Publications

Authors:

Giaccherini, Matteo; Farinella, Riccardo; Gentiluomo, Manuel; Mohelnikova‐duchonova, Beatrice; Kauffmann, Emanuele Federico; Palmeri, Matteo; Uzunoglu, Faik; Soucek, Pavel; Petrauskas, Dalius; Cavestro, Giulia Martina; Zykus, Romanas; Carrara, Silvia; Pezzilli, Raffaele; Puzzono, Marta; Szentesi, Andrea; Neoptolemos, John; Archibugi, Livia; Palmieri, Orazio; Milanetto, Anna Caterina; Capurso, Gabriele; van Eijck, Casper H. J.; Stocker, Hannah; Lawlor, Rita T.; Vodicka, Pavel; Lovecek, Martin; Izbicki, Jakob R.; Perri, Francesco; Kupcinskaite‐noreikiene, Rita; Götz, Mara; Kupcinskas, Juozas; Hussein, Tamás; Hegyi, Péter; Busch, Olivier R.; Hackert, Thilo; Mambrini, Andrea; Brenner, Hermann; Lucchesi, Maurizio; Basso, Daniela; Tavano, Francesca; Schöttker, Ben; Vanella, Giuseppe; Bunduc, Stefania; Petrányi, Ágota; Landi, Stefano; Morelli, Luca; Canzian, Federico; Campa, Daniele

Title:

Association between a polymorphic variant in the CDKN2B‐AS1/ANRIL gene and pancreatic cancer risk

Year:

2022

Type of item:

Articolo in Rivista

Tipologia ANVUR:

Articolo su rivista

Language:

Inglese

Referee:

No

Name of journal:

International Journal of Cancer

ISSN of journal:

0020-7136

N° Volume:

153

Number or Folder:

2

Page numbers:

373-379

Keyword:

association study; genetic susceptibility; pancreatic ductal adenocarcinoma; single nucleotide polymorphisms

Short description of contents:

Genes carrying high-penetrance germline mutations may also be associated with cancer susceptibility through common low-penetrance genetic variants. To increase the knowledge on genetic pancreatic ductal adenocarcinoma (PDAC) aetiology, the common genetic variability of PDAC familial genes was analysed in our study. We conducted a multiphase study analysing 7745 single nucleotide polymorphisms (SNPs) from 29 genes reported to harbour a high-penetrance PDAC-associated mutation in at least one published study. To assess the effect of the SNPs on PDAC risk, a total of 14 666 PDAC cases and 221 897 controls across five different studies were analysed. The T allele of the rs1412832 polymorphism, that is situated in the CDKN2B-AS1/ANRIL, showed a genome-wide significant association with increased risk of developing PDAC (OR = 1.11, 95% CI = 1.07-1.15, P = 5.25 x 10(-9)). CDKN2B-AS1/ANRIL is a long noncoding RNA, situated in 9p21.3, and regulates many target genes, among which CDKN2A (p16) that frequently shows deleterious somatic and germline mutations and deregulation in PDAC. Our results strongly support the role of the genetic variability of the 9p21.3 region in PDAC aetiopathogenesis and highlight the importance of secondary analysis as a tool for discovering new risk loci in complex human diseases.

Product ID:

137768

Handle IRIS:

11562/1119449

Last Modified:

November 2, 2024

Bibliographic citation:

Giaccherini, Matteo; Farinella, Riccardo; Gentiluomo, Manuel; Mohelnikova‐duchonova, Beatrice; Kauffmann, Emanuele Federico; Palmeri, Matteo; Uzunoglu, Faik; Soucek, Pavel; Petrauskas, Dalius; Cavestro, Giulia Martina; Zykus, Romanas; Carrara, Silvia; Pezzilli, Raffaele; Puzzono, Marta; Szentesi, Andrea; Neoptolemos, John; Archibugi, Livia; Palmieri, Orazio; Milanetto, Anna Caterina; Capurso, Gabriele; van Eijck, