Extracolonic tumours in a pedigree with EPCAM-related Lynch Syndrome

This report illustrates the existence of intrafamilial clinical heterogeneity among carriers of this EPCAM alteration, and hence the difficulty in predicting phenotype for EPCAM-associated Lynch syndrome.PMID:35367635 | DOI:10.1016/j.ejmg.2022.104479

Source: European Journal of Medical Genetics - April 3, 2022 Category: Genetics & Stem Cells Authors: Joana Alves da Silva S érgio Castedo Isabel Pedroto Ricardo Marcos-Pinto Source Type: research