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
40546006 (PubMed )
Supplement: CGE-108-747-s001.docx
Clinical and genomic features of Lynch syndrome differ by tumor site and disease spectrum.
Li S et al.
Nature Communications, 2025
41261115 (PubMed )
Supplement: 41467_2025_65164_MOESM6_ESM.xlsx › Supplementary_Figure_1
Genotype-phenotype correlations in PMS2-associated constitutional mismatch repair deficiency: a systematic literature review.
Munteanu CV et al.
Oncology Reviews, 2025
Genetic and clinical characteristics of genetic tumor syndromes in the central nervous system cancers: Implications for clinical practice.
Wang C et al.
Iscience, 2024
39493880 (PubMed )
Supplement: mmc2.xlsx › S2.GTS_patients_enrolled
Report of the sixth meeting of the European Consortium 'Care for CMMRD' (C4CMMRD), Paris, France, November 16th 2022.
Guerrini-Rousseau L et al.
Familial Cancer, 2024
Constitutional mismatch repair deficiency mimicking Lynch syndrome is associated with hypomorphic mismatch repair gene variants.
Gallon R et al.
Npj Precision Oncology, 2024
Analyzing the mutational landscape of prostate cancer susceptibility genes through next-generation sequencing (NGS).
Riaz F et al.
American Journal of Translational Research, 2024
Genetically engineered mouse models for hereditary cancer syndromes.
Biswas K et al.
Cancer Science, 2023
PMS2-associated Lynch syndrome: Past, present and future.
Andini KD et al.
Frontiers in Oncology, 2023
Predictive functional assay-based classification of PMS2 variants in Lynch syndrome.
Rayner E et al.
Human Mutation, 2022
A novel mouse model of PMS2 founder mutation that causes mismatch repair defect due to aberrant splicing.
Biswas K et al.
Cell Death & Disease, 2021
Alternative splicing of mRNA in colorectal cancer: new strategies for tumor diagnosis and treatment.
Chen Y et al.
Cell Death & Disease, 2021
Immune Checkpoint Inhibition as Primary Adjuvant Therapy for an IDH1-Mutant Anaplastic Astrocytoma in a Patient with CMMRD: A Case Report-Usage of Immune Checkpoint Inhibition in CMMRD.
Rittberg R et al.
Current Oncology (toronto, Ont.), 2021
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-s003.xlsx › CMMRD_Cohort
A homozygous PMS2 founder mutation with an attenuated constitutional mismatch repair deficiency phenotype.
Li L et al.
Journal of Medical Genetics, 2015
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