Gene: RAD51L3-RFFL
Alternate names for this Gene:
Gene Summary:
Gene is located in Chromosome:
Location in Chromosome :
Description of this Gene:
Type of Gene:
Gene: RAD51D
Alternate names for this Gene: BROVCA4|R51H3|RAD51L3|TRAD
Gene Summary: The protein encoded by this gene is a member of the RAD51 protein family. RAD51 family members are highly similar to bacterial RecA and Saccharomyces cerevisiae Rad51, which are known to be involved in the homologous recombination and repair of DNA. This protein forms a complex with several other members of the RAD51 family, including RAD51L1, RAD51L2, and XRCC2. The protein complex formed with this protein has been shown to catalyze homologous pairing between single- and double-stranded DNA, and is thought to play a role in the early stage of recombinational repair of DNA. Alternative splicing results in multiple transcript variants. Read-through transcription also exists between this gene and the downstream ring finger and FYVE-like domain containing 1 (RFFL) gene.
Gene is located in Chromosome: 17
Location in Chromosome : 17q12
Description of this Gene: RAD51 paralog D
Type of Gene: protein-coding
rs1060502959 in
RAD51L3-RFFL;RAD51D gene and
BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 4
PMID 10749867 2000 Evidence for simultaneous protein interactions between human Rad51 paralogs.
PMID 14704354 2004 Domain mapping of the Rad51 paralog protein complexes.
PMID 19327148 2009 Functional characterization and identification of mouse Rad51d splice variants.
PMID 21111057 2011 Structural and functional characterization of the N-terminal domain of human Rad51D.
PMID 26720728 2016 Inherited Mutations in Women With Ovarian Carcinoma.
PMID 21822267 2011 Germline mutations in RAD51D confer susceptibility to ovarian cancer.
PMID 26261251 2015 Contribution of Germline Mutations in the RAD51B, RAD51C, and RAD51D Genes to Ovarian Cancer in the Population.
PMID 23372765 2013 Analysis of RAD51D in ovarian cancer patients and families with a history of ovarian or breast cancer.
PMID 25445424 2015 Breast cancer in a RAD51D mutation carrier: case report and review of the literature.
PMID 22415235 2012 Mutation analysis of RAD51D in non-BRCA1/2 ovarian and breast cancer families.
PMID 26681312 2016 Pathogenic and likely pathogenic variant prevalence among the first 10,000 patients referred for next-generation cancer panel testing.
PMID 27978560 2017 Prevalence and Spectrum of Germline Cancer Susceptibility Gene Mutations Among Patients With Early-Onset Colorectal Cancer.
PMID 24130102 2014 About 1% of the breast and ovarian Spanish families testing negative for BRCA1 and BRCA2 are carriers of RAD51D pathogenic variants.
PMID 28591191 2017 Reanalysis of BRCA1/2 negative high risk ovarian cancer patients reveals novel germline risk loci and insights into missing heritability.
PMID 28724667 2017 Germline Mutations in Cancer Susceptibility Genes in a Large Series of Unselected Breast Cancer Patients.
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 27913932 2017 Almost 2% of Spanish breast cancer families are associated to germline pathogenic mutations in the ATM gene.
PMID 26822949 2016 Hereditary truncating mutations of DNA repair and other genes in BRCA1/BRCA2/PALB2-negatively tested breast cancer patients.
rs387906843 in
RAD51L3-RFFL;RAD51D gene and
Hereditary Breast and Ovarian Cancer Syndrome
PMID 25445424 2015 Breast cancer in a RAD51D mutation carrier: case report and review of the literature.
PMID 21822267 2011 Germline mutations in RAD51D confer susceptibility to ovarian cancer.
PMID 26057125 2015 Mutation Analysis of the RAD51C and RAD51D Genes in High-Risk Ovarian Cancer Patients and Families from the Czech Republic.
PMID 23372765 2013 Analysis of RAD51D in ovarian cancer patients and families with a history of ovarian or breast cancer.
rs1555567649 in
RAD51L3-RFFL;RAD51D gene and
Neoplastic Syndromes, Hereditary
PMID 27616075 2017 Gene panel sequencing in familial breast/ovarian cancer patients identifies multiple novel mutations also in genes others than BRCA1/2.
PMID 28821472 2018 Surgical Findings and Outcomes in Premenopausal Breast Cancer Patients Undergoing Oophorectomy: A Multicenter Review From the Society of Gynecologic Surgeons Fellows Pelvic Research Network.
PMID 22415235 2012 Mutation analysis of RAD51D in non-BRCA1/2 ovarian and breast cancer families.
PMID 23372765 2013 Analysis of RAD51D in ovarian cancer patients and families with a history of ovarian or breast cancer.
PMID 21822267 2011 Germline mutations in RAD51D confer susceptibility to ovarian cancer.
PMID 25445424 2015 Breast cancer in a RAD51D mutation carrier: case report and review of the literature.
PMID 26261251 2015 Contribution of Germline Mutations in the RAD51B, RAD51C, and RAD51D Genes to Ovarian Cancer in the Population.
PMID 27153395 2016 Evaluation of ACMG-Guideline-Based Variant Classification of Cancer Susceptibility and Non-Cancer-Associated Genes in Families Affected by Breast Cancer.
PMID 27273131 2016 Sensitivity of BRCA1/2 testing in high-risk breast/ovarian/male breast cancer families: little contribution of comprehensive RNA/NGS panel testing.
PMID 26681312 2016 Pathogenic and likely pathogenic variant prevalence among the first 10,000 patients referred for next-generation cancer panel testing.
PMID 24130102 2014 About 1% of the breast and ovarian Spanish families testing negative for BRCA1 and BRCA2 are carriers of RAD51D pathogenic variants.
PMID 26720728 2016 Inherited Mutations in Women With Ovarian Carcinoma.
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 28724667 2017 Germline Mutations in Cancer Susceptibility Genes in a Large Series of Unselected Breast Cancer Patients.
PMID 22275364 2012 RAD51 protein ATP cap regulates nucleoprotein filament stability.
PMID 21111057 2011 Structural and functional characterization of the N-terminal domain of human Rad51D.