De novo germline pathogenic variant in Lynch Syndrome: A rare event or the tip of the iceberg?

In conclusion, the identification of de novo pathogenic variants is crucial to allow proper genetic counseling and appropriate management of the patient's family.PMID:37691472 | DOI:10.1177/03008916231197113

Source: Tumori - September 11, 2023 Category: Cancer & Oncology Authors: Clorinda Brignola Sara Volorio Giovanna De Vecchi Daniela Zaffaroni Valentina Dall'Olio Frederique Mariette Domenico Sardella Fabio Capra Stefano Signoroni Emanuele Rausa Marco Vitellaro Valeria Pensotti Maria Teresa Ricci Source Type: research