BROVCA3
MCID: BRS088
MIFTS: 21

Breast-Ovarian Cancer, Familial 3 (BROVCA3)

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

Aliases & Classifications for Breast-Ovarian Cancer, Familial 3

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:



External Ids:

OMIM 58 613399
SNOMED-CT via HPO 70 254838004

Summaries for Breast-Ovarian Cancer, Familial 3

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

Related Diseases for Breast-Ovarian Cancer, Familial 3

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

Symptoms & Phenotypes for Breast-Ovarian Cancer, Familial 3

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

Drugs & Therapeutics for Breast-Ovarian Cancer, Familial 3

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

Genetic Tests for Breast-Ovarian Cancer, Familial 3

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

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

Anatomical Context for Breast-Ovarian Cancer, Familial 3

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

42
Breast, Ovary, Prostate

Publications for Breast-Ovarian Cancer, Familial 3

Variations for Breast-Ovarian Cancer, Familial 3

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 139)
# Gene Variation Type Significance SNP ID Assembly Location
1 RAD51C NM_058216.2(RAD51C): c.93delG (p.Phe32Serfs) deletion Pathogenic rs730881942 GRCh38 Chromosome 17, 58692736: 58692736
2 RAD51C NM_058216.2(RAD51C): c.93delG (p.Phe32Serfs) deletion Pathogenic rs730881942 GRCh37 Chromosome 17, 56770097: 56770097
3 RAD51C NM_058216.2(RAD51C): c.224dupA (p.Tyr75Terfs) duplication Pathogenic rs730881939 GRCh38 Chromosome 17, 58695009: 58695009
4 RAD51C NM_058216.2(RAD51C): c.224dupA (p.Tyr75Terfs) duplication Pathogenic rs730881939 GRCh37 Chromosome 17, 56772370: 56772370
5 RAD51C NM_058216.2(RAD51C): c.234A> G (p.Thr78=) single nucleotide variant Conflicting interpretations of pathogenicity rs730881929 GRCh38 Chromosome 17, 58695019: 58695019
6 RAD51C NM_058216.2(RAD51C): c.234A> G (p.Thr78=) single nucleotide variant Conflicting interpretations of pathogenicity rs730881929 GRCh37 Chromosome 17, 56772380: 56772380
7 RAD51C NM_058216.2(RAD51C): c.746G> A (p.Arg249His) single nucleotide variant Uncertain significance rs730881925 GRCh38 Chromosome 17, 58709899: 58709899
8 RAD51C NM_058216.2(RAD51C): c.746G> A (p.Arg249His) single nucleotide variant Uncertain significance rs730881925 GRCh37 Chromosome 17, 56787260: 56787260
9 RAD51C NM_058216.2(RAD51C): c.115C> G (p.Leu39Val) single nucleotide variant Uncertain significance rs759149207 GRCh37 Chromosome 17, 56770119: 56770119
10 RAD51C NM_058216.2(RAD51C): c.115C> G (p.Leu39Val) single nucleotide variant Uncertain significance rs759149207 GRCh38 Chromosome 17, 58692758: 58692758
11 RAD51C NM_058216.2(RAD51C): c.141C> T (p.Ser47=) single nucleotide variant Likely benign rs568912602 GRCh37 Chromosome 17, 56770145: 56770145
12 RAD51C NM_058216.2(RAD51C): c.141C> T (p.Ser47=) single nucleotide variant Likely benign rs568912602 GRCh38 Chromosome 17, 58692784: 58692784
