Associated Papers
Variant reclassification in cancer susceptibility genes and an updated variant spectrum of Turkish breast and colorectal cancer patients.
Can ND et al.
Human Genomics, 2026
41656315 (PubMed )
Supplement: 40246_2026_915_MOESM4_ESM.xlsx › Sayfa1
Disentangling the mutational effects on protein stability and interaction of human MLH1.
Larsen-Ledet S et al.
Plos Genetics, 2025
40294053 (PubMed )
Supplement: pgen.1011681.s018.xlsx › ClinVar_gnomAD_data
Mutations in Mismatch Repair Genes and Microsatellite Instability Status in Pancreatic Cancer.
Emelyanova M et al.
Cancers, 2024
38893230 (PubMed )
Supplement: cancers-16-02111-s001.zip › Supplementary_Table_S1_31052024.pdf
Whole genome and transcriptome integrated analyses guide clinical care of pediatric poor prognosis cancers.
Deyell RJ et al.
Nature Communications, 2024
38755180 (PubMed )
Supplement: 41467_2024_48363_MOESM7_ESM.xlsx › Figure_2A__right_
Contribution of mRNA Splicing to Mismatch Repair Gene Sequence Variant Interpretation.
Thompson BA et al.
Frontiers in Genetics, 2020
32849802 (PubMed )
Supplement: Data_Sheet_1.xlsx › Supplementary_Table_3
Full-length transcript amplification and sequencing as universal method to test mRNA integrity and biallelic expression in mismatch repair genes.
Morak M et al.
European Journal of Human Genetics : Ejhg, 2019
Computational and cellular studies reveal structural destabilization and degradation of MLH1 variants in Lynch syndrome.
Abildgaard AB et al.
Elife, 2019
Analysis of hereditary cancer syndromes by using a panel of genes: novel and multiple pathogenic mutations.
Tsaousis GN et al.
Bmc Cancer, 2019
31159747 (PubMed )
Supplement: 12885_2019_5756_MOESM6_ESM.xlsx › Supplementary_Table_S5
Targeted sequencing of 36 known or putative colorectal cancer susceptibility genes.
DeRycke MS et al.
Molecular Genetics & Genomic Medicine, 2017
28944238 (PubMed )
Supplement: MGG3-5-553-s002.xlsx › ST2
VarDict: a novel and versatile variant caller for next-generation sequencing in cancer research.
Lai Z et al.
Nucleic Acids Research, 2016
27060149 (PubMed )
Supplement: gkw227_Supplementary_Data.zip › nar-03544-met-k-2015-File003.xls › Suppl._Table_3
Classification of mismatch repair gene missense variants with PON-MMR.
Ali H et al.
Human Mutation, 2012
Functional analysis of human MLH1 variants using yeast and in vitro mismatch repair assays.
Takahashi M et al.
Cancer Research, 2007
Causes of microsatellite instability in colorectal tumors: implications for hereditary non-polyposis colorectal cancer screening.
Potocnik U et al.
Cancer Genetics and Cytogenetics, 2001
Nationwide study of clinical and molecular features of hereditary non-polyposis colorectal cancer (HNPCC) in Latvia.
Irmejs A et al.
Anticancer Research, 0
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