Journal Article

DKFZ-2020-00783

http://join2-wiki.gsi.de/foswiki/pub/Main/Artwork/join2_logo100x88.png Genome-wide association study identifies an early onset pancreatic cancer risk locus.

Campa, D. ; Gentiluomo, M. ; Obazee, O. M. A.DKFZ* ; Ballerini, A. ; Vodickova, L. ; Hegyi, P. ; Soucek, P. ; Brenner, H.DKFZ* ; Milanetto, A. C. ; Landi, S. ; Gao, X. ; Bozzato, D. ; Capurso, G. ; Tavano, F. ; Vashist, Y. ; Hackert, T. ; Bambi, F. ; Bursi, S. ; Oliverius, M. ; Gioffreda, D. ; Schöttker, B.DKFZ* ; Ivanauskas, A. ; Mohelnikova-Duchonova, B. ; Darvasi, E. ; Pezzilli, R. ; Małecka-Panas, E. ; Strobel, O. ; Gazouli, M. ; Katzke, V.DKFZ* ; Szentesi, A. ; Cavestro, G. M. ; Farkas, G. ; Izbicki, J. R. ; Moz, S. ; Archibugi, L. ; Hlavac, V. ; Vincze, Á. ; Talar-Wojnarowska, R. ; Rusev, B. ; Kupcinskas, J. ; Greenhalf, B. ; Dijk, F. ; Giese, N. ; Boggi, U. ; Andriulli, A. ; Busch, O. R. ; Vanella, G. ; Vodicka, P. ; Nentwich, M. ; Lawlor, R. T. ; Theodoropoulos, G. E. ; Jamroziak, K. ; Zuppardo, R. A. ; Moletta, L. ; Ginocchi, L. ; Kaaks, R.DKFZ* ; Neoptolemos, J. P. ; Lucchesi, M. ; Canzian, F. (Last author)DKFZ*

2020
Wiley-Liss Bognor Regis

This record in other databases:  

Please use a persistent id in citations: doi:10.1002/ijc.33004

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 < 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.

Note: 2020 Oct 15;147(8):2065-2074#LA:C055#

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Contributing Institute(s):

1. C055 Genomische Epidemiologie (C055)
2. C070 Klinische Epidemiologie und Alternf. (C070)
3. Präventive Onkologie (C120)
4. DKTK HD zentral (HD01)
5. C020 Epidemiologie von Krebs (C020)

Research Program(s):

1. 313 - Cancer risk factors and prevention (POF3-313) (POF3-313)

Appears in the scientific report 2020

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Database coverage:
; BIOSIS Previews ; Clarivate Analytics Master Journal List ; Current Contents - Life Sciences ; IF >= 5 ; JCR ; NCBI Molecular Biology Database ; Nationallizenz ; SCOPUS ; Science Citation Index ; Science Citation Index Expanded ; Web of Science Core Collection

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