Varaico: Literature-Extracted Genetic Variants

Gene:MRE11
Variant:p.R633*
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MRE11

NM_005591.4:p.R633*

Associated Papers

Pathogenic variation in human DNA damage repair genes was originated from the evolutionary process of modern humans.

Li J et al.

Genes & Diseases, 2026

41624906 (PubMed )
Supplement: mmc1.xlsx › Sheet1

Differential expression of a disease-associated MRE11 variant reveals distinct phenotypic outcomes.

DeFoer MB et al.

Human Molecular Genetics, 2025

Differential expression of a disease-associated MRE11 variant reveals distinct phenotypic outcomes.

DeFoer MB et al.

Biorxiv : the Preprint Server for Biology, 2025

Prevalence and clinical relavance of germline mutations in Chinese patients with pancreatic cancer.

Jiang Y et al.

Cell Communication and Signaling : Ccs, 2025

40544258 (PubMed )
Supplement: 12964_2025_2281_MOESM1_ESM.xlsx › RJ.P_LP.germline.final

Risk of lymphoid malignancy associated with cancer predisposition genes.

Boddicker NJ et al.

Blood Cancer Journal, 2025

40253392 (PubMed )
Supplement: 41408_2025_1283_MOESM1_ESM.xlsx › Table_S15

The MRE11-RAD50-NBS1 complex both starts and extends DNA end resection in mouse meiosis.

Kim S et al.

Biorxiv : the Preprint Server for Biology, 2024

Pathogenic variants in human DNA damage repair genes mostly arose in recent human history.

Zhao B et al.

Bmc Cancer, 2024

38575974 (PubMed )
Supplement: 12885_2024_12160_MOESM6_ESM.xlsx › Sheet1

Germline Mutations in 32 Cancer Susceptibility Genes by Next-Generation Sequencing among Breast Cancer Patients.

Yang Y et al.

Oncology, 2024

Pathogenic variants in human DNA damage repair genes mostly arose after the latest human out-of-Africa migration.

He J et al.

Frontiers in Genetics, 2024

38948361 (PubMed )
Supplement: Table1.XLSX › Sheet1

Clinical Utility of Optical Genome Mapping and 523-Gene Next Generation Sequencing Panel for Comprehensive Evaluation of Myeloid Cancers.

Sahajpal NS et al.

Cancers, 2023

37370824 (PubMed )
Supplement: cancers-15-03214-s001.zip › cancers-2363777-supplementary.xlsx › File_S3

An in-silico analysis to identify structural, functional and regulatory role of SNPs in hMRE11.

Tarapara B et al.

Journal of Biomolecular Structure & Dynamics, 2023

Cervical dystonia and no oculomotor apraxia as new manifestation of ataxia-telangiectasia-like disorder 1 - case report and review of the literature.

Bajek A et al.

Frontiers in Neurology, 2023

Germline Variants in 32 Cancer-Related Genes among 700 Chinese Breast Cancer Patients by Next-Generation Sequencing: A Clinic-Based, Observational Study.

Yang L et al.

International Journal of Molecular Sciences, 2022

Distinct landscapes of deleterious variants in DNA damage repair system in ethnic human populations.

Qin Z et al.

Life Science Alliance, 2022

35595529 (PubMed )
Supplement: LSA-2021-01319_TableS1.xlsx › Sheet_1

Untangling the clinicopathological significance of MRE11-RAD50-NBS1 complex in sporadic breast cancers.

Alblihy A et al.

Npj Breast Cancer, 2021

MRN Complex and Cancer Risk: Old Bottles, New Wine.

Elkholi IE et al.

Clinical Cancer Research : an Official Journal of the American Association for Cancer Research, 2021

Investigating the causal role of MRE11A p.E506* in breast and ovarian cancer.

Elkholi IE et al.

Scientific Reports, 2021

Characteristics of Germline Non-BRCA Mutation Status of High-Risk Breast Cancer Patients in China and Correlation with High-Risk Factors and Multigene Testing Suggestions.

Su Y et al.

Frontiers in Genetics, 2021

Three new cases of ataxia-telangiectasia-like disorder: No impairment of the ATM pathway, but S-phase checkpoint defect.

Fiévet A et al.

Human Mutation, 2019

Ataxia-telangiectasia-like disorder in a family deficient for MRE11A, caused by a MRE11 variant.

Sedghi M et al.

Neurology. Genetics, 2018

Reversible mislocalization of a disease-associated MRE11 splice variant product.

Hartlerode AJ et al.

Scientific Reports, 2018

Association of DNA repair genes polymorphisms and mutations with increased risk of head and neck cancer: a review.

Dylawerska A et al.

Medical Oncology (northwood, London, England), 2017

Ataxia telangiectasia: more variation at clinical and cellular levels.

Taylor AM et al.

Clinical Genetics, 2015

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.

Damiola F et al.

Breast Cancer Research : Bcr, 2014

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

Regal JA et al.

Human Molecular Genetics, 2013

The MRN protein complex genes: MRE11 and RAD50 and susceptibility to head and neck cancers.

Ziółkowska-Suchanek I et al.

Molecular Cancer, 2013

PhenoHM: human-mouse comparative phenome-genome server.

Sardana D et al.

Nucleic Acids Research, 2010

20507906 (PubMed )
Supplement: gkq472_nar-00429-web-b-2010-File006.xls › MPO_to_OMIM_allelic_Variants

Discovering moderate-risk breast cancer susceptibility genes.

Hollestelle A et al.

Current Opinion in Genetics & Development, 2010

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

Bartkova J et al.

Molecular Oncology, 2008

A regulatory role for NBS1 in strand-specific mutagenesis during somatic hypermutation.

Du L et al.

Plos One, 2008

Molecular basis of ataxia telangiectasia and related diseases.

Ball LG et al.

Acta Pharmacologica Sinica, 2005

The Mre11 complex and ATM: a two-way functional interaction in recognising and signaling DNA double strand breaks.

Lavin MF

Dna Repair, 2004

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

Delia D et al.

Human Molecular Genetics, 2004

Ataxia-telangiectasia-like disorder (ATLD)-its clinical presentation and molecular basis.

Taylor AM et al.

Dna Repair, 0

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."