title: The significance of genetics for cholangiocarcinoma development.
abstract: Cholangiocarcinoma (CCA) is a rare malignancy of the liver, arising from bile ducts. The incidence is increasing worldwide, but the prognosis has remained dismal and virtually unchanged in the past 30 years. Although several risk factors have been associated with the development of this cancer, none of them are normally identified in most patients. Diagnosis in advanced stages of the disease and limited therapeutic options contribute to poor survival rates. The recent analysis of genetic and epigenetic alterations occurring in CCA has shed new light in the understanding of the molecular mechanisms leading to the malignant transformation of biliary cells. Further studies in this direction may foster new diagnostic, prognostic and therapeutic approaches. This review provides a global overview of recent advances in CCA and describes the most important genetic mutations and epigenetic alterations so far reported in CCA.
authors.affiliation: 1 Department of Gastroenterology, Università Politecnica delle Marche, Ancona, Italy ; 2 Department of Gastroenterology and Hepatology, Tytgat Institute for Liver and Intestinal Research, Academic Medical Center, University of Amsterdam, Amsterdam, The Netherlands ; 3 Division of Gastroenterology and Hepatology, Department of Internal Medicine III, Medical University of Vienna, Vienna, Austria ; 4 Division of Hepatology and Gastroenterology, Biodonostia Research Institute (Donostia University Hospital), CIBERehd, University of Basque Country, San Sebastián, Spain - IKERBASQUE (Basque Foundation of Science), and "Asociación Española Contra el Cáncer, (AECC)"
authors.forename: Luca
authors.initials: L
authors.lastname: Maroni
authors.affiliation: 1 Department of Gastroenterology, Università Politecnica delle Marche, Ancona, Italy ; 2 Department of Gastroenterology and Hepatology, Tytgat Institute for Liver and Intestinal Research, Academic Medical Center, University of Amsterdam, Amsterdam, The Netherlands ; 3 Division of Gastroenterology and Hepatology, Department of Internal Medicine III, Medical University of Vienna, Vienna, Austria ; 4 Division of Hepatology and Gastroenterology, Biodonostia Research Institute (Donostia University Hospital), CIBERehd, University of Basque Country, San Sebastián, Spain - IKERBASQUE (Basque Foundation of Science), and "Asociación Española Contra el Cáncer, (AECC)"
authors.forename: Irene
authors.initials: I
authors.lastname: Pierantonelli
authors.affiliation: 1 Department of Gastroenterology, Università Politecnica delle Marche, Ancona, Italy ; 2 Department of Gastroenterology and Hepatology, Tytgat Institute for Liver and Intestinal Research, Academic Medical Center, University of Amsterdam, Amsterdam, The Netherlands ; 3 Division of Gastroenterology and Hepatology, Department of Internal Medicine III, Medical University of Vienna, Vienna, Austria ; 4 Division of Hepatology and Gastroenterology, Biodonostia Research Institute (Donostia University Hospital), CIBERehd, University of Basque Country, San Sebastián, Spain - IKERBASQUE (Basque Foundation of Science), and "Asociación Española Contra el Cáncer, (AECC)"
authors.forename: Jesus M
authors.initials: JM
authors.lastname: Banales
authors.affiliation: 1 Department of Gastroenterology, Università Politecnica delle Marche, Ancona, Italy ; 2 Department of Gastroenterology and Hepatology, Tytgat Institute for Liver and Intestinal Research, Academic Medical Center, University of Amsterdam, Amsterdam, The Netherlands ; 3 Division of Gastroenterology and Hepatology, Department of Internal Medicine III, Medical University of Vienna, Vienna, Austria ; 4 Division of Hepatology and Gastroenterology, Biodonostia Research Institute (Donostia University Hospital), CIBERehd, University of Basque Country, San Sebastián, Spain - IKERBASQUE (Basque Foundation of Science), and "Asociación Española Contra el Cáncer, (AECC)"
authors.forename: Antonio
authors.initials: A
authors.lastname: Benedetti
authors.affiliation: 1 Department of Gastroenterology, Università Politecnica delle Marche, Ancona, Italy ; 2 Department of Gastroenterology and Hepatology, Tytgat Institute for Liver and Intestinal Research, Academic Medical Center, University of Amsterdam, Amsterdam, The Netherlands ; 3 Division of Gastroenterology and Hepatology, Department of Internal Medicine III, Medical University of Vienna, Vienna, Austria ; 4 Division of Hepatology and Gastroenterology, Biodonostia Research Institute (Donostia University Hospital), CIBERehd, University of Basque Country, San Sebastián, Spain - IKERBASQUE (Basque Foundation of Science), and "Asociación Española Contra el Cáncer, (AECC)"
authors.forename: Marco
authors.initials: M
authors.lastname: Marzioni
keywords: Genetics; cholangiocarcinoma (CCA)