Associated Papers
Deficiencies in germline DNA repair are associated with early-onset gastrointestinal cancers and inform precision prevention strategies.
Yang W et al.
Journal of Translational Medicine, 2025
Bridging data gaps: Methodological advances in extracting and analyzing genetic information from unstructured clinical records in hereditary cancer.
Cardona DS et al.
Cancer Epidemiology, 2025
Clinical and genomic features of Lynch syndrome differ by tumor site and disease spectrum.
Li S et al.
Nature Communications, 2025
The role of multi-organ cancer predisposition genes in the risk of inherited and histologically diverse gastric cancer.
Guerra J et al.
Ebiomedicine, 2025
Uncommon molecular alterations in follicular-derived thyroid carcinoma: A single institution study.
Alexiev BA et al.
Pathology, Research and Practice, 2024
All exons are not created equal-exon vulnerability determines the effect of exonic mutations on splicing.
Holm LL et al.
Nucleic Acids Research, 2024
Evolutionary origin of germline pathogenic variants in human DNA mismatch repair genes.
Lei H et al.
Human Genomics, 2024
Oncogenic activation revealed by FGFR2 genetic alterations in intrahepatic cholangiocarcinomas.
Pu X et al.
Cell & Bioscience, 2023
Clinical Testing for Mismatch Repair in Neoplasms Using Multiple Laboratory Methods.
Yang RK et al.
Cancers, 2022
Detection of oncogenic and clinically actionable mutations in cancer genomes critically depends on variant calling tools.
Garcia-Prieto CA et al.
Bioinformatics (oxford, England), 2022
Contribution of mRNA Splicing to Mismatch Repair Gene Sequence Variant Interpretation.
Thompson BA et al.
Frontiers in Genetics, 2020
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
Rapid detection of germline mutations for hereditary gastrointestinal polyposis/cancers using HaloPlex target enrichment and high-throughput sequencing technologies.
Kohda M et al.
Familial Cancer, 2016
Somatic MMR gene mutations as a cause for MSI-H sebaceous neoplasms in Muir-Torre syndrome-like patients.
Joly MO et al.
Human Mutation, 2015
Early detection of metachronous bile duct cancer in Lynch syndrome: report of a case.
Shigeyasu K et al.
Surgery Today, 2014
Verification of the three-step model in assessing the pathogenicity of mismatch repair gene variants.
Kansikas M et al.
Human Mutation, 2011
A large fraction of unclassified variants of the mismatch repair genes MLH1 and MSH2 is associated with splicing defects.
Tournier I et al.
Human Mutation, 2008
Disruption of an exon splicing enhancer in exon 3 of MLH1 is the cause of HNPCC in a Quebec family.
McVety S et al.
Journal of Medical Genetics, 2006
Tumours from MSH2 mutation carriers show loss of MSH2 expression but many tumours from MLH1 mutation carriers exhibit weak positive MLH1 staining.
Mangold E et al.
The Journal of Pathology, 2005