Germline testing and genetic counselling in biliary tract cancer: an operative proposal to improve the state of art.
Margherita RiminiSilvia PresiGiovanni Battista PipitoneAnnalisa Russo RaucciFrancesca RattiAngelo Della CorteFederica PedicaGiuseppe VanellaGiovanni TononValentina BurgioFrancesco VitielloFederico RossariElisabeth AmadeoMaria Giulia CangiLorenza PecciariniPaolo Giorgio ArcidiaconoFrancesca FalcinelliStefano CascinuFrancesco De CobelliLuca AldrighettiMaria Grazia PatricelliPaola CarreraStefano CascinuPublished in: Expert review of gastroenterology & hepatology (2024)
Basing on data already available, we decided to start in our institution a specific genetic protocol focused on biliary tract cancer patients, which includes genetic counseling and, if indicated, germline test. The inclusion criteria are: 1) Patient with personal history of oncologic disease other then BTC, 2) Patient with familiar history of oncologic disease (considering relatives of first and second grade), 3) Patient with ≤50 years old, 4) Patient presenting a somatic mutation in genes involved in DNA damage repair pathways and mismatch repair. The aim of the presented protocol is to identify germline pathogenic variants with prophylactic and therapeutic impact, and to collect and integrate a significant amount of clinical, familial, somatic and genetic data.