Associated Papers
MSH3 is a genetic modifier of somatic repeat instability in X-linked dystonia parkinsonism.
Mejia Maza A et al.
American Journal of Human Genetics, 2026
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 Cell-Based Functional Assay Calibrated for Analysis of MSH6 and MSH2 Mismatch Repair Gene Variants.
Szabo E et al.
Human Mutation, 2025
Somatic mutations that affect early genetic progression and immune microenvironment in gastric carcinoma.
Li X et al.
Pathology, Research and Practice, 2024
Characteristics of germline DNA damage response gene mutations in ovarian cancer in Southwest China.
Fu K et al.
Scientific Reports, 2024
The evolutionary impact of childhood cancer on the human gene pool.
Stoltze UK et al.
Nature Communications, 2024
Mutation characteristics of cancer susceptibility genes in Chinese ovarian cancer patients.
Wang J et al.
Frontiers in Oncology, 2024
Integration of deep learning with Ramachandran plot molecular dynamics simulation for genetic variant classification.
Tam B et al.
Iscience, 2023
Evaluation of AlphaFold structure-based protein stability prediction on missense variations in cancer.
Keskin Karakoyun H et al.
Frontiers in Genetics, 2023
BAT26 Only Microsatellite Instability with High Tumor Mutation Burden-A Rare Entity Associated with PTEN Protein Loss and High PD-L1 Expression.
Kang SY et al.
International Journal of Molecular Sciences, 2022
Prevalence and spectrum of DNA mismatch repair gene variation in the general Chinese population.
Zhang L et al.
Journal of Medical Genetics, 2022
Comprehensive germline and somatic genomic profiles of Chinese patients with biliary tract cancer.
Yu H et al.
Frontiers in Oncology, 2022
Prevalence of cancer susceptibility variants in patients with multiple Lynch syndrome related cancers.
Choi YY et al.
Scientific Reports, 2021
A novel germline mutation in hMLH1 in three Korean women with endometrial cancer in a family of Lynch syndrome: case report and literature review.
Jung YJ et al.
Hereditary Cancer in Clinical Practice, 2021
Massively parallel functional testing of MSH2 missense variants conferring Lynch syndrome risk.
Jia X et al.
American Journal of Human Genetics, 2021
DNA Mismatch Repair Gene Variants in Sporadic Solid Cancers.
Caja F et al.
International Journal of Molecular Sciences, 2020
Variants of DNA mismatch repair genes derived from 33,998 Chinese individuals with and without cancer reveal their highly ethnic-specific nature.
Zhang L et al.
European Journal of Cancer (oxford, England : 1990), 2020
Somatic mutation profiling in BRCA-negative breast and ovarian cancer patients by multigene panel sequencing.
Kwong A et al.
American Journal of Cancer Research, 2020
TAPES: A tool for assessment and prioritisation in exome studies.
Xavier A et al.
Plos Computational Biology, 2019
Novel Genetic Markers for Early Detection of Elevated Breast Cancer Risk in Women.
Wu B et al.
International Journal of Molecular Sciences, 2019
Toward automation of germline variant curation in clinical cancer genetics.
Ravichandran V et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2019
Feeding difficulty is the dominant feature in 12 Chinese newborns with CHD7 pathogenic variants.
Chen X et al.
Bmc Medical Genetics, 2019
CharGer: clinical Characterization of Germline variants.
Scott AD et al.
Bioinformatics (oxford, England), 2019
Germline Pathogenic Variants in Homologous Recombination and DNA Repair Genes in an Asian Cohort of Young-Onset Colorectal Cancer.
Toh MR et al.
Jnci Cancer Spectrum, 2018
SMAD4 and NF1 mutations as potential biomarkers for poor prognosis to cetuximab-based therapy in Chinese metastatic colorectal cancer patients.
Mei Z et al.
Bmc Cancer, 2018
Targeted next generation sequencing identified clinically actionable mutations in patients with esophageal sarcomatoid carcinoma.
Lu H et al.
Bmc Cancer, 2018
A Bayesian framework for efficient and accurate variant prediction.
Qian D et al.
Plos One, 2018
Findings of a 1303 Korean whole-exome sequencing study.
Kwak SH et al.
Experimental & Molecular Medicine, 2017
Genetic Analysis of Mismatch Repair Genes Alterations in Extramammary Paget Disease.
Kang Z et al.
The American Journal of Surgical Pathology, 2016
Identification of Medically Actionable Secondary Findings in the 1000 Genomes.
Olfson E et al.
Plos One, 2015
Challenges in assessing pathogenicity based on frequency of variants in mismatch repair genes: an extreme case of a MSH2 variant and a meta-analysis.
Woo HI et al.
Gene, 2014
Integrated mRNA and microRNA transcriptome sequencing characterizes sequence variants and mRNA-microRNA regulatory network in nasopharyngeal carcinoma model systems.
Szeto CY et al.
Febs Open Bio, 2014
One case of endometrial cancer occurrence: Over 10 years after colon cancer in Lynch family.
Lee JY et al.
Obstetrics & Gynecology Science, 2013
Missense mutations of MLH1 and MSH2 genes detected in patients with gastrointestinal cancer are associated with exonic splicing enhancers and silencers.
Zhu M et al.
Oncology Letters, 2013
Calibration of multiple in silico tools for predicting pathogenicity of mismatch repair gene missense substitutions.
Thompson BA et al.
Human Mutation, 2013
Prevalence of pathological germline mutations of hMLH1 and hMSH2 genes in colorectal cancer.
Li D et al.
Plos One, 2013