Gene: MRE11

Alternate names for this Gene: ATLD|HNGS1|MRE11A|MRE11B

Gene Summary: This gene encodes a nuclear protein involved in homologous recombination, telomere length maintenance, and DNA double-strand break repair. By itself, the protein has 3' to 5' exonuclease activity and endonuclease activity. The protein forms a complex with the RAD50 homolog; this complex is required for nonhomologous joining of DNA ends and possesses increased single-stranded DNA endonuclease and 3' to 5' exonuclease activities. In conjunction with a DNA ligase, this protein promotes the joining of noncomplementary ends in vitro using short homologies near the ends of the DNA fragments. This gene has a pseudogene on chromosome 3. Alternative splicing of this gene results in two transcript variants encoding different isoforms.

Gene is located in Chromosome: 11

Location in Chromosome : 11q21

Description of this Gene: MRE11 homolog, double strand break repair nuclease

Type of Gene: protein-coding

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.

rs137852759 in MRE11 gene and Ataxia-Telangiectasisa-Like Disorder 1 PMID 10612394 1999 The DNA double-strand break repair gene hMRE11 is mutated in individuals with an ataxia-telangiectasia-like disorder.

PMID 22863007 2012 Exome capture reveals ZNF423 and CEP164 mutations, linking renal ciliopathies to DNA damage response signaling.

PMID 14690604 2003 Checkpoint failure and chromosomal instability without lymphomagenesis in Mre11(ATLD1/ATLD1) mice.

PMID 8445618 1993 A family showing no evidence of linkage between the ataxia telangiectasia gene and chromosome 11q22-23.

PMID 25040471 2015 Ataxia telangiectasia: more variation at clinical and cellular levels.

PMID 19383352 2008 Aberrations of the MRE11-RAD50-NBS1 DNA damage sensor complex in human breast cancer: MRE11 as a candidate familial cancer-predisposing gene.

PMID 29170652 2017 Characteristic Eye Movements in Ataxia-Telangiectasia-Like Disorder: An Explanatory Hypothesis.

PMID 15269180 2004 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.

PMID 11371508 2001 hMRE11: genomic structure and a null mutation identified in a transcript protected from nonsense-mediated mRNA decay.

PMID 21227757 2011 Two unrelated patients with MRE11A mutations and Nijmegen breakage syndrome-like severe microcephaly.

rs786202801 in MRE11 gene and Hereditary Breast and Ovarian Cancer Syndrome PMID 26898890 2016 Prioritizing Variants in Complete Hereditary Breast and Ovarian Cancer Genes in Patients Lacking Known BRCA Mutations.

rs137852759 in MRE11 gene and Neoplastic Syndromes, Hereditary PMID 19383352 2008 Aberrations of the MRE11-RAD50-NBS1 DNA damage sensor complex in human breast cancer: MRE11 as a candidate familial cancer-predisposing gene.

PMID 23912341 2013 Disease-associated MRE11 mutants impact ATM/ATR DNA damage signaling by distinct mechanisms.

PMID 16038621 2005 Molecular basis of ataxia telangiectasia and related diseases.

PMID 22863007 2012 Exome capture reveals ZNF423 and CEP164 mutations, linking renal ciliopathies to DNA damage response signaling.

PMID 10612394 1999 The DNA double-strand break repair gene hMRE11 is mutated in individuals with an ataxia-telangiectasia-like disorder.

PMID 23436002 2013 Clinical course of two Italian siblings with ataxia-telangiectasia-like disorder.

PMID 16858402 2006 Involvement of novel autophosphorylation sites in ATM activation.

PMID 15269180 2004 MRE11 mutations and impaired ATM-dependent responses in an Italian family with ataxia-telangiectasia-like disorder.

PMID 11371508 2001 hMRE11: genomic structure and a null mutation identified in a transcript protected from nonsense-mediated mRNA decay.

PMID 22006311 2011 Mutations in 12 genes for inherited ovarian, fallopian tube, and peritoneal carcinoma identified by massively parallel sequencing.

PMID 27329137 2016 Rare disruptive mutations and their contribution to the heritable risk of colorectal cancer.

PMID 26786923 2016 Panel Testing for Familial Breast Cancer: Calibrating the Tension Between Research and Clinical Care.

PMID 25801821 2015 Memorial Sloan Kettering-Integrated Mutation Profiling of Actionable Cancer Targets (MSK-IMPACT): A Hybridization Capture-Based Next-Generation Sequencing Clinical Assay for Solid Tumor Molecular Oncology.

PMID 26556299 2016 Germline Variants in Targeted Tumor Sequencing Using Matched Normal DNA.

PMID 28008555 2017 Male breast cancer in a multi-gene panel testing cohort: insights and unexpected results.

PMID 21227757 2011 Two unrelated patients with MRE11A mutations and Nijmegen breakage syndrome-like severe microcephaly.

PMID 26898890 2016 Prioritizing Variants in Complete Hereditary Breast and Ovarian Cancer Genes in Patients Lacking Known BRCA Mutations.

PMID 26580448 2015 Germline Mutations in Predisposition Genes in Pediatric Cancer.