Toward a better definition of EPCAM deletions in Lynch Syndrome: Report of new variants in Italy and the associated molecular phenotype

BACKGROUND: Inherited epimutations of Mismatch Repair (MMR) genes are responsible for Lynch Syndrome (LS) in a small, but well defined, subset of patients. Methylation of the MSH2 promoter consequent to the deletion of the upstream EPCAM gene is found in about 1%–3% of the LS patients and represents...

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Detalles Bibliográficos
Autores principales: Cini, Giulia, Quaia, Michele, Canzonieri, Vincenzo, Fornasarig, Mara, Maestro, Roberta, Morabito, Alberto, D'Elia, Angela Valentina, Urso, Emanuele Damiano, Mammi, Isabella, Viel, Alessandra
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2019
Materias:
Original Articles
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6503020/
https://www.ncbi.nlm.nih.gov/pubmed/30916491
http://dx.doi.org/10.1002/mgg3.587

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