Associated Papers
Phase separation as a possible mechanism for dosage sensitivity.
Yang L et al.
Genome Biology, 2024
Discordant Staining Patterns and Microsatellite Results in Tumors of MSH6 Pathogenic Variant Carriers.
van der Werf-'t Lam AS et al.
Modern Pathology : an Official Journal of the United States and Canadian Academy of Pathology, Inc, 2023
Microsatellite instability in noncolorectal and nonendometrial malignancies in patients with Lynch syndrome.
Elze L et al.
Journal of the National Cancer Institute, 2023
Uncovering the Contribution of Moderate-Penetrance Susceptibility Genes to Breast Cancer by Whole-Exome Sequencing and Targeted Enrichment Sequencing of Candidate Genes in Women of European Ancestry.
Dumont M et al.
Cancers, 2022
Lessons learned from unsolicited findings in clinical exome sequencing of 16,482 individuals.
van der Schoot V et al.
European Journal of Human Genetics : Ejhg, 2022
Primary care providers' responses to unsolicited Lynch syndrome secondary findings of varying clinical significance.
Galbraith LN et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2021
Evaluation of yield and experiences of age-related molecular investigation for heritable and nonheritable causes of mismatch repair deficient colorectal cancer to identify Lynch syndrome.
Vos JR et al.
International Journal of Cancer, 2020
Development of a new, simple and cost-effective diagnostic tool for genetic screening of hereditary colorectal cancer--the DNA microarray assay.
Stojcev Z et al.
Acta Biochimica Polonica, 2013
Prospective evaluation of molecular screening for Lynch syndrome in patients with endometrial cancer ≤ 70 years.
Leenen CH et al.
Gynecologic Oncology, 2012
Yield of routine molecular analyses in colorectal cancer patients ≤70 years to detect underlying Lynch syndrome.
van Lier MG et al.
The Journal of Pathology, 2012
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
Risks of Lynch syndrome cancers for MSH6 mutation carriers.
Baglietto L et al.
Journal of the National Cancer Institute, 2010
Genome-wide copy neutral LOH is infrequent in familial and sporadic microsatellite unstable carcinomas.
van Puijenbroek M et al.
Familial Cancer, 2008
The natural history of a combined defect in MSH6 and MUTYH in a HNPCC family.
van Puijenbroek M et al.
Familial Cancer, 2007
A missense mutation in both hMSH2 and APC in an Ashkenazi Jewish HNPCC kindred: implications for clinical screening.
Yuan ZQ et al.
Journal of Medical Genetics, 1999