Gene: RAD50

Alternate names for this Gene: NBSLD|RAD502|hRad50

Gene Summary: The protein encoded by this gene is highly similar to Saccharomyces cerevisiae Rad50, a protein involved in DNA double-strand break repair. This protein forms a complex with MRE11 and NBS1. The protein complex binds to DNA and displays numerous enzymatic activities that are required for nonhomologous joining of DNA ends. This protein, cooperating with its partners, is important for DNA double-strand break repair, cell cycle checkpoint activation, telomere maintenance, and meiotic recombination. Knockout studies of the mouse homolog suggest this gene is essential for cell growth and viability. Mutations in this gene are the cause of Nijmegen breakage syndrome-like disorder.

Gene is located in Chromosome: 5

Location in Chromosome : 5q31.1

Description of this Gene: RAD50 double strand break repair protein

Type of Gene: protein-coding

rs9687749 in RAD50 gene and Allergic rhinitis (disorder) PMID 30013184 2018 Genome-wide association and HLA fine-mapping studies identify risk loci and genetic pathways underlying allergic rhinitis.

rs2244012 in RAD50 gene and Asthma PMID 20159242 2010 Multiple SNPs in the RAD50-IL13 region on chromosome 5q31.1 were associated with asthma: rs2244012 in intron 2 of RAD50 (P = 3.04E-07).

PMID 27182965 2016 Detection and interpretation of shared genetic influences on 42 human traits.

PMID 30929738 2019 Genetic Architectures of Childhood- and Adult-Onset Asthma Are Partly Distinct.

PMID 29785011 2018 A genome-wide cross-trait analysis from UK Biobank highlights the shared genetic architecture of asthma and allergic diseases.

rs2706345 in RAD50 gene and Blood basophil count (lab test) PMID 27863252 2016 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease.

rs2299012 in RAD50 gene and Childhood asthma PMID 30929738 2019 Genetic Architectures of Childhood- and Adult-Onset Asthma Are Partly Distinct.

rs17772583 in RAD50 gene and Coronary heart disease PMID 21966275 2011 Large-scale gene-centric analysis identifies novel variants for coronary artery disease.

rs2897443 in RAD50 gene and Dermatitis, Atopic PMID 23886662 2013 A genome-wide association study of atopic dermatitis identifies loci with overlapping effects on asthma and psoriasis.

PMID 25574825 2015 Genome-wide comparative analysis of atopic dermatitis and psoriasis gives insight into opposing genetic mechanisms.

rs2706345 in RAD50 gene and Eosinophil count procedure PMID 27863252 2016 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease.

PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

rs2706346 in RAD50 gene and Narcolepsy PMID 19629137 2009 Genome-wide association database developed in the Japanese Integrated Database Project.

rs104895046 in RAD50 gene and Neoplastic Syndromes, Hereditary PMID 20805886 2010 Unique DNA repair gene variations and potential associations with the primary antibody deficiency syndromes IgAD and CVID.

PMID 16385572 2006 Evaluation of RAD50 in familial breast cancer predisposition.

PMID 19409520 2009 Human RAD50 deficiency in a Nijmegen breakage syndrome-like disorder.

PMID 24894818 2014 Rare key functional domain missense substitutions in MRE11A, RAD50, and NBN contribute to breast cancer susceptibility: results from a Breast Cancer Family Registry case-control mutation-screening study.

PMID 26822949 2016 Hereditary truncating mutations of DNA repair and other genes in BRCA1/BRCA2/PALB2-negatively tested 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 26787654 2016 Multigene testing of moderate-risk genes: be mindful of the missense.

PMID 18281469 2008 Mutational analysis of thirty-two double-strand DNA break repair genes in breast and pancreatic cancers.

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

PMID 24763289 2014 Utilization of multigene panels in hereditary cancer predisposition testing: analysis of more than 2,000 patients.

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

PMID 26023681 2015 Use of Whole Genome Sequencing for Diagnosis and Discovery in the Cancer Genetics Clinic.

PMID 19190165 2009 Rad50 c.687delT does not contribute significantly to familial breast cancer in a French population.

PMID 14684699 2003 Mutation screening of Mre11 complex genes: indication of RAD50 involvement in breast and ovarian cancer susceptibility.

PMID 24093751 2013 Germline variants in MRE11/RAD50/NBN complex genes in childhood leukemia.

PMID 16474176 2006 RAD50 and NBS1 are breast cancer susceptibility genes associated with genomic instability.

PMID 19092773 2009 Breast cancer susceptibility: current knowledge and implications for genetic counselling.

PMID 21811815 2012 RAD50 and NBS1 are not likely to be susceptibility genes in Chinese non-BRCA1/2 hereditary breast cancer.

PMID 20571869 2010 RAD50 gene mutations are not likely a risk factor for breast cancer in Poland.

PMID 19904603 2010 Some common mutations of RAD50 and NBS1 in western populations do not contribute significantly to Chinese non-BRCA1/2 hereditary breast cancer.

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

PMID 25151137 2015 Detection of inherited mutations for hereditary cancer using target enrichment and next generation sequencing.

rs1060501941 in RAD50 gene and Nijmegen Breakage Syndrome-Like Disorder PMID 26786923 2016 Panel Testing for Familial Breast Cancer: Calibrating the Tension Between Research and Clinical Care.

PMID 28376765 2017 The germline variants in DNA repair genes in pediatric medulloblastoma: a challenge for current therapeutic strategies.

PMID 26689913 2015 Patterns and functional implications of rare germline variants across 12 cancer types.

PMID 21778326 2011 Functional characterization connects individual patient mutations in ataxia telangiectasia mutated (ATM) with dysfunction of specific DNA double-strand break-repair signaling pathways.

PMID 19409520 2009 Human RAD50 deficiency in a Nijmegen breakage syndrome-like disorder.

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

PMID 18281469 2008 Mutational analysis of thirty-two double-strand DNA break repair genes in breast and pancreatic cancers.

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

PMID 16474176 2006 RAD50 and NBS1 are breast cancer susceptibility genes associated with genomic instability.

PMID 14684699 2003 Mutation screening of Mre11 complex genes: indication of RAD50 involvement in breast and ovarian cancer susceptibility.

PMID 16385572 2006 Evaluation of RAD50 in familial breast cancer predisposition.

rs6596086 in RAD50 gene and Psoriasis PMID 25574825 2015 Genome-wide comparative analysis of atopic dermatitis and psoriasis gives insight into opposing genetic mechanisms.