Associated Papers
Analysis of germline-somatic mutational connections in colorectal cancer reveals differential tumorigenic patterns and a novel predictive marker for germline mutation carriers.
Li M et al.
Cancer Letters, 2025
Coexisting germline variants of MLH1 and MSH6 in a patient with Lynch syndrome who had uterine and ovarian cancer.
Umegaki S et al.
International Cancer Conference Journal, 2025
Disentangling the mutational effects on protein stability and interaction of human MLH1.
Larsen-Ledet S et al.
Plos Genetics, 2025
The genetic landscape of Lynch syndrome in the Israeli population.
Abu Shtaya A et al.
Familial Cancer, 2024
Evolutionary origin of germline pathogenic variants in human DNA mismatch repair genes.
Lei H et al.
Human Genomics, 2024
Understanding the Genetic Landscape of Pancreatic Ductal Adenocarcinoma to Support Personalized Medicine: A Systematic Review.
Pantaleo A et al.
Cancers, 2023
Liquid Biopsy of Cerebrospinal Fluid Enables Selective Profiling of Glioma Molecular Subtypes at First Clinical Presentation.
Orzan F et al.
Clinical Cancer Research : an Official Journal of the American Association for Cancer Research, 2023
Systematic review of reported association studies of monogenic genes and bladder cancer risk and confirmation analysis in a large population cohort.
Mian A et al.
Bjui Compass, 2023
Prevalence and spectrum of DNA mismatch repair gene variation in the general Chinese population.
Zhang L et al.
Journal of Medical Genetics, 2022
Retained mismatch repair protein expression occurs in approximately 6% of microsatellite instability-high cancers and is associated with missense mutations in mismatch repair genes.
Hechtman JF et al.
Modern Pathology : an Official Journal of the United States and Canadian Academy of Pathology, Inc, 2020
Phosphorylation-dependent signaling controls degradation of DNA mismatch repair protein PMS2.
Hinrichsen I et al.
Molecular Carcinogenesis, 2017
Identification of Lynch syndrome mutations in the MLH1-PMS2 interface that disturb dimerization and mismatch repair.
Kosinski J et al.
Human Mutation, 2010
Comprehensive molecular analysis of mismatch repair gene defects in suspected Lynch syndrome (hereditary nonpolyposis colorectal cancer) cases.
Mueller J et al.
Cancer Research, 2009
Truncation of the C-terminus of human MLH1 blocks intracellular stabilization of PMS2 and disrupts DNA mismatch repair.
Mohd AB et al.
Dna Repair, 2006
Gene symbol: hMSH2. Disease: hereditary nonpolyposis colorectal cancer.
Otway R et al.
Human Genetics, 2005
Gene symbol: MLH1. Disease: Hereditary nonpolyposis colorectal cancer.
Otway R et al.
Human Genetics, 2005
Gene symbol: MLH1. Disease: Hereditary nonpolyposis colorectal cancer.
Otway R et al.
Human Genetics, 2005
Gene symbol: MSH2. Disease: Hereditary nonpolyposis colorectal cancer.
Otway R et al.
Human Genetics, 2005
Gene symbol: MSH2. Disease: Hereditary nonpolyposis colorectal cancer.
Otway R et al.
Human Genetics, 2005
Gene symbol: MSH2. Disease: Hereditary nonpolyposis colorectal cancer.
Otway R et al.
Human Genetics, 2005
Gene symbol: MSH2. Disease: Hereditary nonpolyposis colorectal cancer.
Otway R et al.
Human Genetics, 2005
Gene symbol: MSH2. Disease: Hereditary nonpolyposis colorectal cancer.
Otway R et al.
Human Genetics, 2005
Evaluation of enzymatic mutation detectiontrade mark in hereditary nonpolyposis colorectal cancer.
Otway R et al.
Human Mutation, 2000
Interpretation of genetic test results for hereditary nonpolyposis colorectal cancer: implications for clinical predisposition testing.
Syngal S et al.
Jama, 1999
RNA-based mutation screening in hereditary nonpolyposis colorectal cancer.
Kohonen-Corish M et al.
American Journal of Human Genetics, 1996