학술논문
Diversity of genetic events associated with MLH1promoter methylation in Lynch syndrome families with heritable constitutional epimutation
Document Type
Article
Author
Leclerc, Julie; Flament, Cathy; Lovecchio, Tonio; Delattre, Lucie; Ait Yahya, Emilie; Baert-Desurmont, Stéphanie; Burnichon, Nelly; Bronner, Myriam; Cabaret, Odile; Lejeune, Sophie; Guimbaud, Rosine; Morin, Gilles; Mauillon, Jacques; Jonveaux, Philippe; Laurent-Puig, Pierre; Frébourg, Thierry; Porchet, Nicole; Buisine, Marie-Pierre
Source
Genetics in Medicine; December 2018, Vol. 20 Issue: 12 p1589-1599, 11p
Subject
Language
ISSN
10983600; 15300366
Abstract
Constitutional epimutations are an alternative to genetic mutations in the etiology of genetic diseases. Some of these epimutations, termed secondary, correspond to the epigenetic effects of cis-acting genetic defects transmitted to the offspring following a Mendelian inheritance pattern. In Lynch syndrome, a few families with such apparently heritable MLH1epimutations have been reported so far.