The role of epigenetics in Lynch syndrome.
Australia. In Fam Cancer, 06 Apr 2013
In the past decade, the alternative mechanism of constitutional epimutation of the two major mismatch repair genes, MLH1 and MSH2, was identified in a proportion of these outstanding cases.
[A novel genetic disorder of Lynch syndrome - EPCAM gene deletion].
Nishinomiya, Japan. In Gan To Kagaku Ryoho, 28 Feb 2013
Germline mutations of 4 MMR genes, e.g., MLH1, MSH2, MSH6 and PMS2, had been identified as the cause of this disease, however, a novel mechanism, epigenetic inactivation of MSH2 gene due to hypermethylation of promotor region by the deletion of 3'part of epithelial cell adhesion molecule(EPCAM) gene which is located upstream of the MSH2 gene, has been reported in recent years.
Promoter methylation of tumor-related genes in gastric carcinogenesis.
Shenyang, China. In Histol Histopathol, Oct 2012
A great number of genes with promoter methylation have been observed in gastric cancer (GC), among which p16INK4A (p16), Mut L homologue 1 (MLH1), Epithelial-cadherin (E-cadherin), Runt-related transcription factor 3 (RUNX3), adenomatous polyposis coli (APC), O(6)-methylguanine-DNA methyltransferase (MGMT), Ras association domain family 1A (RASSF1A) and Death-associated protein kinase (DAPK) have been extensively studied.
Comprehensive molecular characterization of human colon and rectal cancer.
In Nature, Aug 2012
In total, 16% of colorectal carcinomas were found to be hypermutated: three-quarters of these had the expected high microsatellite instability, usually with hypermethylation and MLH1 silencing, and one-quarter had somatic mismatch-repair gene and polymerase ε (POLE) mutations.
Genetic testing by cancer site: colon (nonpolyposis syndromes).
Columbus, United States. In Cancer J, Jul 2012
Lynch syndrome, which is associated with mutations in 1 of 4 mismatch repair genes (MLH1, MSH2, MSH6, and PMS2), is a well-described hereditary cancer predisposition syndrome associated with a substantial risk of colon, rectum, and endometrial cancer.