Associated Papers
PERSEUS1: An Open-label, Investigator-initiated, Single arm, Phase 2 Trial Testing the Efficacy of Pembrolizumab in Patients with Metastatic Castration-resistant Prostate Cancer with Mismatch Repair Deficiency and Other Immune-sensitive Molecular Subtypes.
Rescigno P et al.
European Urology Oncology, 2025
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 › MSH2
Saturation-scale functional evidence supports clinical variant interpretation in Lynch syndrome.
Scott A et al.
Genome Biology, 2022
36550560 (PubMed )
Supplement: 13059_2022_2839_MOESM4_ESM.xlsx › msh2_som_mis_suppl
Prevalence and spectrum of DNA mismatch repair gene variation in the general Chinese population.
Zhang L et al.
Journal of Medical Genetics, 2022
34172528 (PubMed )
Supplement: jmedgenet-2021-107886supp006.xlsx › PMS2
Lynch syndrome pre-screening and comprehensive characterization in a multi-center large cohort of Chinese patients with colorectal cancer.
Li Y et al.
Cancer Biology & Medicine, 2022
35638907 (PubMed )
Supplement: cbm-19-1235-s001.pdf
Double somatic mismatch repair gene pathogenic variants as common as Lynch syndrome among endometrial cancer patients.
Hampel H et al.
Gynecologic Oncology, 2021
High frequency of pathogenic germline variants within homologous recombination repair in patients with advanced cancer.
Bertelsen B et al.
Npj Genomic Medicine, 2019
31263571 (PubMed )
Supplement: 41525_2019_87_MOESM1_ESM.pdf
Mismatch repair gene mutation spectrum in the Swedish Lynch syndrome population.
Lagerstedt-Robinson K et al.
Oncology Reports, 2016
Germ-line variants identified by next generation sequencing in a panel of estrogen and cancer associated genes correlate with poor clinical outcome in Lynch syndrome patients.
Jóri B et al.
Oncotarget, 2015
Select a paper to view details