Associated Papers
Increased colorectal and endometrial cancer rates in a genomically ascertained Lynch syndrome cohort.
Hallquist MLG et al.
Jnci Cancer Spectrum, 2025
Pan-tumor validation of a NGS fraction-based MSI analysis as a predictor of response to Pembrolizumab.
Lin DI et al.
Npj Precision Oncology, 2024
Evolutionary origin of germline pathogenic variants in human DNA mismatch repair genes.
Lei H et al.
Human Genomics, 2024
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
Prevalence of Germline Pathogenic Variants in Cancer Predisposing Genes in Czech and Belgian Pancreatic Cancer Patients.
Wieme G et al.
Cancers, 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
Exome sequencing and characterization of 49,960 individuals in the UK Biobank.
Van Hout CV et al.
Nature, 2020
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
Identification of a Variety of Mutations in Cancer Predisposition Genes in Patients With Suspected Lynch Syndrome.
Yurgelun MB et al.
Gastroenterology, 2015
A homozygous PMS2 founder mutation with an attenuated constitutional mismatch repair deficiency phenotype.
Li L et al.
Journal of Medical Genetics, 2015
Recurrent and founder mutations in the PMS2 gene.
Tomsic J et al.
Clinical Genetics, 2013
Agenesis of the corpus callosum and gray matter heterotopia in three patients with constitutional mismatch repair deficiency syndrome.
Baas AF et al.
European Journal of Human Genetics : Ejhg, 2013
Childhood brain tumours due to germline bi-allelic mismatch repair gene mutations.
Johannesma PC et al.
Clinical Genetics, 2011
Paediatric intestinal cancer and polyposis due to bi-allelic PMS2 mutations: case series, review and follow-up guidelines.
Herkert JC et al.
European Journal of Cancer (oxford, England : 1990), 2011
Feasibility of screening for Lynch syndrome among patients with colorectal cancer.
Hampel H et al.
Journal of Clinical Oncology : Official Journal of the American Society of Clinical Oncology, 2008
The clinical phenotype of Lynch syndrome due to germ-line PMS2 mutations.
Senter L et al.
Gastroenterology, 2008
Multifocal anaplastic astrocytoma in a patient with hereditary colorectal cancer, transcobalamin II deficiency, agenesis of the corpus callosum, mental retardation, and inherited PMS2 mutation.
Gururangan S et al.
Neuro-oncology, 2008