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_MOESM2_ESM.xlsx › PVs
The usefulness of comprehensive genome profiling test in screening of Lynch syndrome independent of the conventional clinical screening or microsatellite instability tests.
Yamaguchi M et al.
Journal of Human Genetics, 2025
Evolutionary origin of germline pathogenic variants in human DNA mismatch repair genes.
Lei H et al.
Human Genomics, 2024
38287404 (PubMed )
Supplement: 40246_2024_573_MOESM3_ESM.xls › MSH2
A pathological complete response after immunotherapy with pembrolizumab for distal duodenal adenocarcinoma caused by Lynch syndrome: a case report.
Ikeda S et al.
International Cancer Conference Journal, 2023
Background splicing as a predictor of aberrant splicing in genetic disease.
Alexieva D et al.
Rna Biology, 2022
35188075 (PubMed )
Supplement: KRNB_A_2024031_SM7960.zip › Supplementary_information › Table_S2_css.xlsx › Table_S2_DBASS5_index
Japanese Society for Cancer of the Colon and Rectum (JSCCR) Guidelines 2016 for the Clinical Practice of Hereditary Colorectal Cancer (Translated Version).
Ishida H et al.
Journal of the Anus, Rectum and Colon, 2018
Determination of splice-site mutations in Lynch syndrome (hereditary non-polyposis colorectal cancer) patients using functional splicing assay.
Naruse H et al.
Familial Cancer, 2009
Increased hypermutation at G and C nucleotides in immunoglobulin variable genes from mice deficient in the MSH2 mismatch repair protein.
Phung QH et al.
The Journal of Experimental Medicine, 1998
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