Associated Papers
The association of blood ctDNA levels to mutations of marker genes in colorectal cancer.
Bai F et al.
Cancer Reports (hoboken, N.j.), 2023
Multilocus Inherited Neoplasia Allele Syndrome (MINAS): an update.
McGuigan A et al.
European Journal of Human Genetics : Ejhg, 2022
34983940 (PubMed )
Supplement: 41431_2021_1013_MOESM1_ESM.pdf
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
Functional interrogation of Lynch syndrome-associated MSH2 missense variants via CRISPR-Cas9 gene editing in human embryonic stem cells.
Rath A et al.
Human Mutation, 2019
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
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
Functional analysis of HNPCC-related missense mutations in MSH2.
Lützen A et al.
Mutation Research, 2008
Functional characterization of pathogenic human MSH2 missense mutations in Saccharomyces cerevisiae.
Gammie AE et al.
Genetics, 2007
Characterization of pathogenic human MSH2 missense mutations using yeast as a model system: a laboratory course in molecular biology.
Gammie AE et al.
Cell Biology Education, 2004
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