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

rs1060502601 in RAD51C gene and BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 3 PMID 26261251 2015 Contribution of Germline Mutations in the RAD51B, RAD51C, and RAD51D Genes to Ovarian Cancer in the Population.

PMID 26720728 2016 Inherited Mutations in Women With Ovarian Carcinoma.

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

PMID 24141787 2014 Breast cancer-associated missense mutants of the PALB2 WD40 domain, which directly binds RAD51C, RAD51 and BRCA2, disrupt DNA repair.

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

PMID 22167183 2012 Distinct roles of FANCO/RAD51C protein in DNA damage signaling and repair: implications for Fanconi anemia and breast cancer susceptibility.

PMID 22451500 2012 Predominance of pathogenic missense variants in the RAD51C gene occurring in breast and ovarian cancer families.

PMID 22538716 2012 Germline RAD51C mutations confer susceptibility to ovarian cancer.

PMID 24139550 2013 Germline mutation in the RAD51B gene confers predisposition to breast cancer.

PMID 22006311 2011 Mutations in 12 genes for inherited ovarian, fallopian tube, and peritoneal carcinoma identified by massively parallel sequencing.

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

PMID 21537932 2011 A HRM-based screening method detects RAD51C germ-line deleterious mutations in Spanish breast and ovarian cancer families.

PMID 21750962 2011 Further evidence for the contribution of the RAD51C gene in hereditary breast and ovarian cancer susceptibility.

PMID 25086635 2014 RAD51C germline mutations found in Spanish site-specific breast cancer and breast-ovarian cancer families.

PMID 27913932 2017 Almost 2% of Spanish breast cancer families are associated to germline pathogenic mutations in the ATM gene.

rs1060502601 in RAD51C gene and FANCONI ANEMIA, COMPLEMENTATION GROUP O PMID 26720728 2016 Inherited Mutations in Women With Ovarian Carcinoma.

PMID 26261251 2015 Contribution of Germline Mutations in the RAD51B, RAD51C, and RAD51D Genes to Ovarian Cancer in the Population.

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

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

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

PMID 25980754 2015 Identification of a Variety of Mutations in Cancer Predisposition Genes in Patients With Suspected Lynch Syndrome.

PMID 22538716 2012 Germline RAD51C mutations confer susceptibility to ovarian cancer.

PMID 22725699 2013 Germline RAD51C mutations in ovarian cancer susceptibility.

PMID 26740214 2016 Identification of six pathogenic RAD51C mutations via mutational screening of 1228 Danish individuals with increased risk of hereditary breast and/or ovarian cancer.

PMID 25086635 2014 RAD51C germline mutations found in Spanish site-specific breast cancer and breast-ovarian cancer families.

PMID 22167183 2012 Distinct roles of FANCO/RAD51C protein in DNA damage signaling and repair: implications for Fanconi anemia and breast cancer susceptibility.

PMID 20400963 2010 Mutation of the RAD51C gene in a Fanconi anemia-like disorder.

PMID 26354865 2015 Mammalian RAD51 paralogs protect nascent DNA at stalled forks and mediate replication restart.

PMID 24141787 2014 Breast cancer-associated missense mutants of the PALB2 WD40 domain, which directly binds RAD51C, RAD51 and BRCA2, disrupt DNA repair.

PMID 25292178 2015 Enhanced non-homologous end joining contributes toward synthetic lethality of pathological RAD51C mutants with poly (ADP-ribose) polymerase.

PMID 22451500 2012 Predominance of pathogenic missense variants in the RAD51C gene occurring in breast and ovarian cancer families.

PMID 27328445 2016 Germline mutations in DNA repair genes may predict neoadjuvant therapy response in triple negative breast patients.

PMID 22006311 2011 Mutations in 12 genes for inherited ovarian, fallopian tube, and peritoneal carcinoma identified by massively parallel sequencing.

