Diversity of genetic events associated with MLH1 promoter methylation in Lynch syndrome families with heritable constitutional epimutation.

doi:10.1038/gim.2018.47

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Article

Diversity of genetic events associated with MLH1 promoter methylation in Lynch syndrome families with heritable constitutional epimutation.

Genetics in medicine : official journal of the American College of Medical Genetics - 1 Dec 2018

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

Abstract excerpt

PURPOSE: 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....

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PMID: 29790873
DOI: 10.1038/gim.2018.47

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MLH1

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