13 RAD51C NM_058216.2(RAD51C): c.336G> A (p.Gly112=) single nucleotide variant Likely benign rs746122031 GRCh38 Chromosome 17, 58695121: 58695121
14 RAD51C NM_058216.2(RAD51C): c.336G> A (p.Gly112=) single nucleotide variant Likely benign rs746122031 GRCh37 Chromosome 17, 56772482: 56772482
15 RAD51C NM_058216.2(RAD51C): c.459T> G (p.Gly153=) single nucleotide variant Benign/Likely benign rs769486350 GRCh38 Chromosome 17, 58696747: 58696747
16 RAD51C NM_058216.2(RAD51C): c.459T> G (p.Gly153=) single nucleotide variant Benign/Likely benign rs769486350 GRCh37 Chromosome 17, 56774108: 56774108
17 RAD51C NM_058216.2(RAD51C): c.635G> A (p.Arg212His) single nucleotide variant Uncertain significance rs200857129 GRCh37 Chromosome 17, 56780620: 56780620
18 RAD51C NM_058216.2(RAD51C): c.635G> A (p.Arg212His) single nucleotide variant Uncertain significance rs200857129 GRCh38 Chromosome 17, 58703259: 58703259
19 RAD51C NM_058216.2(RAD51C): c.709C> T (p.Arg237Ter) single nucleotide variant Pathogenic rs770637624 GRCh37 Chromosome 17, 56787223: 56787223
20 RAD51C NM_058216.2(RAD51C): c.709C> T (p.Arg237Ter) single nucleotide variant Pathogenic rs770637624 GRCh38 Chromosome 17, 58709862: 58709862
21 RAD51C NM_058216.2(RAD51C): c.890T> C (p.Leu297Pro) single nucleotide variant Uncertain significance rs143026267 GRCh37 Chromosome 17, 56798159: 56798159
22 RAD51C NM_058216.2(RAD51C): c.890T> C (p.Leu297Pro) single nucleotide variant Uncertain significance rs143026267 GRCh38 Chromosome 17, 58720798: 58720798
23 RAD51C NM_058216.2(RAD51C): c.922G> T (p.Ala308Ser) single nucleotide variant Uncertain significance rs185057307 GRCh37 Chromosome 17, 56801418: 56801418
24 RAD51C NM_058216.2(RAD51C): c.922G> T (p.Ala308Ser) single nucleotide variant Uncertain significance rs185057307 GRCh38 Chromosome 17, 58724057: 58724057
25 RAD51C NM_058216.2(RAD51C): c.1109G> A (p.Arg370Gln) single nucleotide variant Uncertain significance rs373170458 GRCh37 Chromosome 17, 56811561: 56811561
26 RAD51C NM_058216.2(RAD51C): c.1109G> A (p.Arg370Gln) single nucleotide variant Uncertain significance rs373170458 GRCh38 Chromosome 17, 58734200: 58734200
27 RAD51C NM_058216.2(RAD51C): c.492T> G (p.Phe164Leu) single nucleotide variant Uncertain significance rs573992101 GRCh37 Chromosome 17, 56774141: 56774141
28 RAD51C NM_058216.2(RAD51C): c.492T> G (p.Phe164Leu) single nucleotide variant Uncertain significance rs573992101 GRCh38 Chromosome 17, 58696780: 58696780
29 RAD51C NM_058216.2(RAD51C): c.756A> G (p.Leu252=) single nucleotide variant Likely benign rs863224437 GRCh37 Chromosome 17, 56787270: 56787270
30 RAD51C NM_058216.2(RAD51C): c.756A> G (p.Leu252=) single nucleotide variant Likely benign rs863224437 GRCh38 Chromosome 17, 58709909: 58709909
31 RAD51C NM_058216.2(RAD51C): c.520A> G (p.Thr174Ala) single nucleotide variant Uncertain significance rs864622278 GRCh38 Chromosome 17, 58696808: 58696808
32 RAD51C NM_058216.2(RAD51C): c.520A> G (p.Thr174Ala) single nucleotide variant Uncertain significance rs864622278 GRCh37 Chromosome 17, 56774169: 56774169
