Gene: RAD51C

Alternate names for this Gene: BROVCA3|FANCO|R51H3|RAD51L2

Gene Summary: This gene is a member of the RAD51 family. RAD51 family members are highly similar to bacterial RecA and Saccharomyces cerevisiae Rad51 and are known to be involved in the homologous recombination and repair of DNA. This protein can interact with other RAD51 paralogs and is reported to be important for Holliday junction resolution. Mutations in this gene are associated with Fanconi anemia-like syndrome. This gene is one of four localized to a region of chromosome 17q23 where amplification occurs frequently in breast tumors. Overexpression of the four genes during amplification has been observed and suggests a possible role in tumor progression. Alternative splicing results in multiple transcript variants.

Gene is located in Chromosome: 17

Location in Chromosome : 17q22

Description of this Gene: RAD51 paralog C

Type of Gene: protein-coding

Gene: LOC105371843

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rs1064792966 in RAD51C;LOC105371843 gene and FANCONI ANEMIA, COMPLEMENTATION GROUP O PMID 12966089 2003 Identification of functional domains in the RAD51L2 (RAD51C) protein and its requirement for gene conversion.

PMID 24800917 2014 Deleterious RAD51C germline mutations rarely predispose to breast and ovarian cancer in Pakistan.

PMID 26270727 2015 Clinical Actionability of Multigene Panel Testing for Hereditary Breast and Ovarian Cancer Risk Assessment.

PMID 20400964 2010 Germline mutations in breast and ovarian cancer pedigrees establish RAD51C as a human cancer susceptibility gene.

PMID 21990120 2012 Analysis of RAD51C germline mutations in high-risk breast and ovarian cancer families and ovarian cancer patients.

PMID 26681312 2016 Pathogenic and likely pathogenic variant prevalence among the first 10,000 patients referred for next-generation cancer panel testing.

PMID 22725699 2013 Germline RAD51C mutations in ovarian cancer susceptibility.

PMID 26824983 2016 Multiple gene sequencing for risk assessment in patients with early-onset or familial breast cancer.

rs730881932 in RAD51C;LOC105371843 gene and Hereditary Breast and Ovarian Cancer Syndrome PMID 22810696 2012 Comprehensive molecular characterization of human colon and rectal cancer.

PMID 28829762 2017 Characterisation of the novel deleterious RAD51C p.Arg312Trp variant and prioritisation criteria for functional analysis of RAD51C missense changes.

rs730881941 in RAD51C;LOC105371843 gene and Neoplastic Syndromes, Hereditary PMID 26261251 2015 Contribution of Germline Mutations in the RAD51B, RAD51C, and RAD51D Genes to Ovarian Cancer in the Population.

PMID 22725699 2013 Germline RAD51C mutations in ovarian cancer susceptibility.

PMID 25470109 2015 Genetic testing for RAD51C mutations: in the clinic and community.

PMID 26824983 2016 Multiple gene sequencing for risk assessment in patients with early-onset or familial breast cancer.

PMID 26720728 2016 Inherited Mutations in Women With Ovarian Carcinoma.