Breast-Ovarian Cancer, Familial 3 disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

BROVCA3 MCID: BRS088 MIFTS: 24	Breast-Ovarian Cancer, Familial 3 (BROVCA3) Categories: Cancer diseases, Genetic diseases, Rare diseases, Reproductive diseases
Genes Variations Tissues Publications Symptoms & Phenotypes Expand all tables

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Aliases & Classifications for Breast-Ovarian Cancer, Familial 3

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

Name: Breast-Ovarian Cancer, Familial 3 ⁵⁷ ²⁹ ⁶

Breast-Ovarian Cancer, Familial, Susceptibility to, 3 ⁵⁷ ¹³

Brovca3 ⁵⁷ ⁷²

Cancer, Breast-Ovarian, Familial, Susceptibility to, Type 3 ³⁹

Breast-Ovarian Cancer, Familial, 3 ⁷²

Ovarian Cancer Familial 3 ⁷²

Breast Cancer Familial 3 ⁷²

Classifications:

MalaCards categories:
Global: Genetic diseases Rare diseases Cancer diseases
Anatomical: Reproductive diseases

See all MalaCards categories (disease lists)

External Ids:

OMIM® ⁵⁷ 613399

OMIM Phenotypic Series ⁵⁷ PS604370

MeSH ⁴⁴ D001943 D010051

MedGen ⁴¹ C3150659 C3150660 C3150661

SNOMED-CT via HPO ⁶⁸ 254838004

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Summaries for Breast-Ovarian Cancer, Familial 3

UniProtKB/Swiss-Prot : ⁷² 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, is also known as breast-ovarian cancer, familial, susceptibility to, 3. An important gene associated with Breast-Ovarian Cancer, Familial 3 is RAD51C (RAD51 Paralog C). Affiliated tissues include breast and prostate, and related phenotypes are breast carcinoma and ovarian carcinoma

More information from OMIM: 613399 PS604370

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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

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Symptoms & Phenotypes for Breast-Ovarian Cancer, Familial 3

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

³¹

#	Description	HPO Frequency	HPO Source Accession
1	breast carcinoma ³¹		HP:0003002
2	ovarian carcinoma ³¹		HP:0025318

Clinical features from OMIM®:

613399 (Updated 20-May-2021)

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Drugs & Therapeutics for Breast-Ovarian Cancer, Familial 3

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

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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 ²⁹	RAD51C

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Anatomical Context for Breast-Ovarian Cancer, Familial 3

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

⁴⁰

Breast, Prostate

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Publications for Breast-Ovarian Cancer, Familial 3

Articles related to Breast-Ovarian Cancer, Familial 3:

(show all 20)

