Associated Papers
In Silico Characterization of Pathogenic ESR2 Coding and UTR Variants as Oncogenic Potential Biomarkers in Hormone-Dependent Cancers.
Al-Nakhle H et al.
Genes, 2025
An MSH6 germline pathogenic variant p.Gly162Ter associated with Lynch syndrome.
Vostrukhina OA et al.
Human Genome Variation, 2022
A survey of the clinicopathological and molecular characteristics of patients with suspected Lynch syndrome in Latin America.
Rossi BM et al.
Bmc Cancer, 2017
MSH2 role in BRCA1-driven tumorigenesis: A preliminary study in yeast and in human tumors from BRCA1-VUS carriers.
Maresca L et al.
European Journal of Medical Genetics, 2015
A multifactorial likelihood model for MMR gene variant classification incorporating probabilities based on sequence bioinformatics and tumor characteristics: a report from the Colon Cancer Family Registry.
Thompson BA et al.
Human Mutation, 2013
MSH2 missense mutations and HNPCC syndrome: pathogenicity assessment in a human expression system.
Belvederesi L et al.
Human Mutation, 2008
Mechanisms of pathogenicity in human MSH2 missense mutants.
Ollila S et al.
Human Mutation, 2008
Pathogenicity of MSH2 missense mutations is typically associated with impaired repair capability of the mutated protein.
Ollila S et al.
Gastroenterology, 2006
Select a paper to view details