Associated Papers
Molecular Mosaics: Unveiling Heterogeneity in Synchronous Colorectal Cancers.
Lee HG et al.
Cancer Research and Treatment, 2026
39973140 (PubMed )
Supplement: crt-2024-947_S6_Table.pdf
Scalable approaches for generating, validating and incorporating data from high-throughput functional assays to improve clinical variant classification.
Padigepati SR et al.
Human Genetics, 2024
39085601 (PubMed )
Supplement: 439_2024_2691_MOESM2_ESM.xlsx › MSH2
Massively parallel functional testing of MSH2 missense variants conferring Lynch syndrome risk.
Jia X et al.
American Journal of Human Genetics, 2021
33357406 (PubMed )
Supplement: mmc2.xlsx › TableS4_ValidationSet
Methylation Tolerance-Based Functional Assay to Assess Variants of Unknown Significance in the MLH1 and MSH2 Genes and Identify Patients With Lynch Syndrome.
Bouvet D et al.
Gastroenterology, 2019
Oligonucleotide-directed mutagenesis screen to identify pathogenic Lynch syndrome-associated MSH2 DNA mismatch repair gene variants.
Houlleberghs H et al.
Proceedings of the National Academy of Sciences of the United States of America, 2016
Classification of Amino Acid Substitutions in Mismatch Repair Proteins Using PON-MMR2.
Niroula A et al.
Human Mutation, 2015
26333163 (PubMed )
Supplement: supplement_1.pdf
Potentially functional SNPs (pfSNPs) as novel genomic predictors of 5-FU response in metastatic colorectal cancer patients.
Wang J et al.
Plos One, 2014
25372392 (PubMed )
Supplement: pone.0111694.s006.pdf
Calibration of multiple in silico tools for predicting pathogenicity of mismatch repair gene missense substitutions.
Thompson BA et al.
Human Mutation, 2013
Integrative analysis of hereditary nonpolyposis colorectal cancer: the contribution of allele-specific expression and other assays to diagnostic algorithms.
De Lellis L et al.
Plos One, 2013
Classification of mismatch repair gene missense variants with PON-MMR.
Ali H et al.
Human Mutation, 2012
Identification of predictive factors for the occurrence of predisposing MLH1 and MSH2 germline mutations among Sardinian patients with colorectal carcinoma.
Colombino M et al.
European Journal of Cancer (oxford, England : 1990), 2005
Microsatellite instability and mutation analysis among southern Italian patients with colorectal carcinoma: detection of different alterations accounting for MLH1 and MSH2 inactivation in familial cases.
Colombino M et al.
Annals of Oncology : Official Journal of the European Society for Medical Oncology, 2003
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