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000154461 1001_ $$00000-0003-3220-9944$$aCampa, Daniele$$b0
000154461 245__ $$aGenome-wide association study identifies an early onset pancreatic cancer risk locus.
000154461 260__ $$aBognor Regis$$bWiley-Liss$$c2020
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000154461 500__ $$a2020 Oct 15;147(8):2065-2074#LA:C055#
000154461 520__ $$aEarly onset pancreatic cancer (EOPC) is a rare disease with a very high mortality rate. Almost nothing is known on the genetic susceptibility of EOPC, therefore we performed a genome-wide association study (GWAS) to identify novel genetic variants specific for patients diagnosed with pancreatic ductal adenocarcinoma (PDAC) at younger ages. In the first phase, conducted on 821 cases with age of onset ≤60 years, of whom 198 with age of onset ≤50, and 3227 controls from PanScan I-II, we observed four SNPs (rs7155613, rs2328991, rs4891017 and rs12610094) showing an association with EOPC risk (P < 1x10-4 ). We replicated these SNPs in the PANcreatic Disease ReseArch (PANDoRA) consortium and used additional in silico data from PanScan III and PanC4. Among these four variants rs2328991 was significant in an independent set of 855 cases with age of onset ≤60 years, of whom 265 with age of onset≤50, and 4142 controls from the PANDoRA consortium while in the in silico data we observed no statistically significant association. However, the resulting meta-analysis supported the association (P = 1.15x10-4 ). In conclusion we propose a novel variant rs2328991 to be involved in EOPC risk. Even though it was not possible to find a mechanistic link between the variant and the function, the association is supported by a solid statistical significance obtained in the largest study on EOPC genetics present so far in the literature. This article is protected by copyright. All rights reserved.
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000154461 7001_ $$aGentiluomo, Manuel$$b1
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000154461 7001_ $$aBallerini, Alba$$b3
000154461 7001_ $$aVodickova, Ludmila$$b4
000154461 7001_ $$aHegyi, Péter$$b5
000154461 7001_ $$00000-0002-4294-6799$$aSoucek, Pavel$$b6
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000154461 7001_ $$aMilanetto, Anna Caterina$$b8
000154461 7001_ $$aLandi, Stefano$$b9
000154461 7001_ $$aGao, Xin$$b10
000154461 7001_ $$aBozzato, Dania$$b11
000154461 7001_ $$aCapurso, Gabriele$$b12
000154461 7001_ $$00000-0002-8831-7349$$aTavano, Francesca$$b13
000154461 7001_ $$aVashist, Yogesh$$b14
000154461 7001_ $$aHackert, Thilo$$b15
000154461 7001_ $$aBambi, Franco$$b16
000154461 7001_ $$aBursi, Simona$$b17
000154461 7001_ $$aOliverius, Martin$$b18
000154461 7001_ $$aGioffreda, Domenica$$b19
000154461 7001_ $$0P:(DE-He78)c67a12496b8aac150c0eef888d808d46$$aSchöttker, Ben$$b20$$udkfz
000154461 7001_ $$aIvanauskas, Audrius$$b21
000154461 7001_ $$aMohelnikova-Duchonova, Beatrice$$b22
000154461 7001_ $$aDarvasi, Erika$$b23
000154461 7001_ $$aPezzilli, Raffaele$$b24
000154461 7001_ $$aMałecka-Panas, Ewa$$b25
000154461 7001_ $$aStrobel, Oliver$$b26
000154461 7001_ $$00000-0002-3295-6811$$aGazouli, Maria$$b27
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000154461 7001_ $$aSzentesi, Andrea$$b29
000154461 7001_ $$aCavestro, Giulia Martina$$b30
000154461 7001_ $$aFarkas, Gyula$$b31
000154461 7001_ $$aIzbicki, Jakob R$$b32
000154461 7001_ $$aMoz, Stefania$$b33
000154461 7001_ $$aArchibugi, Livia$$b34
000154461 7001_ $$aHlavac, Viktor$$b35
000154461 7001_ $$aVincze, Áron$$b36
000154461 7001_ $$aTalar-Wojnarowska, Renata$$b37
000154461 7001_ $$aRusev, Borislav$$b38
000154461 7001_ $$aKupcinskas, Juozas$$b39
000154461 7001_ $$aGreenhalf, Bill$$b40
000154461 7001_ $$aDijk, Frederike$$b41
000154461 7001_ $$aGiese, Nathalia$$b42
000154461 7001_ $$aBoggi, Ugo$$b43
000154461 7001_ $$aAndriulli, Angelo$$b44
000154461 7001_ $$aBusch, Olivier R$$b45
000154461 7001_ $$aVanella, Giuseppe$$b46
000154461 7001_ $$aVodicka, Pavel$$b47
000154461 7001_ $$aNentwich, Michael$$b48
000154461 7001_ $$aLawlor, Rita T$$b49
000154461 7001_ $$aTheodoropoulos, George E$$b50
000154461 7001_ $$aJamroziak, Krzysztof$$b51
000154461 7001_ $$aZuppardo, Raffaella Alessia$$b52
000154461 7001_ $$aMoletta, Lucia$$b53
000154461 7001_ $$aGinocchi, Laura$$b54
000154461 7001_ $$0P:(DE-He78)4b2dc91c9d1ac33a1c0e0777d0c1697a$$aKaaks, Rudolf$$b55$$udkfz
000154461 7001_ $$aNeoptolemos, John P$$b56
000154461 7001_ $$aLucchesi, Maurizio$$b57
000154461 7001_ $$0P:(DE-He78)5323704270b6393dcea70186ffd86bca$$aCanzian, Federico$$b58$$eLast author$$udkfz
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