Associated Papers
Precision in prediction: tailoring machine learning models for breast cancer missense variants pathogenicity prediction.
Ahmad RM et al.
Briefings in Bioinformatics, 2025
A Cell-Based Functional Assay Calibrated for Analysis of MSH6 and MSH2 Mismatch Repair Gene Variants.
Szabo E et al.
Human Mutation, 2025
Mutation characteristics of cancer susceptibility genes in Chinese ovarian cancer patients.
Wang J et al.
Frontiers in Oncology, 2024
Clinical utility of Todai OncoPanel in the setting of approved comprehensive cancer genomic profiling tests in Japan.
Kage H et al.
Cancer Science, 2023
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
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
Clinical relevance of pathogenic germline variants in mismatch repair genes in Chinese breast cancer patients.
Hu L et al.
Npj Breast Cancer, 2022
Comprehensive germline and somatic genomic profiles of Chinese patients with biliary tract cancer.
Yu H et al.
Frontiers in Oncology, 2022
Evaluation of literature searching tools for curation of mismatch repair gene variants in hereditary colon cancer.
Kaushik V et al.
Advanced Genetics (hoboken, N.j.), 2021
Massively parallel functional testing of MSH2 missense variants conferring Lynch syndrome risk.
Jia X et al.
American Journal of Human Genetics, 2021
Multigene Panel Testing for Hereditary Cancer and Genetic Counseling.
Lee ES et al.
Advances in Experimental Medicine and Biology, 2021
Expression of transgenes enriched in rare codons is enhanced by the MAPK pathway.
Peterson J et al.
Scientific Reports, 2020
Clinical and mutational profiles of adult medulloblastoma groups.
Wong GC et al.
Acta Neuropathologica Communications, 2020
Detection of Germline Mutations in Breast Cancer Patients with Clinical Features of Hereditary Cancer Syndrome Using a Multi-Gene Panel Test.
Shin HC et al.
Cancer Research and Treatment, 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
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
Germline mismatch repair gene variants analyzed by universal sequencing in Japanese cancer patients.
Kiyozumi Y et al.
Cancer Medicine, 2019
A functional assay-based procedure to classify mismatch repair gene variants in Lynch syndrome.
Drost M et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2019
International society for gastrointestinal hereditary tumours-InSiGHT.
Unknown Author
Familial Cancer, 2019
Analysis of human MutS homolog 2 missense mutations in patients with colorectal cancer.
Zhang X et al.
Oncology Letters, 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
High throughput gene sequencing reveals altered landscape in DNA damage responses and chromatin remodeling in sporadic pancreatic neuroendocrine tumors.
Ji S et al.
Pancreatology : Official Journal of the International Association of Pancreatology (iap) ... [et Al.], 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
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
Identification of Medically Actionable Secondary Findings in the 1000 Genomes.
Olfson E et al.
Plos One, 2015
A rare MSH2 mutation causes defective binding to hMSH6, normal hMSH2 staining, and loss of hMSH6 at advanced cancer stage.
Loconte DC et al.
Human Pathology, 2014
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
Prevalence of pathological germline mutations of hMLH1 and hMSH2 genes in colorectal cancer.
Li D et al.
Plos One, 2013
Classification of mismatch repair gene missense variants with PON-MMR.
Ali H et al.
Human Mutation, 2012
Novel LOVD databases for hereditary breast cancer and colorectal cancer genes in the Chinese population.
Pan M et al.
Human Mutation, 2011
Racial differences in MLH1 and MSH2 mutation: an analysis of yellow race and white race based on the InSiGHT database.
Wei W et al.
Journal of Bioinformatics and Computational Biology, 2010
Germ line MLH1 and MSH2 mutations in Taiwanese Lynch syndrome families: characterization of a founder genomic mutation in the MLH1 gene.
Tang R et al.
Clinical Genetics, 2009
Recurring MLH1 deleterious mutations in unrelated Chinese Lynch syndrome families in Singapore.
Yap HL et al.
Familial Cancer, 2009
Germline mutations and polymorphic variants in MMR, E-cadherin and MYH genes associated with familial gastric cancer in Jiangsu of China.
Zhang Y et al.
International Journal of Cancer, 2006
Variations in exon 7 of the MSH2 gene and susceptibility to gastrointestinal cancer in a Chinese population.
Fan Y et al.
Cancer Genetics and Cytogenetics, 2006
Clinical and molecular characteristics of hereditary non-polyposis colorectal cancer families in Southeast Asia.
Lee SC et al.
Clinical Genetics, 2005