Article
De novo constitutional MLH1 epimutations confer early-onset colorectal cancer in two new sporadic Lynch syndrome cases, with derivation of the epimutation on the paternal allele in one.
International journal of cancer - 15 Feb 2011
Goel Ajay, Nguyen Thuy-Phuong, Leung Hon-Chiu E, Nagasaka Takeshi, Rhees Jennifer, Hotchkiss Erin, Arnold Mildred, Banerji Pia, Koi Minoru, Kwok Chau-To, Packham Deborah, Lipton Lara, Boland C Richard, Ward Robyn L, Hitchins Megan P
Abstract excerpt
Lynch syndrome is an autosomal dominant cancer predisposition syndrome classically caused by germline mutations of the mismatch repair genes, MLH1, MSH2, MSH6 and PMS2. Constitutional epimutations of the MLH1 gene, characterized by soma-wide methylation of a single allele of the promoter and allelic transcriptional silencing, have been identified in a subset of Lynch syndrome cases lacking a sequence mutation in...
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