Fiche publication
Date publication
décembre 2018
Journal
Genetics in medicine : official journal of the American College of Medical Genetics
Auteurs
Membres identifiés du Cancéropôle Est :
Pr JONVEAUX Philippe
Tous les auteurs :
Leclerc J, Flament C, Lovecchio T, Delattre L, Ait Yahya E, Baert-Desurmont S, Burnichon N, Bronner M, Cabaret O, Lejeune S, Guimbaud R, Morin G, Mauillon J, Jonveaux P, Laurent-Puig P, Frébourg T, Porchet N, Buisine MP
Lien Pubmed
Résumé
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 MLH1 epimutations have been reported so far.
Mots clés
Lynch syndrome, MLH1 promoter methylation, constitutional epimutation, secondary epimutation, structural variants
Référence
Genet Med. 2018 12;20(12):1589-1599
