Associated Papers
PMS2 c.2117del (p.Lys706Serfs*19) is the Most Frequent Cancer-Associated Founder Pathogenic Variant in the French-Canadian Population of Quebec, Canada.
Chong AL et al.
Clinical Genetics, 2025
This is not Lynch syndrome: lessons from misattributed diagnoses in constitutional mismatch repair deficiency.
Mohammad AH et al.
Esmo Gastrointestinal Oncology, 2024
Evolutionary origin of germline pathogenic variants in human DNA mismatch repair genes.
Lei H et al.
Human Genomics, 2024
38287404 (PubMed )
Supplement: 40246_2024_573_MOESM3_ESM.xls › PMS2
Development and evaluation of INT2GRATE: a platform for comprehensive assessment of the role of germline variants informed by tumor signature profile in Lynch syndrome.
Isidro RA et al.
Frontiers in Oncology, 2023
Real-World Results from Combined Screening for Monogenic Genomic Health Risks and Reproductive Risks in 300 Adults.
Wildin RS et al.
Journal of Personalized Medicine, 2022
Penetrance and outcomes at 1-year following return of actionable variants identified by genome sequencing.
Lee C et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2021
33824501 (PubMed )
Supplement: NIHMS1700422-supplement-Supplementary___Appendix__online_only_material__etc___2.pdf
Characterisation of heterozygous PMS2 variants in French patients with Lynch syndrome.
Wang Q et al.
Journal of Medical Genetics, 2020
A sensitive and scalable microsatellite instability assay to diagnose constitutional mismatch repair deficiency by sequencing of peripheral blood leukocytes.
Gallon R et al.
Human Mutation, 2019
30740824 (PubMed )
Supplement: HUMU-40-649-s002.xlsx › Tabelle1
Diagnostic yield and clinical utility of a comprehensive gene panel for hereditary tumor syndromes.
Henn J et al.
Hereditary Cancer in Clinical Practice, 2019
Exome Sequencing Identifies Biallelic MSH3 Germline Mutations as a Recessive Subtype of Colorectal Adenomatous Polyposis.
Adam R et al.
American Journal of Human Genetics, 2016
Select a paper to view details