@article{3077916,
    title = "Genome-wide association study identifies an early onset pancreatic cancer risk locus",
    author = "Campa, D. and Gentiluomo, M. and Obazee, O. and Ballerini, A. and Vodickova, L. and Hegyi, P. and Soucek, P. and Brenner, H. and Milanetto, A.C. and Landi, S. and Gao, X. and Bozzato, D. and Capurso, G. and Tavano, F. and Vashist, Y. and Hackert, T. and Bambi, F. and Bursi, S. and Oliverius, M. and Gioffreda, D. and Schöttker, B. and Ivanauskas, A. and Mohelnikova-Duchonova, B. and Darvasi, E. and Pezzilli, R. and Małecka-Panas, E. and Strobel, O. and Gazouli, M. and Katzke, V. and Szentesi, A. and Cavestro, G.M. and Farkas, G., Jr. and Izbicki, J.R. and Moz, S. and Archibugi, L. and Hlavac, V. and Vincze, Á. and Talar-Wojnarowska, R. and Rusev, B. and Kupcinskas, J. and Greenhalf, B. and Dijk, F. and Giese, N. and Boggi, U. and Andriulli, A. and Busch, O.R. and Vanella, G. and Vodicka, P. and Nentwich, M. and Lawlor, R.T. and Theodoropoulos, G.E. and Jamroziak, K. and Zuppardo, R.A. and Moletta, L. and Ginocchi, L. and Kaaks, R. and Neoptolemos, J.P. and Lucchesi, M. and Canzian, F.",
    journal = "International Journal  of Cancer",
    year = "2020",
    volume = "147",
    number = "8",
    pages = "2065-2074",
    publisher = "Wiley-Liss, Inc.",
    issn = "0020-7136",
    doi = "10.1002/ijc.33004",
    keywords = "adult;  Article;  cancer risk;  carcinogenesis;  computer model;  controlled study;  early cancer;  female;  gene locus;  genetic association;  genetic background;  genetic variability;  genome-wide association study;  human;  major clinical study;  male;  middle aged;  onset age;  pancreas adenocarcinoma;  pancreas cancer;  priority journal;  single nucleotide polymorphism;  case control study;  genetic predisposition;  genetics;  genome-wide association study;  meta analysis;  pancreas;  pancreas carcinoma;  pancreas tumor;  pathology;  procedures;  risk factor, Carcinoma, Pancreatic Ductal;  Case-Control Studies;  Female;  Genetic Predisposition to Disease;  Genome-Wide Association Study;  Humans;  Male;  Middle Aged;  Pancreas;  Pancreatic Neoplasms;  Polymorphism, Single Nucleotide;  Risk Factors",
    abstract = "Early onset pancreatic cancer (EOPC) is a rare disease with a very high mortality rate. Almost nothing is known on the genetic susceptibility of EOPC, therefore, we performed a genome-wide association study (GWAS) to identify novel genetic variants specific for patients diagnosed with pancreatic ductal adenocarcinoma (PDAC) at younger ages. In the first phase, conducted on 821 cases with age of onset ≤60 years, of whom 198 with age of onset ≤50, and 3227 controls from PanScan I-II, we observed four SNPs (rs7155613, rs2328991, rs4891017 and rs12610094) showing an association with EOPC risk (P < 1 × 10−4). We replicated these SNPs in the PANcreatic Disease ReseArch (PANDoRA) consortium and used additional in silico data from PanScan III and PanC4. Among these four variants rs2328991 was significant in an independent set of 855 cases with age of onset ≤60 years, of whom 265 with age of onset ≤50, and 4142 controls from the PANDoRA consortium while in the in silico data, we observed no statistically significant association. However, the resulting meta-analysis supported the association (P = 1.15 × 10−4). In conclusion, we propose a novel variant rs2328991 to be involved in EOPC risk. Even though it was not possible to find a mechanistic link between the variant and the function, the association is supported by a solid statistical significance obtained in the largest study on EOPC genetics present so far in the literature. © 2020 UICC"
}