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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Détails bibliographiques
Publié dans:Mol Genet Genomic Med
Auteurs principaux: Cini, Giulia, Quaia, Michele, Canzonieri, Vincenzo, Fornasarig, Mara, Maestro, Roberta, Morabito, Alberto, D'Elia, Angela Valentina, Urso, Emanuele Damiano, Mammi, Isabella, Viel, Alessandra
Format: Artigo
Langue:Inglês
Publié: John Wiley and Sons Inc. 2019
Sujets:
Original Articles
Accès en ligne:https://ncbi.nlm.nih.gov/pmc/articles/PMC6503020/
https://ncbi.nlm.nih.gov/pubmed/30916491
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/mgg3.587
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