Associated Papers
Genomic profiling in hepatocellular carcinoma: a real-world retrospective analysis.
Salani F et al.
Esmo Open, 2025
Intersection of rare pathogenic variants from TCGA in the All of Us Research Program v6.
Bates BA et al.
Hgg Advances, 2025
Evolutionary origin of germline pathogenic variants in human DNA mismatch repair genes.
Lei H et al.
Human Genomics, 2024
Understanding the Genetic Landscape of Pancreatic Ductal Adenocarcinoma to Support Personalized Medicine: A Systematic Review.
Pantaleo A et al.
Cancers, 2023
Comprehensive RNA and protein functional assessments contribute to the clinical interpretation of MSH2 variants causing in-frame splicing alterations.
Meulemans L et al.
Journal of Medical Genetics, 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
Spectrum and management of breast cancer patients with variant of uncertain significance mutations at a tertiary care centre in North India.
Mittal A et al.
Ecancermedicalscience, 2022
Genetic variant interpretation: a primer for clinicians.
Kaushik V et al.
Internal Medicine Journal, 2021
The acquisition of molecular drivers in pediatric therapy-related myeloid neoplasms.
Schwartz JR et al.
Nature Communications, 2021
Massively parallel functional testing of MSH2 missense variants conferring Lynch syndrome risk.
Jia X et al.
American Journal of Human Genetics, 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
Analysis of Sequence and Copy Number Variants in Canadian Patient Cohort With Familial Cancer Syndromes Using a Unique Next Generation Sequencing Based Approach.
Bhai P et al.
Frontiers in Genetics, 2021
EPCAM mutation update: Variants associated with congenital tufting enteropathy and Lynch syndrome.
Pathak SJ et al.
Human Mutation, 2019
The effects of genomic germline variant reclassification on clinical cancer care.
Slavin TP et al.
Oncotarget, 2019
Germline pathogenic variants in PALB2 and other cancer-predisposing genes in families with hereditary diffuse gastric cancer without CDH1 mutation: a whole-exome sequencing study.
Fewings E et al.
The Lancet. Gastroenterology & Hepatology, 2018
Targeted sequencing of 36 known or putative colorectal cancer susceptibility genes.
DeRycke MS et al.
Molecular Genetics & Genomic Medicine, 2017
Exceptions to the rule: case studies in the prediction of pathogenicity for genetic variants in hereditary cancer genes.
Rosenthal ET et al.
Clinical Genetics, 2015
Genetic diagnosis of high-penetrance susceptibility for colorectal cancer (CRC) is achievable for a high proportion of familial CRC by exome sequencing.
Chubb D et al.
Journal of Clinical Oncology : Official Journal of the American Society of Clinical Oncology, 2015
The predicted truncation from a cancer-associated variant of the MSH2 initiation codon alters activity of the MSH2-MSH6 mismatch repair complex.
Cyr JL et al.
Molecular Carcinogenesis, 2012
MUTYH-associated polyposis carcinomas frequently lose HLA class I expression - a common event amongst DNA-repair-deficient colorectal cancers.
de Miranda NF et al.
The Journal of Pathology, 2009
Compound heterozygosity for two MSH2 mutations suggests mild consequences of the initiation codon variant c.1A>G of MSH2.
Kets CM et al.
European Journal of Human Genetics : Ejhg, 2009
Classification of ambiguous mutations in DNA mismatch repair genes identified in a population-based study of colorectal cancer.
Barnetson RA et al.
Human Mutation, 2008
Identification and survival of carriers of mutations in DNA mismatch-repair genes in colon cancer.
Barnetson RA et al.
The New England Journal of Medicine, 2006
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
Gene symbol: MSH2. Disease: Hereditary nonpolyposis colorectal cancer.
Otway R et al.
Human Genetics, 2005
Evaluation of enzymatic mutation detectiontrade mark in hereditary nonpolyposis colorectal cancer.
Otway R et al.
Human Mutation, 2000
RNA-based mutation screening in hereditary nonpolyposis colorectal cancer.
Kohonen-Corish M et al.
American Journal of Human Genetics, 1996