#	Title	Authors	PMID	Year
1	Germline RAD51C mutations confer susceptibility to ovarian cancer. ⁶ ⁵⁷	Loveday C...Rahman N	22538716	2012
2	Analysis of RAD51C germline mutations in high-risk breast and ovarian cancer families and ovarian cancer patients. ⁶ ⁵⁷	Thompson ER...Campbell IG	21990120	2012
3	RAD51C is a susceptibility gene for ovarian cancer. ⁵⁷ ⁶	Pelttari LM...Nevanlinna H	21616938	2011
4	Germline mutations in breast and ovarian cancer pedigrees establish RAD51C as a human cancer susceptibility gene. ⁶ ⁵⁷	Meindl A...Hanenberg H	20400964	2010
5	Almost 2% of Spanish breast cancer families are associated to germline pathogenic mutations in the ATM gene. ⁶	Tavera-Tapia A...Osorio A	27913932	2017
6	Hereditary truncating mutations of DNA repair and other genes in BRCA1/BRCA2/PALB2-negatively tested breast cancer patients. ⁶	Lhota F...Kleibl Z	26822949	2016
7	Pathogenic and likely pathogenic variant prevalence among the first 10,000 patients referred for next-generation cancer panel testing. ⁶	Susswein LR...Chung WK	26681312	2016
8	Inherited Mutations in Women With Ovarian Carcinoma. ⁶	Norquist BM...Birrer MJ	26720728	2016
9	Patterns and functional implications of rare germline variants across 12 cancer types. ⁶	Lu C...Ding L	26689913	2015
10	Contribution of Germline Mutations in the RAD51B, RAD51C, and RAD51D Genes to Ovarian Cancer in the Population. ⁶	Song H...Pharoah PD	26261251	2015
11	Mutation Analysis of the RAD51C and RAD51D Genes in High-Risk Ovarian Cancer Patients and Families from the Czech Republic. ⁶	Janatova M...Pohlreich P	26057125	2015
12	Breast cancer-associated missense mutants of the PALB2 WD40 domain, which directly binds RAD51C, RAD51 and BRCA2, disrupt DNA repair. ⁶	Park JY...Andreassen PR	24141787	2014
13	RAD51C germline mutations found in Spanish site-specific breast cancer and breast-ovarian cancer families. ⁶	Blanco A...Vega A	25086635	2014
14	Germline mutation in the RAD51B gene confers predisposition to breast cancer. ⁶	Golmard L...Stoppa-Lyonnet D	24139550	2013
15	Predominance of pathogenic missense variants in the RAD51C gene occurring in breast and ovarian cancer families. ⁶	Osorio A...Benitez J	22451500	2012
16	Distinct roles of FANCO/RAD51C protein in DNA damage signaling and repair: implications for Fanconi anemia and breast cancer susceptibility. ⁶	Somyajit K...Nagaraju G	22167183	2012
17	Further evidence for the contribution of the RAD51C gene in hereditary breast and ovarian cancer susceptibility. ⁶	Vuorela M...Winqvist R	21750962	2011
18	Mutations in 12 genes for inherited ovarian, fallopian tube, and peritoneal carcinoma identified by massively parallel sequencing. ⁶	Walsh T...Swisher EM	22006311	2011
19	A HRM-based screening method detects RAD51C germ-line deleterious mutations in Spanish breast and ovarian cancer families. ⁶	Romero A...de la Hoya M	21537932	2011
20	Identification of functional domains in the RAD51L2 (RAD51C) protein and its requirement for gene conversion. ⁶	French CA...Thacker J	12966089	2003

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Genes for Breast-Ovarian Cancer, Familial 3

Genes related to Breast-Ovarian Cancer, Familial 3 (1 elite genes):

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubMed IDs
1	RAD51C	RAD51 Paralog C	Protein Coding	1394.38	Molecular basis known ⁵⁷ Pathogenic ⁶ Causative variation ⁷² Genetic Tests ²⁹ Susceptibility factor ⁵⁷ Likely pathogenic ⁶ GeneCards inferred via : Disorders Variants (show sections)

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Variations for Breast-Ovarian Cancer, Familial 3

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

⁶ (show top 50) (show all 104)

