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Genome-wide association study identifies an early onset pancreatic cancer risk locus

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Genome-wide association study identifies an early onset pancreatic cancer risk locus. / Campa, Daniele; Gentiluomo, Manuel; Obazee, Ofure; Ballerini, Alba; Vodickova, Ludmila; Hegyi, Péter; Soucek, Pavel; Brenner, Hermann; Milanetto, Anna Caterina; Landi, Stefano; Gao, Xin; Bozzato, Dania; Capurso, Gabriele; Tavano, Francesca; Vashist, Yogesh; Hackert, Thilo; Bambi, Franco; Bursi, Simona; Oliverius, Martin; Gioffreda, Domenica; Schöttker, Ben; Ivanauskas, Audrius; Mohelnikova-Duchonova, Beatrice; Darvasi, Erika; Pezzilli, Raffaele; Małecka-Panas, Ewa; Strobel, Oliver; Gazouli, Maria; Katzke, Verena; Szentesi, Andrea; Cavestro, Giulia Martina; Farkas, Gyula; Izbicki, Jakob R; Moz, Stefania; Archibugi, Livia; Hlavac, Viktor; Vincze, Áron; Talar-Wojnarowska, Renata; Rusev, Borislav; Kupcinskas, Juozas; Greenhalf, Bill; Dijk, Frederike; Giese, Nathalia; Boggi, Ugo; Andriulli, Angelo; Busch, Olivier R; Vanella, Giuseppe; Vodicka, Pavel; Nentwich, Michael; Lawlor, Rita T; Theodoropoulos, George E; Jamroziak, Krzysztof; Zuppardo, Raffaella Alessia; Moletta, Lucia; Ginocchi, Laura; Kaaks, Rudolf; Neoptolemos, John P; Lucchesi, Maurizio; Canzian, Federico.

in: INT J CANCER, Jahrgang 147, Nr. 8, 15.10.2020, S. 2065-2074.

Publikationen: SCORING: Beitrag in Fachzeitschrift/Zeitung › SCORING: Zeitschriftenaufsatz › Forschung › Begutachtung

Harvard

Campa, D, Gentiluomo, M, Obazee, O, Ballerini, A, Vodickova, L, Hegyi, P, Soucek, P, Brenner, H, Milanetto, AC, Landi, S, Gao, X, Bozzato, D, Capurso, G, Tavano, F, Vashist, Y, Hackert, T, Bambi, F, Bursi, S, Oliverius, M, Gioffreda, D, Schöttker, B, Ivanauskas, A, Mohelnikova-Duchonova, B, Darvasi, E, Pezzilli, R, Małecka-Panas, E, Strobel, O, Gazouli, M, Katzke, V, Szentesi, A, Cavestro, GM, Farkas, G, Izbicki, JR, 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, OR, Vanella, G, Vodicka, P, Nentwich, M, Lawlor, RT, Theodoropoulos, GE, Jamroziak, K, Zuppardo, RA, Moletta, L, Ginocchi, L, Kaaks, R, Neoptolemos, JP, Lucchesi, M & Canzian, F 2020, 'Genome-wide association study identifies an early onset pancreatic cancer risk locus', INT J CANCER, Jg. 147, Nr. 8, S. 2065-2074. https://doi.org/10.1002/ijc.33004

APA

Campa, D., Gentiluomo, M., Obazee, O., Ballerini, A., Vodickova, L., Hegyi, P., Soucek, P., Brenner, H., Milanetto, A. C., Landi, S., Gao, X., Bozzato, D., Capurso, G., Tavano, F., Vashist, Y., Hackert, T., Bambi, F., Bursi, S., Oliverius, M., ... Canzian, F. (2020). Genome-wide association study identifies an early onset pancreatic cancer risk locus. INT J CANCER, 147(8), 2065-2074. https://doi.org/10.1002/ijc.33004

Vancouver

Campa D, Gentiluomo M, Obazee O, Ballerini A, Vodickova L, Hegyi P et al. Genome-wide association study identifies an early onset pancreatic cancer risk locus. INT J CANCER. 2020 Okt 15;147(8):2065-2074. https://doi.org/10.1002/ijc.33004

