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
Clinical and genomic features of Lynch syndrome differ by tumor site and disease spectrum.
Li S et al.
Nature Communications, 2025
Multi-locus inherited neoplasia alleles syndromes in cancer: implications for clinical practice.
Yuen J et al.
European Journal of Human Genetics : Ejhg, 2025
A Family With Multiple Lynch Syndrome Mutations: Navigating Counseling Complexities.
Silva-Smith R et al.
Acg Case Reports Journal, 2025
Evolutionary origin of germline pathogenic variants in human DNA mismatch repair genes.
Lei H et al.
Human Genomics, 2024
SpliceAI-10k calculator for the prediction of pseudoexonization, intron retention, and exon deletion.
Canson DM et al.
Bioinformatics (oxford, England), 2023
Whole-exome Sequencing of Nigerian Prostate Tumors from the Prostate Cancer Transatlantic Consortium (CaPTC) Reveals DNA Repair Genes Associated with African Ancestry.
White JA et al.
Cancer Research Communications, 2022
Prevalence and spectrum of DNA mismatch repair gene variation in the general Chinese population.
Zhang L et al.
Journal of Medical Genetics, 2022
Complete Loss of EPCAM Immunoexpression Identifies EPCAM Deletion Carriers in MSH2-Negative Colorectal Neoplasia.
Cuatrecasas M et al.
Cancers, 2020
Retained mismatch repair protein expression occurs in approximately 6% of microsatellite instability-high cancers and is associated with missense mutations in mismatch repair genes.
Hechtman JF et al.
Modern Pathology : an Official Journal of the United States and Canadian Academy of Pathology, Inc, 2020
Prevalence of pathogenic germline cancer risk variants in high-risk urothelial carcinoma.
Nassar AH et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2020
Contribution of mRNA Splicing to Mismatch Repair Gene Sequence Variant Interpretation.
Thompson BA et al.
Frontiers in Genetics, 2020
Early Colorectal Cancers Provide New Evidence for a Lynch Syndrome-to-CMMRD Phenotypic Continuum.
Fernandez-Rozadilla C et al.
Cancers, 2019
A plugin for the Ensembl Variant Effect Predictor that uses MaxEntScan to predict variant spliceogenicity.
Shamsani J et al.
Bioinformatics (oxford, England), 2019
Using Somatic Mutations from Tumors to Classify Variants in Mismatch Repair Genes.
Shirts BH et al.
American Journal of Human Genetics, 2018
Genomic characterization of biliary tract cancers identifies driver genes and predisposing mutations.
Wardell CP et al.
Journal of Hepatology, 2018
Computational Tools for Splicing Defect Prediction in Breast/Ovarian Cancer Genes: How Efficient Are They at Predicting RNA Alterations?
Moles-Fernández A et al.
Frontiers in Genetics, 2018
Exome sequencing covers >98% of mutations identified on targeted next generation sequencing panels.
LaDuca H et al.
Plos One, 2017
Lynch syndrome mutation spectrum in New South Wales, Australia, including 55 novel mutations.
Sjursen W et al.
Molecular Genetics & Genomic Medicine, 2016
Identification of a Variety of Mutations in Cancer Predisposition Genes in Patients With Suspected Lynch Syndrome.
Yurgelun MB et al.
Gastroenterology, 2015
Current clinical criteria for Lynch syndrome are not sensitive enough to identify MSH6 mutation carriers.
Sjursen W et al.
Journal of Medical Genetics, 2010
Germ-line mutations in mismatch repair genes associated with prostate cancer.
Grindedal EM et al.
Cancer Epidemiology, Biomarkers & Prevention : a Publication of the American Association for Cancer Research, Cosponsored by the American Society of Preventive Oncology, 2009
Hereditary non-polyposis colorectal cancer: clinical and molecular evidence for a new entity of hereditary colorectal cancer.
Mueller-Koch Y et al.
Gut, 2005