Margherita Rimini, Silvia Presi, Giovanni Battista Pipitone, Annalisa Russo Raucci, Francesca Ratti, Angelo Della Corte, Federica Pedica, Giuseppe Vanella, Giovanni Tonon, Valentina Burgio, Francesco Vitiello, Federico Rossari, Elisabeth Amadeo, Maria Giulia Cangi, Lorenza Pecciarini, Paolo Giorgio Arcidiacono, Francesca Falcinelli, Stefano Cascinu, Francesco De Cobelli, Luca Aldrighetti, Maria Grazia Patricelli, Paola Carrera, Andrea Casadei-Gardini
INTRODUCTION: A genetic predisposition seems to be involved in biliary tract cancer, but the prevalence of germline mutations in BTC remains unclear, and the therapeutic role of the germline pathologic variants is still unknown. AREA COVERED: The aim of the present work is to systematically review the data available on the hereditary predisposition of biliary tract cancer by a specific research on PubMed, in order to highlight the most important critical points and to define the current possible role of germinal testing and genetic counseling in this setting of patients...
April 8, 2024: Expert Review of Gastroenterology & Hepatology