Associated Papers
Pathogenic variation in human DNA damage repair genes was originated from the evolutionary process of modern humans.
Li J et al.
Genes & Diseases, 2026
Comparative Analysis of a Dual DNA-RNA Panel and a DNA-Only Panel for Sarcoma: Real-World Data From a Nationwide Genomic Database.
Nakata E et al.
Cancer Science, 2026
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
Pathogenic variants in human DNA damage repair genes mostly arose in recent human history.
Zhao B et al.
Bmc Cancer, 2024
Evolutionary origin of germline pathogenic variants in human DNA mismatch repair genes.
Lei H et al.
Human Genomics, 2024
Pathogenic variants in human DNA damage repair genes mostly arose after the latest human out-of-Africa migration.
He J et al.
Frontiers in Genetics, 2024
Protein domains provide a new layer of information for classifying human variations in rare diseases.
Corcuff M et al.
Frontiers in Bioinformatics, 2023
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
Comprehensive characterization of CRC with germline mutations reveals a distinct somatic mutational landscape and elevated cancer risk in the Chinese population.
Yao J et al.
Cancer Biology & Medicine, 2022
Massively parallel functional testing of MSH2 missense variants conferring Lynch syndrome risk.
Jia X et al.
American Journal of Human Genetics, 2021
Differential genomic destabilisation in human cells with pathogenic MSH2 mutations introduced by genome editing.
Hayashida G et al.
Experimental Cell Research, 2019
Germline MLH1, MSH2 and MSH6 variants in Brazilian patients with colorectal cancer and clinical features suggestive of Lynch Syndrome.
Schneider NB et al.
Cancer Medicine, 2018
A Bayesian framework for efficient and accurate variant prediction.
Qian D et al.
Plos One, 2018
Mouse models of DNA mismatch repair in cancer research.
Lee K et al.
Dna Repair, 2016
Malignant fibrous histiocytoma is a rare Lynch syndrome-associated tumor in two German families.
Brieger A et al.
Familial Cancer, 2011
An Msh2 conditional knockout mouse for studying intestinal cancer and testing anticancer agents.
Kucherlapati MH et al.
Gastroenterology, 2010
Mechanisms of pathogenicity in human MSH2 missense mutants.
Ollila S et al.
Human Mutation, 2008
Functional characterization of pathogenic human MSH2 missense mutations in Saccharomyces cerevisiae.
Gammie AE et al.
Genetics, 2007
Characterization of pathogenic human MSH2 missense mutations using yeast as a model system: a laboratory course in molecular biology.
Gammie AE et al.
Cell Biology Education, 2004
Bethesda guidelines: relation to microsatellite instability and MLH1 promoter methylation in patients with colorectal cancer.
Raedle J et al.
Annals of Internal Medicine, 2001