#	Gene	Name	Type	Significance	ClinVarId	dbSNP ID	Position
1	RAD51C	NM_058216.3(RAD51C):c.904+5G>T	SNV	Likely pathogenic, risk factor	142762	rs587782702	GRCh37: 17:56798178-56798178 GRCh38: 17:58720817-58720817
2	RAD51C	NM_058216.3(RAD51C):c.905-2_905-1del	Deletion	Pathogenic	141768	rs587781995	GRCh37: 17:56801399-56801400 GRCh38: 17:58724038-58724039
3	RAD51C	NM_058216.3(RAD51C):c.701C>G (p.Ser234Ter)	SNV	Pathogenic	142919	rs587782818	GRCh37: 17:56780686-56780686 GRCh38: 17:58703325-58703325
4	RAD51C	NM_058216.3(RAD51C):c.397C>T (p.Gln133Ter)	SNV	Pathogenic	31556	rs387907159	GRCh37: 17:56772543-56772543 GRCh38: 17:58695182-58695182
5	RAD51C	NM_058216.3(RAD51C):c.97C>T (p.Gln33Ter)	SNV	Pathogenic	142534	rs587782528	GRCh37: 17:56770101-56770101 GRCh38: 17:58692740-58692740
6	RAD51C	NC_000017.11:g.58709788_58734292del	Deletion	Pathogenic	976323		GRCh37: GRCh38:
7	RAD51C	NM_058216.2:c.(235+1_236-1)_(*120_?)del	Deletion	Pathogenic	982044		GRCh37: GRCh38:
8	RAD51C	NM_058216.3(RAD51C):c.572-1G>C	SNV	Pathogenic	480497	rs1413872299	GRCh37: 17:56780556-56780556 GRCh38: 17:58703195-58703195
9	RAD51C	NM_058216.3(RAD51C):c.955C>T (p.Arg319Ter)	SNV	Pathogenic	140799	rs587781287	GRCh37: 17:56801451-56801451 GRCh38: 17:58724090-58724090
10	RAD51C	NM_058216.3(RAD51C):c.706-2A>G	SNV	Pathogenic	128209	rs587780259	GRCh37: 17:56787218-56787218 GRCh38: 17:58709857-58709857
11	RAD51C	NM_058216.3(RAD51C):c.732del (p.Ile244fs)	Deletion	Pathogenic	409860	rs1060502601	GRCh37: 17:56787245-56787245 GRCh38: 17:58709884-58709884
12	RAD51C	NM_058216.3(RAD51C):c.577C>T (p.Arg193Ter)	SNV	Pathogenic	140849	rs200293302	GRCh37: 17:56780562-56780562 GRCh38: 17:58703201-58703201
13	RAD51C	NM_058216.3(RAD51C):c.706-2A>G	SNV	Pathogenic	128209	rs587780259	GRCh37: 17:56787218-56787218 GRCh38: 17:58709857-58709857
14	RAD51C	NM_058216.3(RAD51C):c.93del (p.Phe32fs)	Deletion	Pathogenic	182847	rs730881942	GRCh37: 17:56770094-56770094 GRCh38: 17:58692733-58692733
15	RAD51C	NM_058216.3(RAD51C):c.224dup (p.Tyr75Ter)	Duplication	Pathogenic	182844	rs730881939	GRCh37: 17:56772369-56772370 GRCh38: 17:58695008-58695009
16	RAD51C	NM_058216.3(RAD51C):c.774del (p.Thr259fs)	Deletion	Pathogenic	419188	rs754367349	GRCh37: 17:56787288-56787288 GRCh38: 17:58709927-58709927
17	RAD51C	NM_058216.3(RAD51C):c.709C>T (p.Arg237Ter)	SNV	Pathogenic	186364	rs770637624	GRCh37: 17:56787223-56787223 GRCh38: 17:58709862-58709862
18	RAD51C	NM_058216.3(RAD51C):c.709C>T (p.Arg237Ter)	SNV	Pathogenic	186364	rs770637624	GRCh37: 17:56787223-56787223 GRCh38: 17:58709862-58709862
19	RAD51C	NM_058216.3(RAD51C):c.1026+5_1026+7del	Deletion	Pathogenic/Likely pathogenic	128201	rs587781410	GRCh37: 17:56809909-56809911 GRCh38: 17:58732548-58732550
20	RAD51C	NM_058216.3(RAD51C):c.1026+5_1026+7del	Deletion	Likely pathogenic	128201	rs587781410	GRCh37: 17:56809909-56809911 GRCh38: 17:58732548-58732550
21	RAD51C	NM_058216.3(RAD51C):c.934C>T (p.Arg312Trp)	SNV	Likely pathogenic	182836	rs730881932	GRCh37: 17:56801430-56801430 GRCh38: 17:58724069-58724069
22	RAD51C	NM_058216.3(RAD51C):c.774del (p.Thr259fs)	Deletion	Likely pathogenic	419188	rs754367349	GRCh37: 17:56787288-56787288 GRCh38: 17:58709927-58709927
23	RAD51C	NM_058216.3(RAD51C):c.914G>A (p.Trp305Ter)	SNV	Likely pathogenic	232614	rs876659874	GRCh37: 17:56801410-56801410 GRCh38: 17:58724049-58724049
24	RAD51C	NM_058216.3(RAD51C):c.837+1G>T	SNV	Likely pathogenic	241779	rs760235677	GRCh37: 17:56787352-56787352 GRCh38: 17:58709991-58709991
25	RAD51C	NM_058216.3(RAD51C):c.404+2T>C	SNV	Likely pathogenic	182835	rs730881931	GRCh37: 17:56772552-56772552 GRCh38: 17:58695191-58695191
26	RAD51C	NM_058216.3(RAD51C):c.414G>C (p.Leu138Phe)	SNV	Likely pathogenic	6825	rs267606999	GRCh37: 17:56774063-56774063 GRCh38: 17:58696702-58696702
