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

ConclusionAnEPCAM deletion was the causative variant in about 2% of our institutional series of 224 LS patients, consistent with previously estimated frequencies. Early age and multiple CRCs was the main clinical feature of this subset of patients.

Source: Molecular Genetics & Genomic Medicine - March 26, 2019 Category: Genetics & Stem Cells Authors: Giulia Cini, Michele Quaia, Vincenzo Canzonieri, Mara Fornasarig, Roberta Maestro, Alberto Morabito, Angela Valentina D'Elia, Emanuele Damiano Urso, Isabella Mammi, Alessandra Viel Tags: ORIGINAL ARTICLE Source Type: research