Associated Papers
Lynch syndrome association and clinicopathological features in early-onset colorectal cancers: A single-center retrospective study.
Sür Y et al.
World Journal of Clinical Oncology, 2025
The ubiquitin ligase UBR4 and the deubiquitylase USP5 modulate the stability of DNA mismatch repair protein MLH1.
Mao C et al.
The Journal of Biological Chemistry, 2024
All exons are not created equal-exon vulnerability determines the effect of exonic mutations on splicing.
Holm LL et al.
Nucleic Acids Research, 2024
Prevalence and spectrum of DNA mismatch repair gene variation in the general Chinese population.
Zhang L et al.
Journal of Medical Genetics, 2022
Prospective Statewide Study of Universal Screening for Hereditary Colorectal Cancer: The Ohio Colorectal Cancer Prevention Initiative.
Pearlman R et al.
Jco Precision Oncology, 2021
Identification of New Tumor-Related Gene Mutations in Chinese Gastrointestinal Stromal Tumors.
Feng Y et al.
Frontiers in Cell and Developmental Biology, 2021
Cancer Variant Interpretation Group UK (CanVIG-UK): an exemplar national subspecialty multidisciplinary network.
Garrett A et al.
Journal of Medical Genetics, 2020
Germline Profiling and Molecular Characterization of Early Onset Metastatic Colorectal Cancer.
Xu T et al.
Frontiers in Oncology, 2020
A Bayesian framework for efficient and accurate variant prediction.
Qian D et al.
Plos One, 2018
Prognostic impact of mismatch repair genes germline defects in colorectal cancer patients: are all mutations equal?
Maccaroni E et al.
Oncotarget, 2015
Expression defect size among unclassified MLH1 variants determines pathogenicity in Lynch syndrome diagnosis.
Hinrichsen I et al.
Clinical Cancer Research : an Official Journal of the American Association for Cancer Research, 2013
Structure of the MutLα C-terminal domain reveals how Mlh1 contributes to Pms1 endonuclease site.
Gueneau E et al.
Nature Structural & Molecular Biology, 2013
Calibration of multiple in silico tools for predicting pathogenicity of mismatch repair gene missense substitutions.
Thompson BA et al.
Human Mutation, 2013
Classification of mismatch repair gene missense variants with PON-MMR.
Ali H et al.
Human Mutation, 2012
Influence of eight unclassified missense variants of the MLH1 gene on Lynch syndrome susceptibility.
Fan Y et al.
Biochemical Genetics, 2012
Identification of Lynch syndrome mutations in the MLH1-PMS2 interface that disturb dimerization and mismatch repair.
Kosinski J et al.
Human Mutation, 2010
Assessing the pathogenicity of MLH1 missense mutations in patients with suspected hereditary nonpolyposis colorectal cancer: correlation with clinical, genetic and functional features.
Belvederesi L et al.
European Journal of Human Genetics : Ejhg, 2006