Bibtex

@article{056706a169744fb79fa283f18029b2d5,
title = "Genome-wide association study identifies an early onset pancreatic cancer risk locus",
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.",
author = "Daniele Campa and Manuel Gentiluomo and Ofure Obazee and Alba Ballerini and Ludmila Vodickova and P{\'e}ter Hegyi and Pavel Soucek and Hermann Brenner and Milanetto, {Anna Caterina} and Stefano Landi and Xin Gao and Dania Bozzato and Gabriele Capurso and Francesca Tavano and Yogesh Vashist and Thilo Hackert and Franco Bambi and Simona Bursi and Martin Oliverius and Domenica Gioffreda and Ben Sch{\"o}ttker and Audrius Ivanauskas and Beatrice Mohelnikova-Duchonova and Erika Darvasi and Raffaele Pezzilli and Ewa Ma{\l}ecka-Panas and Oliver Strobel and Maria Gazouli and Verena Katzke and Andrea Szentesi and Cavestro, {Giulia Martina} and Gyula Farkas and Izbicki, {Jakob R} and Stefania Moz and Livia Archibugi and Viktor Hlavac and {\'A}ron Vincze and Renata Talar-Wojnarowska and Borislav Rusev and Juozas Kupcinskas and Bill Greenhalf and Frederike Dijk and Nathalia Giese and Ugo Boggi and Angelo Andriulli and Busch, {Olivier R} and Giuseppe Vanella and Pavel Vodicka and Michael Nentwich and Lawlor, {Rita T} and Theodoropoulos, {George E} and Krzysztof Jamroziak and Zuppardo, {Raffaella Alessia} and Lucia Moletta and Laura Ginocchi and Rudolf Kaaks and Neoptolemos, {John P} and Maurizio Lucchesi and Federico Canzian",
note = "{\textcopyright} 2020 UICC.",
year = "2020",
month = oct,
day = "15",
doi = "10.1002/ijc.33004",
language = "English",
volume = "147",
pages = "2065--2074",
journal = "INT J CANCER",
issn = "0020-7136",
publisher = "Wiley-Liss Inc.",
number = "8",

}

RIS

TY - JOUR

T1 - Genome-wide association study identifies an early onset pancreatic cancer risk locus

AU - Campa, Daniele

AU - Gentiluomo, Manuel

AU - Obazee, Ofure

AU - Ballerini, Alba

AU - Vodickova, Ludmila

AU - Hegyi, Péter

AU - Soucek, Pavel

AU - Brenner, Hermann

AU - Milanetto, Anna Caterina

AU - Landi, Stefano

AU - Gao, Xin

AU - Bozzato, Dania

AU - Capurso, Gabriele

AU - Tavano, Francesca

AU - Vashist, Yogesh

AU - Hackert, Thilo

AU - Bambi, Franco

AU - Bursi, Simona

AU - Oliverius, Martin

AU - Gioffreda, Domenica

AU - Schöttker, Ben

AU - Ivanauskas, Audrius

AU - Mohelnikova-Duchonova, Beatrice

AU - Darvasi, Erika

AU - Pezzilli, Raffaele

AU - Małecka-Panas, Ewa

AU - Strobel, Oliver

AU - Gazouli, Maria

AU - Katzke, Verena

AU - Szentesi, Andrea

AU - Cavestro, Giulia Martina

AU - Farkas, Gyula

AU - Izbicki, Jakob R

AU - Moz, Stefania

AU - Archibugi, Livia

AU - Hlavac, Viktor

AU - Vincze, Áron

AU - Talar-Wojnarowska, Renata

AU - Rusev, Borislav

AU - Kupcinskas, Juozas

AU - Greenhalf, Bill

AU - Dijk, Frederike

AU - Giese, Nathalia

AU - Boggi, Ugo

AU - Andriulli, Angelo

AU - Busch, Olivier R

AU - Vanella, Giuseppe

AU - Vodicka, Pavel

AU - Nentwich, Michael

AU - Lawlor, Rita T

AU - Theodoropoulos, George E

AU - Jamroziak, Krzysztof

AU - Zuppardo, Raffaella Alessia

AU - Moletta, Lucia

AU - Ginocchi, Laura

AU - Kaaks, Rudolf

AU - Neoptolemos, John P

AU - Lucchesi, Maurizio

AU - Canzian, Federico

N1 - © 2020 UICC.

PY - 2020/10/15

Y1 - 2020/10/15

N2 - 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.

AB - 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.

U2 - 10.1002/ijc.33004

DO - 10.1002/ijc.33004

M3 - SCORING: Journal article

C2 - 32270874

VL - 147

SP - 2065

EP - 2074

JO - INT J CANCER

JF - INT J CANCER

SN - 0020-7136

IS - 8

ER -