Associated Papers
Deficiencies in germline DNA repair are associated with early-onset gastrointestinal cancers and inform precision prevention strategies.
Yang W et al.
Journal of Translational Medicine, 2025
Clinical and genomic features of Lynch syndrome differ by tumor site and disease spectrum.
Li S et al.
Nature Communications, 2025
Analysis of Concordance Between Next-Generation Sequencing Assessment of Microsatellite Instability and Immunohistochemistry-Mismatch Repair From Solid Tumors.
Ali-Fehmi R et al.
Jco Precision Oncology, 2024
Lynch syndrome in Mexican-Mestizo families: Genotype, phenotypes, and challenges in cascade testing among relatives at risk.
Rivero-García P et al.
Heliyon, 2024
Evolutionary origin of germline pathogenic variants in human DNA mismatch repair genes.
Lei H et al.
Human Genomics, 2024
Squamous Cell Carcinoma of the Lung With Microsatellite Instability in a Patient With Lynch Syndrome: A Case Report.
Haddad E et al.
Jto Clinical and Research Reports, 2024
Evaluation of AlphaFold structure-based protein stability prediction on missense variations in cancer.
Keskin Karakoyun H et al.
Frontiers in Genetics, 2023
Protein domains provide a new layer of information for classifying human variations in rare diseases.
Corcuff M et al.
Frontiers in Bioinformatics, 2023
Clinical Application of Comprehensive Genomic Profiling Tests for Diffuse Gliomas.
Omura T et al.
Cancers, 2022
The contribution of Lynch syndrome to early onset malignancy in Ireland.
Talbot A et al.
Bmc Cancer, 2021
Germline FFPE inherited cancer panel testing in deceased family members: implications for clinical management of unaffected relatives.
Bennett S et al.
European Journal of Human Genetics : Ejhg, 2021
Mechanisms and therapeutic implications of hypermutation in gliomas.
Touat M et al.
Nature, 2020
A Bayesian framework for efficient and accurate variant prediction.
Qian D et al.
Plos One, 2018
Mismatch repair gene mutation spectrum in the Swedish Lynch syndrome population.
Lagerstedt-Robinson K et al.
Oncology Reports, 2016
Germline MLH1 Mutations Are Frequently Identified in Lynch Syndrome Patients With Colorectal and Endometrial Carcinoma Demonstrating Isolated Loss of PMS2 Immunohistochemical Expression.
Dudley B et al.
The American Journal of Surgical Pathology, 2015
Evolution of DNA repair defects during malignant progression of low-grade gliomas after temozolomide treatment.
van Thuijl HF et al.
Acta Neuropathologica, 2015
Expression defect size among unclassified MLH1 variants determines pathogenicity in Lynch syndrome diagnosis.
Hinrichsen I et al.
Clinical Cancer Research : an Official Journal of the American Association for Cancer Research, 2013
Structure of the MutLα C-terminal domain reveals how Mlh1 contributes to Pms1 endonuclease site.
Gueneau E et al.
Nature Structural & Molecular Biology, 2013
Calibration of multiple in silico tools for predicting pathogenicity of mismatch repair gene missense substitutions.
Thompson BA et al.
Human Mutation, 2013
Functional characterization of MLH1 missense variants identified in Lynch syndrome patients.
Andersen SD et al.
Human Mutation, 2012
Missense variants in hMLH1 identified in patients from the German HNPCC consortium and functional studies.
Hardt K et al.
Familial Cancer, 2011
Verification of the three-step model in assessing the pathogenicity of mismatch repair gene variants.
Kansikas M et al.
Human Mutation, 2011
Identification of Lynch syndrome mutations in the MLH1-PMS2 interface that disturb dimerization and mismatch repair.
Kosinski J et al.
Human Mutation, 2010
A cell-free assay for the functional analysis of variants of the mismatch repair protein MLH1.
Drost M et al.
Human Mutation, 2010
Functional analysis of human MLH1 variants using yeast and in vitro mismatch repair assays.
Takahashi M et al.
Cancer Research, 2007
Functional significance and clinical phenotype of nontruncating mismatch repair variants of MLH1.
Raevaara TE et al.
Gastroenterology, 2005