Condition: Nijmegen Breakage Syndrome-Like Disorder


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.