Genetic susceptibility to pancreatic cancer and its functional characterisation: The PANcreatic Disease ReseArch (PANDoRA) consortium

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• 作者：Daniele Campa^a ; ^b ; ¹ ; ^{d.campa@dkfz.de} ; Cosmeri Rizzato^a ; ¹ ; Gabriele Capurso^b ; ² ; Nathalia Giese^b ; ² ; Niccola Funel^b ; ² ; William Greenhalf^b ; ² ; Pavel Soucek^b ; ² ; Maria Gazouli^b ; ² ; Raffaele Pezzilli^b ; ² ; Claudio Pasquali^b ; ² ; Renata Talar-Wojnarowska^b ; ² ; Maurizio Cantore^b ; ² ; Angelo Andriulli^b ; ¹ ; Aldo Scarpa^b ; ² ; Krzysztof Jamroziak^b ; Gianfranco Delle Fave^b ; Eithne Costello^b ; Kay-Tee Khaw^b ; Anette Heller^b ; Tim J. Key^b ; George Theodoropoulos^b ; Ewa Malecka-Panas^b ; Andrea Mambrini^b ; Franco Bambi^b ; Stefano Landi^b ; Sergio Pedrazzoli^b ; Claudio Bassi^b ; Paola Pacetti^b ; Ada Piepoli^b ; Francesca Tavano^b ; Pierluigi di Sebastiano^b ; Ludmila Vodickova^b ; Daniela Basso^b ; Mario Plebani^b ; Paola Fogar^b ; Markus W. Bü ; chler^b ; Peter Bugert^b ; Pavel Vodicka^b ; Ugo Boggi^b ; John P. Neoptolemos^b ; Jens Werner^b ; Federico Canzian^a ; ^b ; ³ ; ^{f.canzian@dkfz.de}
• 关键词：Cancer susceptibility ; Genetic polymorphisms ; Genetic susceptibility ; Pancreatic cancer
• 刊名：Digestive and Liver Disease
• 出版年：2013
• 出版时间：February, 2013
• 年：2013
• 卷：45
• 期：2
• 页码：95-99
• 全文大小：211 K

文摘

Pancreatic cancer is the fourth leading cause of cancer deaths in the European Union and in the USA, but little is known about its genetic susceptibility. The PANcreatic Disease ReseArch (PANDoRA) consortium was established to unite the efforts of different research groups; its aim is to create a large bio-database to uncover new genetic factors for pancreatic cancer risk, response to treatment, and patient survival. So far 2220 cases of pancreatic adenocarcinoma, a smaller number of cases of endocrine pancreatic tumours (n = 86), chronic pancreatitis (n = 272) and 3847 healthy controls have been collected. As a collective effort of the consortium, SNPs associated with pancreatic adenocarcinoma risk from a genome-wide association study performed in Caucasians were replicated. The possibility that the same genetic polymorphisms may influence patient survival as well was also addressed. This collective effort is particularly important for pancreatic cancer because it is a relatively rare disease for which little is known about aetiopathogenesis and risk factors. The recruitment of additional collaborators and partner institutions is continuously on-going.