Article
De novo germline pathogenic variant in Lynch Syndrome: A rare event or the tip of the iceberg?
Tumori - 1 Feb 2024
Brignola Clorinda, Volorio Sara, De Vecchi Giovanna, Zaffaroni Daniela, Dall'Olio Valentina, Mariette Frederique, Sardella Domenico, Capra Fabio, Signoroni Stefano, Rausa Emanuele, Vitellaro Marco, Pensotti Valeria, Ricci Maria Teresa
Abstract excerpt
Lynch Syndrome is an autosomal dominant cancer predisposition syndrome caused by germline pathogenic variants or epimutation in one of the DNA mismatch repair genes. De novo pathogenic variants in mismatch repair genes have been described as a rare event in Lynch Syndrome (1-5%), although the prevalence of de novo pathogenic variants in Lynch Syndrome is probably underestimated. The de novo pathogenic variant was...
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