PMID 24549055 2014 Next-generation sequencing for the diagnosis of hereditary breast and ovarian cancer using genomic capture targeting multiple candidate genes.

PMID 24315737 2014 RAD51C--a new human cancer susceptibility gene for sporadic squamous cell carcinoma of the head and neck (HNSCC).

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

PMID 25452441 2015 Inherited mutations in 17 breast cancer susceptibility genes among a large triple-negative breast cancer cohort unselected for family history of breast cancer.

PMID 24139550 2013 Germline mutation in the RAD51B gene confers predisposition to breast cancer.

PMID 26822949 2016 Hereditary truncating mutations of DNA repair and other genes in BRCA1/BRCA2/PALB2-negatively tested breast cancer patients.

PMID 26687385 2016 Screening for germline mutations in breast/ovarian cancer susceptibility genes in high-risk families in Israel.

PMID 24993905 2014 Pathological features of breast and ovarian cancers in RAD51C germline mutation carriers.

PMID 26848151 2016 Veliparib Alone or in Combination with Mitomycin C in Patients with Solid Tumors With Functional Deficiency in Homologous Recombination Repair.

PMID 21537932 2011 A HRM-based screening method detects RAD51C germ-line deleterious mutations in Spanish breast and ovarian cancer families.

PMID 21750962 2011 Further evidence for the contribution of the RAD51C gene in hereditary breast and ovarian cancer susceptibility.

PMID 27622768 2017 The RAD51C exonic splice-site mutations c.404G>C and c.404G>T are associated with familial breast and ovarian cancer.

PMID 27913932 2017 Almost 2% of Spanish breast cancer families are associated to germline pathogenic mutations in the ATM gene.

PMID 27433846 2016 Inherited DNA-Repair Gene Mutations in Men with Metastatic Prostate Cancer.

rs1060502601 in RAD51C gene and Hereditary Breast and Ovarian Cancer Syndrome PMID 26261251 2015 Contribution of Germline Mutations in the RAD51B, RAD51C, and RAD51D Genes to Ovarian Cancer in the Population.

PMID 29922827 2018 Association Between Inherited Germline Mutations in Cancer Predisposition Genes and Risk of Pancreatic Cancer.

PMID 22538716 2012 Germline RAD51C mutations confer susceptibility to ovarian cancer.

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

PMID 26976419 2016 Frequency of Germline Mutations in 25 Cancer Susceptibility Genes in a Sequential Series of Patients With Breast Cancer.

PMID 26740214 2016 Identification of six pathogenic RAD51C mutations via mutational screening of 1228 Danish individuals with increased risk of hereditary breast and/or ovarian cancer.

PMID 25086635 2014 RAD51C germline mutations found in Spanish site-specific breast cancer and breast-ovarian cancer families.

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

PMID 27230542 2016 RPA and Rad51 constitute a cell intrinsic mechanism to protect the cytosol from self DNA.

PMID 26848151 2016 Veliparib Alone or in Combination with Mitomycin C in Patients with Solid Tumors With Functional Deficiency in Homologous Recombination Repair.

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

PMID 25154786 2015 Identification of a breast cancer family double heterozygote for RAD51C and BRCA2 gene mutations.

PMID 29409816 2018 Mutational analysis of RAD51C and RAD51D genes in hereditary breast and ovarian cancer families from Murcia (southeastern Spain).

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

PMID 22451500 2012 Predominance of pathogenic missense variants in the RAD51C gene occurring in breast and ovarian cancer families.

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

PMID 24993905 2014 Pathological features of breast and ovarian cancers in RAD51C germline mutation carriers.

PMID 23117857 2012 Germline mutations in RAD51C in Jewish high cancer risk families.

rs1413872299 in RAD51C 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 25980754 2015 Identification of a Variety of Mutations in Cancer Predisposition Genes in Patients With Suspected Lynch Syndrome.

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

PMID 22725699 2013 Germline RAD51C mutations in ovarian cancer susceptibility.

