BROVCA3
MCID: BRS088
MIFTS: 24

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 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:



External Ids:

OMIM® 57 613399
OMIM Phenotypic Series 57 PS604370
SNOMED-CT via HPO 68 254838004

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

Related Diseases for Breast-Ovarian Cancer, Familial 3

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)

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 29 RAD51C

Anatomical Context for Breast-Ovarian Cancer, Familial 3

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

40
Breast, Prostate

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
22538716 2012
2
Analysis of RAD51C germline mutations in high-risk breast and ovarian cancer families and ovarian cancer patients. 6 57
21990120 2012
3
RAD51C is a susceptibility gene for ovarian cancer. 57 6
21616938 2011
4
Germline mutations in breast and ovarian cancer pedigrees establish RAD51C as a human cancer susceptibility gene. 6 57
20400964 2010
5
Almost 2% of Spanish breast cancer families are associated to germline pathogenic mutations in the ATM gene. 6
27913932 2017
6
Hereditary truncating mutations of DNA repair and other genes in BRCA1/BRCA2/PALB2-negatively tested breast cancer patients. 6
26822949 2016
7
Pathogenic and likely pathogenic variant prevalence among the first 10,000 patients referred for next-generation cancer panel testing. 6
26681312 2016
8
Inherited Mutations in Women With Ovarian Carcinoma. 6
26720728 2016
9
Patterns and functional implications of rare germline variants across 12 cancer types. 6
26689913 2015
10
Contribution of Germline Mutations in the RAD51B, RAD51C, and RAD51D Genes to Ovarian Cancer in the Population. 6
26261251 2015
11
Mutation Analysis of the RAD51C and RAD51D Genes in High-Risk Ovarian Cancer Patients and Families from the Czech Republic. 6
26057125 2015
12
Breast cancer-associated missense mutants of the PALB2 WD40 domain, which directly binds RAD51C, RAD51 and BRCA2, disrupt DNA repair. 6
24141787 2014
13
RAD51C germline mutations found in Spanish site-specific breast cancer and breast-ovarian cancer families. 6
25086635 2014
14
Germline mutation in the RAD51B gene confers predisposition to breast cancer. 6
24139550 2013
15
Predominance of pathogenic missense variants in the RAD51C gene occurring in breast and ovarian cancer families. 6
22451500 2012
16
Distinct roles of FANCO/RAD51C protein in DNA damage signaling and repair: implications for Fanconi anemia and breast cancer susceptibility. 6
22167183 2012
17
Further evidence for the contribution of the RAD51C gene in hereditary breast and ovarian cancer susceptibility. 6
21750962 2011
18
Mutations in 12 genes for inherited ovarian, fallopian tube, and peritoneal carcinoma identified by massively parallel sequencing. 6
22006311 2011
19
A HRM-based screening method detects RAD51C germ-line deleterious mutations in Spanish breast and ovarian cancer families. 6
21537932 2011
20
Identification of functional domains in the RAD51L2 (RAD51C) protein and its requirement for gene conversion. 6
12966089 2003

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

Expression for Breast-Ovarian Cancer, Familial 3

Search GEO for disease gene expression data 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

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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