Associated Papers
Unraveling mutagenic processes influencing the tumor mutational patterns of individuals with constitutional mismatch repair deficiency.
Weijers DD et al.
Nature Communications, 2025
Risk of lymphoid malignancy associated with cancer predisposition genes.
Boddicker NJ et al.
Blood Cancer Journal, 2025
Delineating genotype and parent-of-origin effect on the phenotype in MSH6-associated Lynch syndrome.
van der Werf-'t Lam AS et al.
Genes, Chromosomes & Cancer, 2024
Molecular analysis of cancer genomes in children with Lynch syndrome: Exploring causal associations.
Weijers DD et al.
International Journal of Cancer, 2024
Phase separation as a possible mechanism for dosage sensitivity.
Yang L et al.
Genome Biology, 2024
Microsatellite instability in noncolorectal and nonendometrial malignancies in patients with Lynch syndrome.
Elze L et al.
Journal of the National Cancer Institute, 2023
High Prevalence of Constitutional Mismatch Repair Deficiency in a Pediatric T-cell Lymphoblastic Lymphoma Cohort.
Kroeze E et al.
Hemasphere, 2022
The context-specific role of germline pathogenicity in tumorigenesis.
Srinivasan P et al.
Nature Genetics, 2021
Repertoire Sequencing of B Cells Elucidates the Role of UNG and Mismatch Repair Proteins in Somatic Hypermutation in Humans.
IJspeert H et al.
Frontiers in Immunology, 2019
Evaluation of a 27-gene inherited cancer panel across 630 consecutive patients referred for testing in a clinical diagnostic laboratory.
Gardner SA et al.
Hereditary Cancer in Clinical Practice, 2018
Mismatch repair genes founder mutations and cancer susceptibility in Lynch syndrome.
Ponti G et al.
Clinical Genetics, 2015
Tumours with loss of MSH6 expression are MSI-H when screened with a pentaplex of five mononucleotide repeats.
You JF et al.
British Journal of Cancer, 2010
Risk of urothelial bladder cancer in Lynch syndrome is increased, in particular among MSH2 mutation carriers.
van der Post RS et al.
Journal of Medical Genetics, 2010
[Recognition of congenital endometrial carcinoma: the importance of family history and investigation of microsatellite instability in the tumour].
Hoogerbrugge N et al.
Nederlands Tijdschrift Voor Geneeskunde, 2007
Patients with an unexplained microsatellite instable tumour have a low risk of familial cancer.
Overbeek LI et al.
British Journal of Cancer, 2007
Very low prevalence of germline MSH6 mutations in hereditary non-polyposis colorectal cancer suspected patients with colorectal cancer without microsatellite instability.
Kets CM et al.
British Journal of Cancer, 2006
Two Swedish founder MSH6 mutations, one nonsense and one missense, conferring high cumulative risk of Lynch syndrome.
Cederquist K et al.
Clinical Genetics, 2005
Cancer risk in hereditary nonpolyposis colorectal cancer due to MSH6 mutations: impact on counseling and surveillance.
Hendriks YM et al.
Gastroenterology, 2004