PMID 23117857 2012 Germline mutations in RAD51C in Jewish high cancer risk families.

PMID 25086635 2014 RAD51C germline mutations found in Spanish site-specific breast cancer and breast-ovarian cancer families.

PMID 24240112 2014 Germline and somatic mutations in homologous recombination genes predict platinum response and survival in ovarian, fallopian tube, and peritoneal carcinomas.

PMID 22538716 2012 Germline RAD51C mutations confer susceptibility to ovarian cancer.

PMID 26740214 2016 Identification of six pathogenic RAD51C mutations via mutational screening of 1228 Danish individuals with increased risk of hereditary breast and/or ovarian cancer.

PMID 28588062 2017 Secondary Somatic Mutations Restoring RAD51C and RAD51D Associated with Acquired Resistance to the PARP Inhibitor Rucaparib in High-Grade Ovarian Carcinoma.

PMID 22167183 2012 Distinct roles of FANCO/RAD51C protein in DNA damage signaling and repair: implications for Fanconi anemia and breast cancer susceptibility.

PMID 25154786 2015 Identification of a breast cancer family double heterozygote for RAD51C and BRCA2 gene mutations.

PMID 20400963 2010 Mutation of the RAD51C gene in a Fanconi anemia-like disorder.

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

PMID 26678223 2016 Trans-dichlorooxovandium (IV) complex as a novel photoinducible DNA interstrand crosslinker for cancer therapy.

PMID 22451500 2012 Predominance of pathogenic missense variants in the RAD51C gene occurring in breast and ovarian cancer families.

PMID 26354865 2015 Mammalian RAD51 paralogs protect nascent DNA at stalled forks and mediate replication restart.

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

PMID 24993905 2014 Pathological features of breast and ovarian cancers in RAD51C germline mutation carriers.

PMID 24141787 2014 Breast cancer-associated missense mutants of the PALB2 WD40 domain, which directly binds RAD51C, RAD51 and BRCA2, disrupt DNA repair.

PMID 25292178 2015 Enhanced non-homologous end joining contributes toward synthetic lethality of pathological RAD51C mutants with poly (ADP-ribose) polymerase.

PMID 23438602 2013 ATM- and ATR-mediated phosphorylation of XRCC3 regulates DNA double-strand break-induced checkpoint activation and repair.

PMID 28281021 2017 Multi-gene panel testing for hereditary cancer predisposition in unsolved high-risk breast and ovarian cancer patients.

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

PMID 22006311 2011 Mutations in 12 genes for inherited ovarian, fallopian tube, and peritoneal carcinoma identified by massively parallel sequencing.

PMID 24549055 2014 Next-generation sequencing for the diagnosis of hereditary breast and ovarian cancer using genomic capture targeting multiple candidate genes.

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

PMID 24315737 2014 RAD51C--a new human cancer susceptibility gene for sporadic squamous cell carcinoma of the head and neck (HNSCC).

PMID 24139550 2013 Germline mutation in the RAD51B gene confers predisposition to breast cancer.

PMID 25525159 2015 RNA splicing. The human splicing code reveals new insights into the genetic determinants of disease.

PMID 21537932 2011 A HRM-based screening method detects RAD51C germ-line deleterious mutations in Spanish breast and ovarian cancer families.

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

PMID 26848151 2016 Veliparib Alone or in Combination with Mitomycin C in Patients with Solid Tumors With Functional Deficiency in Homologous Recombination Repair.

PMID 21616938 2011 RAD51C is a susceptibility gene for ovarian cancer.

PMID 27622768 2017 The RAD51C exonic splice-site mutations c.404G>C and c.404G>T are associated with familial breast and ovarian cancer.

PMID 28024868 2017 Germline Mutations in PALB2, BRCA1, and RAD51C, Which Regulate DNA Recombination Repair, in Patients With Gastric Cancer.

PMID 27433846 2016 Inherited DNA-Repair Gene Mutations in Men with Metastatic Prostate Cancer.