33 RAD51C NM_058216.2(RAD51C): c.374G> T (p.Gly125Val) single nucleotide variant risk factor rs267606998 GRCh37 Chromosome 17, 56772520: 56772520
34 RAD51C NM_058216.2(RAD51C): c.374G> T (p.Gly125Val) single nucleotide variant risk factor rs267606998 GRCh38 Chromosome 17, 58695159: 58695159
35 RAD51C NM_058216.2(RAD51C): c.414G> C (p.Leu138Phe) single nucleotide variant Likely pathogenic rs267606999 GRCh37 Chromosome 17, 56774063: 56774063
36 RAD51C NM_058216.2(RAD51C): c.414G> C (p.Leu138Phe) single nucleotide variant Likely pathogenic rs267606999 GRCh38 Chromosome 17, 58696702: 58696702
37 RAD51C NM_058216.2(RAD51C): c.397C> T (p.Gln133Ter) single nucleotide variant Pathogenic rs387907159 GRCh37 Chromosome 17, 56772543: 56772543
38 RAD51C NM_058216.2(RAD51C): c.397C> T (p.Gln133Ter) single nucleotide variant Pathogenic rs387907159 GRCh38 Chromosome 17, 58695182: 58695182
39 RAD51C NM_058216.2(RAD51C): c.230delG (p.Gly77Valfs) deletion risk factor rs1057519355 GRCh37 Chromosome 17, 56772376: 56772376
40 RAD51C NM_058216.2(RAD51C): c.230delG (p.Gly77Valfs) deletion risk factor rs1057519355 GRCh38 Chromosome 17, 58695015: 58695015
41 RAD51C NM_058216.2(RAD51C): c.1026+5_1026+7delGTA deletion Pathogenic/Likely pathogenic rs587781410 GRCh37 Chromosome 17, 56809910: 56809912
42 RAD51C NM_058216.2(RAD51C): c.1026+5_1026+7delGTA deletion Pathogenic/Likely pathogenic rs587781410 GRCh38 Chromosome 17, 58732549: 58732551
43 RAD51C NM_058216.2(RAD51C): c.1102C> T (p.Arg368Trp) single nucleotide variant Uncertain significance rs587780253 GRCh37 Chromosome 17, 56811554: 56811554
44 RAD51C NM_058216.2(RAD51C): c.1102C> T (p.Arg368Trp) single nucleotide variant Uncertain significance rs587780253 GRCh38 Chromosome 17, 58734193: 58734193
45 RAD51C NM_058216.2(RAD51C): c.14C> T (p.Thr5Met) single nucleotide variant Uncertain significance rs201523760 GRCh37 Chromosome 17, 56770018: 56770018
46 RAD51C NM_058216.2(RAD51C): c.14C> T (p.Thr5Met) single nucleotide variant Uncertain significance rs201523760 GRCh38 Chromosome 17, 58692657: 58692657
47 RAD51C NM_058216.2(RAD51C): c.428A> G (p.Gln143Arg) single nucleotide variant Uncertain significance rs587780255 GRCh37 Chromosome 17, 56774077: 56774077
48 RAD51C NM_058216.2(RAD51C): c.428A> G (p.Gln143Arg) single nucleotide variant Uncertain significance rs587780255 GRCh38 Chromosome 17, 58696716: 58696716
49 RAD51C NM_058216.2(RAD51C): c.506T> C (p.Val169Ala) single nucleotide variant Conflicting interpretations of pathogenicity rs587780256 GRCh37 Chromosome 17, 56774155: 56774155
50 RAD51C NM_058216.2(RAD51C): c.506T> C (p.Val169Ala) single nucleotide variant Conflicting interpretations of pathogenicity rs587780256 GRCh38 Chromosome 17, 58696794: 58696794

Expression for Breast-Ovarian Cancer, Familial 3

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Pathways for Breast-Ovarian Cancer, Familial 3

GO Terms for Breast-Ovarian Cancer, Familial 3

Sources for Breast-Ovarian Cancer, Familial 3

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