27	overlap with 2 genes		Duplication	Likely pathogenic	427857		GRCh37: 17:56738493-56802671 GRCh38:
28	RAD51C	NM_058216.3(RAD51C):c.405-1G>C	SNV	Likely pathogenic	141823	rs587782036	GRCh37: 17:56774053-56774053 GRCh38: 17:58696692-58696692
29	RAD51C	NM_058216.3(RAD51C):c.414G>C (p.Leu138Phe)	SNV	risk factor	6825	rs267606999	GRCh37: 17:56774063-56774063 GRCh38: 17:58696702-58696702
30	RAD51C	NM_058216.3(RAD51C):c.374G>T (p.Gly125Val)	SNV	risk factor	6824	rs267606998	GRCh37: 17:56772520-56772520 GRCh38: 17:58695159-58695159
31	RAD51C	NM_058216.3(RAD51C):c.145+2T>G	SNV	Likely pathogenic	372087	rs1057517641	GRCh37: 17:56770151-56770151 GRCh38: 17:58692790-58692790
32	RAD51C	NM_058216.3(RAD51C):c.93del (p.Phe32fs)	Deletion	risk factor	182847	rs730881942	GRCh37: 17:56770094-56770094 GRCh38: 17:58692733-58692733
33	RAD51C	NM_058216.3(RAD51C):c.230del (p.Gly77fs)	Deletion	risk factor	31557	rs1057519355	GRCh37: 17:56772375-56772375 GRCh38: 17:58695014-58695014
34	RAD51C	NM_058216.3(RAD51C):c.837+1G>A	SNV	risk factor	229854	rs760235677	GRCh37: 17:56787352-56787352 GRCh38: 17:58709991-58709991
35	RAD51C	NM_058216.3(RAD51C):c.905-2_905-1del	Deletion	Likely pathogenic	141768	rs587781995	GRCh37: 17:56801399-56801400 GRCh38: 17:58724038-58724039
36	RAD51C	NM_058216.3(RAD51C):c.145+12T>G	SNV	Conflicting interpretations of pathogenicity	138870	rs377297129	GRCh37: 17:56770161-56770161 GRCh38: 17:58692800-58692800
37	RAD51C	NM_058216.3(RAD51C):c.506T>C (p.Val169Ala)	SNV	Conflicting interpretations of pathogenicity	128206	rs587780256	GRCh37: 17:56774155-56774155 GRCh38: 17:58696794-58696794
38	RAD51C	NM_058216.3(RAD51C):c.146-8A>G	SNV	Conflicting interpretations of pathogenicity	136156	rs201079501	GRCh37: 17:56772284-56772284 GRCh38: 17:58694923-58694923
39	RAD51C	NM_058216.3(RAD51C):c.790G>A (p.Gly264Ser)	SNV	Conflicting interpretations of pathogenicity	128211	rs147241704	GRCh37: 17:56787304-56787304 GRCh38: 17:58709943-58709943
40	RAD51C	NM_058216.3(RAD51C):c.458G>A (p.Gly153Asp)	SNV	Uncertain significance	185444	rs765730332	GRCh37: 17:56774107-56774107 GRCh38: 17:58696746-58696746
41	RAD51C	NM_058216.3(RAD51C):c.571+4A>G	SNV	Uncertain significance	128207	rs587780257	GRCh37: 17:56774224-56774224 GRCh38: 17:58696863-58696863
42	RAD51C	NM_058216.3(RAD51C):c.571+4A>G	SNV	Uncertain significance	128207	rs587780257	GRCh37: 17:56774224-56774224 GRCh38: 17:58696863-58696863
43	RAD51C	NM_058216.3(RAD51C):c.1102C>T (p.Arg368Trp)	SNV	Uncertain significance	128202	rs587780253	GRCh37: 17:56811554-56811554 GRCh38: 17:58734193-58734193
44	RAD51C	NM_058216.3(RAD51C):c.640C>T (p.Arg214Cys)	SNV	Uncertain significance	141324	rs140804406	GRCh37: 17:56780625-56780625 GRCh38: 17:58703264-58703264
45	RAD51C	NM_058216.3(RAD51C):c.317C>T (p.Ala106Val)	SNV	Uncertain significance	409852	rs1060502594	GRCh37: 17:56772463-56772463 GRCh38: 17:58695102-58695102
46	RAD51C	NM_058216.3(RAD51C):c.772C>T (p.Arg258Cys)	SNV	Uncertain significance	142453	rs587782474	GRCh37: 17:56787286-56787286 GRCh38: 17:58709925-58709925
47	RAD51C	NM_058216.3(RAD51C):c.428A>G (p.Gln143Arg)	SNV	Uncertain significance	128205	rs587780255	GRCh37: 17:56774077-56774077 GRCh38: 17:58696716-58696716
48	RAD51C	NM_058216.3(RAD51C):c.431T>C (p.Ile144Thr)	SNV	Uncertain significance	142840	rs28363307	GRCh37: 17:56774080-56774080 GRCh38: 17:58696719-58696719
49	RAD51C	NM_058216.3(RAD51C):c.705G>T (p.Lys235Asn)	SNV	Uncertain significance	216807	rs755849719	GRCh37: 17:56780690-56780690 GRCh38: 17:58703329-58703329
50	RAD51C	NM_058216.3(RAD51C):c.784T>G (p.Leu262Val)	SNV	Uncertain significance	128210	rs149331537	GRCh37: 17:56787298-56787298 GRCh38: 17:58709937-58709937

