Associated Papers
Pathogenic variation in human DNA damage repair genes was originated from the evolutionary process of modern humans.
Li J et al.
Genes & Diseases, 2026
Real-World Evaluation of Microsatellite Instability Detection via Targeted NGS Panels in Routine Molecular Diagnostics.
Škerl P et al.
International Journal of Molecular Sciences, 2025
Risk of lymphoid malignancy associated with cancer predisposition genes.
Boddicker NJ et al.
Blood Cancer Journal, 2025
Haplotype analysis detects MLH1 founder variant in Indian Lynch syndrome patient cohort.
Sheth H et al.
Familial Cancer, 2024
Pathogenic variants in human DNA damage repair genes mostly arose in recent human history.
Zhao B et al.
Bmc Cancer, 2024
Evolutionary origin of germline pathogenic variants in human DNA mismatch repair genes.
Lei H et al.
Human Genomics, 2024
Mutation-specific Mismatch Repair-deficient Benign Endometrial Glands in Endometrial Biopsies and Curettings Are a Biomarker of Lynch Syndrome and Associate With Endometrial Carcinoma Development.
Hegazy S et al.
The American Journal of Surgical Pathology, 2023
SpliceAI-10k calculator for the prediction of pseudoexonization, intron retention, and exon deletion.
Canson DM et al.
Bioinformatics (oxford, England), 2023
Genetic genealogy uncovers a founder deletion mutation in the cerebral cavernous malformations 2 gene.
Gallione CJ et al.
Human Genetics, 2022
Assessment of Clinical Benefit of Integrative Genomic Profiling in Advanced Solid Tumors.
Cobain EF et al.
Jama Oncology, 2021
Prospective Statewide Study of Universal Screening for Hereditary Colorectal Cancer: The Ohio Colorectal Cancer Prevention Initiative.
Pearlman R et al.
Jco Precision Oncology, 2021
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
Rationale for evaluating breast cancers of Lynch syndrome patients for mismatch repair gene expression.
Sorscher S
Breast Cancer Research and Treatment, 2019
A plugin for the Ensembl Variant Effect Predictor that uses MaxEntScan to predict variant spliceogenicity.
Shamsani J et al.
Bioinformatics (oxford, England), 2019
Outcomes of disease-specific next-generation sequencing gene panel testing in adolescents and young adults with colorectal cancer.
Mork ME et al.
Cancer Genetics, 2019
Modified capture-recapture estimates of the number of families with Lynch syndrome in Central Ohio.
Ranola JMO et al.
Familial Cancer, 2019
Haplotype analysis suggest that the MLH1 c.2059C > T mutation is a Swedish founder mutation.
von Salomé J et al.
Familial Cancer, 2018
Assessment of Tumor Sequencing as a Replacement for Lynch Syndrome Screening and Current Molecular Tests for Patients With Colorectal Cancer.
Hampel H et al.
Jama Oncology, 2018
Clinical features and survival of gastric cancer patients with DNA mismatch repair deficiency.
Ikoma N et al.
Journal of Surgical Oncology, 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
Targeted sequencing of 36 known or putative colorectal cancer susceptibility genes.
DeRycke MS et al.
Molecular Genetics & Genomic Medicine, 2017
Integrative clinical genomics of metastatic cancer.
Robinson DR et al.
Nature, 2017
Exome sequencing covers >98% of mutations identified on targeted next generation sequencing panels.
LaDuca H et al.
Plos One, 2017
Identification of a Variety of Mutations in Cancer Predisposition Genes in Patients With Suspected Lynch Syndrome.
Yurgelun MB et al.
Gastroenterology, 2015
Mismatch repair genes founder mutations and cancer susceptibility in Lynch syndrome.
Ponti G et al.
Clinical Genetics, 2015
Genome-wide discovery of human splicing branchpoints.
Mercer TR et al.
Genome Research, 2015
A founder MLH1 mutation in Lynch syndrome families from Piedmont, Italy, is associated with an increased risk of pancreatic tumours and diverse immunohistochemical patterns.
Borelli I et al.
Familial Cancer, 2014
Nucleosome positioning is unaltered at MLH1 splice site mutations in cells derived from Lynch syndrome patients.
Sloane MA et al.
Clinical Epigenetics, 2014
A multifactorial likelihood model for MMR gene variant classification incorporating probabilities based on sequence bioinformatics and tumor characteristics: a report from the Colon Cancer Family Registry.
Thompson BA et al.
Human Mutation, 2013
Cancer risks and immunohistochemical profiles linked to the Danish MLH1 Lynch syndrome founder mutation.
Therkildsen C et al.
Familial Cancer, 2012
Interval colon cancer in a Lynch syndrome patient under annual colonoscopic surveillance: a case for advanced imaging techniques?
Oxentenko AS et al.
Bmc Gastroenterology, 2012
An American founder mutation in MLH1.
Tomsic J et al.
International Journal of Cancer, 2012
Comprehensive molecular analysis of mismatch repair gene defects in suspected Lynch syndrome (hereditary nonpolyposis colorectal cancer) cases.
Mueller J et al.
Cancer Research, 2009
Classifying MLH1 and MSH2 variants using bioinformatic prediction, splicing assays, segregation, and tumor characteristics.
Arnold S et al.
Human Mutation, 2009
Gene symbol: hMSH2. Disease: hereditary nonpolyposis colorectal cancer.
Otway R et al.
Human Genetics, 2005
Gene symbol: MLH1. Disease: Hereditary nonpolyposis colorectal cancer.
Otway R et al.
Human Genetics, 2005
Gene symbol: MLH1. Disease: Hereditary nonpolyposis colorectal cancer.
Otway R et al.
Human Genetics, 2005
Gene symbol: MSH2. Disease: Hereditary nonpolyposis colorectal cancer.
Otway R et al.
Human Genetics, 2005
Gene symbol: MSH2. Disease: Hereditary nonpolyposis colorectal cancer.
Otway R et al.
Human Genetics, 2005
Gene symbol: MSH2. Disease: Hereditary nonpolyposis colorectal cancer.
Otway R et al.
Human Genetics, 2005
Gene symbol: MSH2. Disease: Hereditary nonpolyposis colorectal cancer.
Otway R et al.
Human Genetics, 2005