RAD51D): c.973G> A (p.Gly325Ser) single nucleotide variant Uncertain significance rs587780106 GRCh37 Chromosome 17, 33427986: 33427986
40 RAD51D NM_002878.3(RAD51D): c.973G> A (p.Gly325Ser) single nucleotide variant Uncertain significance rs587780106 GRCh38 Chromosome 17, 35100967: 35100967
41 RAD51D NM_002878.3(RAD51D): c.481-7G> A single nucleotide variant Benign/Likely benign rs145832514 GRCh37 Chromosome 17, 33433507: 33433507
42 RAD51D NM_002878.3(RAD51D): c.481-7G> A single nucleotide variant Benign/Likely benign rs145832514 GRCh38 Chromosome 17, 35106488: 35106488
43 RAD51D NM_002878.3(RAD51D): c.695G> A (p.Arg232Gln) single nucleotide variant Benign/Likely benign rs28363283 GRCh37 Chromosome 17, 33430316: 33430316
44 RAD51D NM_002878.3(RAD51D): c.695G> A (p.Arg232Gln) single nucleotide variant Benign/Likely benign rs28363283 GRCh38 Chromosome 17, 35103297: 35103297
45 RAD51D NM_002878.3(RAD51D): c.698A> G (p.Glu233Gly) single nucleotide variant Benign/Likely benign rs28363284 GRCh37 Chromosome 17, 33430313: 33430313
46 RAD51D NM_002878.3(RAD51D): c.698A> G (p.Glu233Gly) single nucleotide variant Benign/Likely benign rs28363284 GRCh38 Chromosome 17, 35103294: 35103294
47 RAD51D NM_002878.3(RAD51D): c.216C> T (p.Tyr72=) single nucleotide variant Benign/Likely benign rs148690585 GRCh37 Chromosome 17, 33445567: 33445567
48 RAD51D NM_002878.3(RAD51D): c.216C> T (p.Tyr72=) single nucleotide variant Benign/Likely benign rs148690585 GRCh38 Chromosome 17, 35118548: 35118548
49 RAD51D NM_002878.3(RAD51D): c.771C> T (p.Ser257=) single nucleotide variant Benign/Likely benign rs146212490 GRCh37 Chromosome 17, 33428352: 33428352
50 RAD51D NM_002878.3(RAD51D): c.771C> T (p.Ser257=) single nucleotide variant Benign/Likely benign rs146212490 GRCh38 Chromosome 17, 35101333: 35101333

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
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75 UMLS via Orphanet
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