Article
Germline hypermethylation of MLH1 and EPCAM deletions are a frequent cause of Lynch syndrome.
Genes, chromosomes & cancer - 1 Aug 2009
Niessen Renée C, Hofstra Robert M W, Westers Helga, Ligtenberg Marjolijn J L, Kooi Krista, Jager Paul O J, de Groote Marloes L, Dijkhuizen Trijnie, Olderode-Berends Maran J W, Hollema Harry, Kleibeuker Jan H, Sijmons Rolf H
Abstract excerpt
It was shown that Lynch syndrome can be caused by germline hypermethylation of the MLH1 and MSH2 promoters. Furthermore, it has been demonstrated very recently that germline deletions of the 3' region of EPCAM cause transcriptional read-through which results in silencing of MSH2 by hypermethylation. We wanted to determine the prevalence of germline MLH1 promoter hypermethylation and of germline and somatic MSH2...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.