Article
The MLH1 c.-27C>A and c.85G>T variants are linked to dominantly inherited MLH1 epimutation and are borne on a European ancestral haplotype.
European journal of human genetics : EJHG - 1 May 2014
Kwok Chau-To, Vogelaar Ingrid P, van Zelst-Stams Wendy A, Mensenkamp Arjen R, Ligtenberg Marjolijn J, Rapkins Robert W, Ward Robyn L, Chun Nicolette, Ford James M, Ladabaum Uri, McKinnon Wendy C, Greenblatt Marc S, Hitchins Megan P
Abstract excerpt
Germline mutations of the DNA mismatch repair genes MLH1, MSH2, MSH6 or PMS2, and deletions affecting the EPCAM gene adjacent to MSH2, underlie Lynch syndrome by predisposing to early-onset colorectal, endometrial and other cancers. An alternative but rare cause of Lynch syndrome is constitutional epimutation of MLH1, whereby promoter methylation and transcriptional silencing of one allele occurs throughout...
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