Associated Papers
Genotyping and molecular dynamic simulations reveal the role of MSH2 DNA repair polymorphisms in lung cancer risk.
Singh S et al.
Journal of Biomolecular Structure & Dynamics, 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
Scalable approaches for generating, validating and incorporating data from high-throughput functional assays to improve clinical variant classification.
Padigepati SR et al.
Human Genetics, 2024
Lynch Syndrome: From Multidisciplinary Management to Precision Prevention.
Dal Buono A et al.
Cancers, 2024
Evolutionary origin of germline pathogenic variants in human DNA mismatch repair genes.
Lei H et al.
Human Genomics, 2024
Integration of deep learning with Ramachandran plot molecular dynamics simulation for genetic variant classification.
Tam B et al.
Iscience, 2023
Protein domains provide a new layer of information for classifying human variations in rare diseases.
Corcuff M et al.
Frontiers in Bioinformatics, 2023
Identification of SNPs in hMSH3/MSH6 interaction domain affecting the structure and function of MSH2 protein.
Singh S et al.
Biotechnology and Applied Biochemistry, 2022
Genetic polymorphisms in the mismatch repair pathway (MMR) genes contribute to hematological and gastrointestinal toxicity in North Indian lung cancer patients treated with platinum-based chemotherapy.
Singh S et al.
Journal of Biochemical and Molecular Toxicology, 2022
Whole-exome Sequencing of Nigerian Prostate Tumors from the Prostate Cancer Transatlantic Consortium (CaPTC) Reveals DNA Repair Genes Associated with African Ancestry.
White JA et al.
Cancer Research Communications, 2022
Prevalence and spectrum of DNA mismatch repair gene variation in the general Chinese population.
Zhang L et al.
Journal of Medical Genetics, 2022
Massively parallel functional testing of MSH2 missense variants conferring Lynch syndrome risk.
Jia X et al.
American Journal of Human Genetics, 2021
Mutation Edgotype Drives Fitness Effect in Human.
Ghadie M et al.
Frontiers in Bioinformatics, 2021
Novel Genetic Markers for Early Detection of Elevated Breast Cancer Risk in Women.
Wu B et al.
International Journal of Molecular Sciences, 2019
Estimating dispensable content in the human interactome.
Ghadie M et al.
Nature Communications, 2019
Assessing the Pathogenicity, Penetrance, and Expressivity of Putative Disease-Causing Variants in a Population Setting.
Wright CF et al.
American Journal of Human Genetics, 2019
A Bayesian framework for efficient and accurate variant prediction.
Qian D et al.
Plos One, 2018
Muir-Torre Syndrome and founder mismatch repair gene mutations: A long gone historical genetic challenge.
Ponti G et al.
Gene, 2016
Oligonucleotide-directed mutagenesis screen to identify pathogenic Lynch syndrome-associated MSH2 DNA mismatch repair gene variants.
Houlleberghs H et al.
Proceedings of the National Academy of Sciences of the United States of America, 2016
Mismatch repair genes founder mutations and cancer susceptibility in Lynch syndrome.
Ponti G et al.
Clinical Genetics, 2015
Single nucleotide polymorphisms of DNA mismatch repair genes MSH2 and MLH1 confer susceptibility to esophageal cancer.
Sun MZ et al.
International Journal of Clinical and Experimental Medicine, 2014
Mutation spectrum in South American Lynch syndrome families.
Dominguez-Valentin M et al.
Hereditary Cancer in Clinical Practice, 2013
Genetic screens to identify pathogenic gene variants in the common cancer predisposition Lynch syndrome.
Drost M et al.
Proceedings of the National Academy of Sciences of the United States of America, 2013
The hMSH2(M688R) Lynch syndrome mutation may function as a dominant negative.
Martín-López JV et al.
Carcinogenesis, 2012
Classification of mismatch repair gene missense variants with PON-MMR.
Ali H et al.
Human Mutation, 2012
Esophageal cancer risk is associated with polymorphisms of DNA repair genes MSH2 and WRN in Chinese population.
Li T et al.
Journal of Thoracic Oncology : Official Publication of the International Association for the Study of Lung Cancer, 2012
Adrenocortical carcinoma, an unusual extracolonic tumor associated with Lynch II syndrome.
Medina-Arana V et al.
Familial Cancer, 2011
Integrated analysis of unclassified variants in mismatch repair genes.
Pastrello C et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2011
Detection of genetic alterations in hereditary colorectal cancer screening.
Pineda M et al.
Mutation Research, 2010
Genealogical tree study as screening method in the Lynch syndrome prior to genetic test.
Delgado-Plasencia L et al.
American Journal of Clinical Oncology, 2010
Founder effect of a pathogenic MSH2 mutation identified in Spanish families with Lynch syndrome.
Menéndez M et al.
Clinical Genetics, 2010
New founding mutation in MSH2 associated with hereditary nonpolyposis colorectal cancer syndrome on the Island of Tenerife.
Medina-Arana V et al.
Cancer Letters, 2006