Associated Papers
Bridging data gaps: Methodological advances in extracting and analyzing genetic information from unstructured clinical records in hereditary cancer.
Cardona DS et al.
Cancer Epidemiology, 2025
Disruption of protein-protein interaction hotspots in the C-terminal domain of MLH1 confers mismatch repair deficiency.
Fishwick KM et al.
Nar Cancer, 2025
VarMeter2: An enhanced structure-based method for predicting pathogenic missense variants through Mahalanobis distance.
Ohno S et al.
Computational and Structural Biotechnology Journal, 2025
A novel lynch syndrome kindred with hereditary adrenal cortical carcinoma.
Ahuja K et al.
Cancer Genetics, 2024
Current prospects of hereditary adrenal tumors: towards better clinical management.
Ohmoto A et al.
Hereditary Cancer in Clinical Practice, 2024
Evolutionary origin of germline pathogenic variants in human DNA mismatch repair genes.
Lei H et al.
Human Genomics, 2024
Protein domains provide a new layer of information for classifying human variations in rare diseases.
Corcuff M et al.
Frontiers in Bioinformatics, 2023
Mutation Edgotype Drives Fitness Effect in Human.
Ghadie M et al.
Frontiers in Bioinformatics, 2021
Detection of DNA mismatch repair deficient crypts in random colonoscopic biopsies identifies Lynch syndrome patients.
Brand RE et al.
Familial Cancer, 2020
Development, technical validation, and clinical application of a multigene panel for hereditary gastrointestinal cancer and polyposis.
Ricci MT et al.
Tumori, 2019
Estimating dispensable content in the human interactome.
Ghadie M et al.
Nature Communications, 2019
A Bayesian framework for efficient and accurate variant prediction.
Qian D et al.
Plos One, 2018
Phosphorylation-dependent signaling controls degradation of DNA mismatch repair protein PMS2.
Hinrichsen I et al.
Molecular Carcinogenesis, 2017
Germline Mutations in MLH1 Leading to Isolated Loss of PMS2 Expression in Lynch Syndrome: Implications for Diagnostics in the Clinic.
Silva FCC et al.
The American Journal of Surgical Pathology, 2017
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
Molecular Features and Methylation Status in Early Onset (≤40 Years) Colorectal Cancer: A Population Based, Case-Control Study.
Magnani G et al.
Gastroenterology Research and Practice, 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
Comprehensive functional assessment of MLH1 variants of unknown significance.
Borràs E et al.
Human Mutation, 2012
Classification of mismatch repair gene missense variants with PON-MMR.
Ali H et al.
Human Mutation, 2012
Molecular analysis of Fanconi anemia and mismatch repair genes in patients with colorectal carcinoma.
Colombino M et al.
Oncology Reports, 2011
A novel and rapid method of determining the effect of unclassified MLH1 genetic variants on differential allelic expression.
Perera S et al.
The Journal of Molecular Diagnostics : Jmd, 2010
Identification of Lynch syndrome mutations in the MLH1-PMS2 interface that disturb dimerization and mismatch repair.
Kosinski J et al.
Human Mutation, 2010
The MLH1 variants p.Arg265Cys and p.Lys618Ala affect protein stability while p.Leu749Gln affects heterodimer formation.
Perera S et al.
Human Mutation, 2008
The use of microsatellite instability, immunohistochemistry and other variables in determining the clinical significance of MLH1 and MSH2 unclassified variants in Lynch syndrome.
Lucci-Cordisco E et al.
Cancer Biomarkers : Section a of Disease Markers, 2006
Microsatellite instability and mutation analysis among southern Italian patients with colorectal carcinoma: detection of different alterations accounting for MLH1 and MSH2 inactivation in familial cases.
Colombino M et al.
Annals of Oncology : Official Journal of the European Society for Medical Oncology, 2003