Gene: MRE11 ×
Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs137852761
rs137852761
MRE11
0.710 GeneticVariation BEFREE Interestingly, the 1714C-->T mutation is the same as previously identified in an unrelated English ATLD family (probands ATLD3 and ATLD4), suggesting an important role for NMD in saving potentially lethal mutations. 15269180

2004
dbSNP: rs137852761
rs137852761
MRE11
A 0.710 CausalMutation CLINVAR

dbSNP: rs759130031
rs759130031
MRE11
T 0.700 CausalMutation CLINVAR Prevalence of pathogenic germline variants detected by multigene sequencing in unselected Japanese patients with ovarian cancer. 29348823

2017
dbSNP: rs774277300
rs774277300
MRE11
A 0.700 CausalMutation CLINVAR Rare disruptive mutations and their contribution to the heritable risk of colorectal cancer. 27329137

2016
dbSNP: rs774277300
rs774277300
MRE11
A 0.700 CausalMutation CLINVAR Inherited mutations in 17 breast cancer susceptibility genes among a large triple-negative breast cancer cohort unselected for family history of breast cancer. 25452441

2015
dbSNP: rs371077728
rs371077728
MRE11 ; MIR548L
A 0.700 CausalMutation CLINVAR Utilization of multigene panels in hereditary cancer predisposition testing: analysis of more than 2,000 patients. 24763289

2014
dbSNP: rs587781384
rs587781384
MRE11
A 0.700 CausalMutation CLINVAR Utilization of multigene panels in hereditary cancer predisposition testing: analysis of more than 2,000 patients. 24763289

2014
dbSNP: rs759130031
rs759130031
MRE11
T 0.700 CausalMutation CLINVAR Disease-associated MRE11 mutants impact ATM/ATR DNA damage signaling by distinct mechanisms. 23912341

2013
dbSNP: rs759130031
rs759130031
MRE11
T 0.700 CausalMutation CLINVAR Mre11 ATLD17/18 mutation retains Tel1/ATM activity but blocks DNA double-strand break repair. 23080121

2012
dbSNP: rs759130031
rs759130031
MRE11
T 0.700 CausalMutation CLINVAR Two unrelated patients with MRE11A mutations and Nijmegen breakage syndrome-like severe microcephaly. 21227757

2011
dbSNP: rs878854776
rs878854776
MRE11
C 0.700 GeneticVariation CLINVAR hMRE11: genomic structure and a null mutation identified in a transcript protected from nonsense-mediated mRNA decay. 11371508

2001
dbSNP: rs878854776
rs878854776
MRE11
C 0.700 GeneticVariation CLINVAR The DNA double-strand break repair gene hMRE11 is mutated in individuals with an ataxia-telangiectasia-like disorder. 10612394

1999
dbSNP: rs137852760
rs137852760
MRE11
C 0.700 GeneticVariation CLINVAR

dbSNP: rs587781442
rs587781442
MRE11
TGAAGTGGTAGGAAAAATGTC 0.700 CausalMutation CLINVAR

dbSNP: rs780001540
rs780001540
MRE11
A 0.700 CausalMutation CLINVAR

dbSNP: rs786203931
rs786203931
MRE11
TG 0.700 CausalMutation CLINVAR

dbSNP: rs137852763
rs137852763
MRE11
0.020 GeneticVariation BEFREE This is the biggest ATLD group of patients that may suggest noticeable heterozygous carriers of G630C mutation in the general population. 18652530

2008
dbSNP: rs137852763
rs137852763
MRE11
0.020 GeneticVariation BEFREE Saccadic dysfunction without head thrusts and convergence abnormality are common in ATLD secondary to homozygous W210C MRE11 mutation. 18083591

2008