Associated Papers
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
DNA Mismatch Repair Gene Variant Classification: Evaluating the Utility of Somatic Mutations and Mismatch Repair Deficient Colonic Crypts and Endometrial Glands.
Walker R et al.
Cancers, 2023
Biallelic PMS2 Mutations in a Family with Uncommon Clinical and Molecular Features.
Pedroni M et al.
Genes, 2022
Prevalence and spectrum of DNA mismatch repair gene variation in the general Chinese population.
Zhang L et al.
Journal of Medical Genetics, 2022
Mismatch repair deficiency in early-onset duodenal, ampullary, and pancreatic carcinomas is a strong indicator for a hereditary defect.
Kryklyva V et al.
The Journal of Pathology. Clinical Research, 2022
The contribution of Lynch syndrome to early onset malignancy in Ireland.
Talbot A et al.
Bmc Cancer, 2021
No Overt Clinical Immunodeficiency Despite Immune Biological Abnormalities in Patients With Constitutional Mismatch Repair Deficiency.
Tesch VK et al.
Frontiers in Immunology, 2018
Classification of Amino Acid Substitutions in Mismatch Repair Proteins Using PON-MMR2.
Niroula A et al.
Human Mutation, 2015
Mismatch repair genes founder mutations and cancer susceptibility in Lynch syndrome.
Ponti G et al.
Clinical Genetics, 2015
Inactivation of DNA mismatch repair by variants of uncertain significance in the PMS2 gene.
Drost M et al.
Human Mutation, 2013
Refining the role of PMS2 in Lynch syndrome: germline mutational analysis improved by comprehensive assessment of variants.
Borràs E et al.
Journal of Medical Genetics, 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
Recurrent and founder mutations in the PMS2 gene.
Tomsic J et al.
Clinical Genetics, 2013
Classification of mismatch repair gene missense variants with PON-MMR.
Ali H et al.
Human Mutation, 2012
The clinical phenotype of Lynch syndrome due to germ-line PMS2 mutations.
Senter L et al.
Gastroenterology, 2008
Analysis of hMLH1 missense mutations in East Asian patients with suspected hereditary nonpolyposis colorectal cancer.
Fan Y et al.
Clinical Cancer Research : an Official Journal of the American Association for Cancer Research, 2007
Mismatch repair gene PMS2: disease-causing germline mutations are frequent in patients whose tumors stain negative for PMS2 protein, but paralogous genes obscure mutation detection and interpretation.
Nakagawa H et al.
Cancer Research, 2004