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

⁷²

#	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

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Expression for Breast-Ovarian Cancer, Familial 3

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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Breast-Ovarian Cancer, Familial 3 (BROVCA3)

Aliases & Classifications for Breast-Ovarian Cancer, Familial 3

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

Classifications:

External Ids:

Summaries for Breast-Ovarian Cancer, Familial 3

Related Diseases for Breast-Ovarian Cancer, Familial 3

Diseases in the Hereditary Breast Ovarian Cancer Syndrome family:

Symptoms & Phenotypes for Breast-Ovarian Cancer, Familial 3

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

Clinical features from OMIM®:

Drugs & Therapeutics for Breast-Ovarian Cancer, Familial 3

Genetic Tests for Breast-Ovarian Cancer, Familial 3

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

Anatomical Context for Breast-Ovarian Cancer, Familial 3

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

Publications for Breast-Ovarian Cancer, Familial 3

Articles related to Breast-Ovarian Cancer, Familial 3:

Genes for Breast-Ovarian Cancer, Familial 3

Genes related to Breast-Ovarian Cancer, Familial 3 (1 elite genes):

Variations for Breast-Ovarian Cancer, Familial 3

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

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

Expression for Breast-Ovarian Cancer, Familial 3

Pathways for Breast-Ovarian Cancer, Familial 3

GO Terms for Breast-Ovarian Cancer, Familial 3

Sources for Breast-Ovarian Cancer, Familial 3