Condition: ATAXIA-TELANGIECTASIA-LIKE DISORDER
rs587781384 in
MRE11 gene and
ATAXIA-TELANGIECTASIA-LIKE DISORDER
PMID 24763289 2014 Utilization of multigene panels in hereditary cancer predisposition testing: analysis of more than 2,000 patients.
PMID 23912341 2013 Disease-associated MRE11 mutants impact ATM/ATR DNA damage signaling by distinct mechanisms.
PMID 23080121 2012 Mre11 ATLD17/18 mutation retains Tel1/ATM activity but blocks DNA double-strand break repair.
PMID 29348823 2017 Prevalence of pathogenic germline variants detected by multigene sequencing in unselected Japanese patients with ovarian cancer.
PMID 21227757 2011 Two unrelated patients with MRE11A mutations and Nijmegen breakage syndrome-like severe microcephaly.
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 27329137 2016 Rare disruptive mutations and their contribution to the heritable risk of colorectal cancer.
PMID 11371508 2001 hMRE11: genomic structure and a null mutation identified in a transcript protected from nonsense-mediated mRNA decay.
PMID 10612394 1999 The DNA double-strand break repair gene hMRE11 is mutated in individuals with an ataxia-telangiectasia-like disorder.
rs371077728 in
MRE11;MIR548L gene and
ATAXIA-TELANGIECTASIA-LIKE DISORDER
PMID 24763289 2014 Utilization of multigene panels in hereditary cancer predisposition testing: analysis of more than 2,000 patients.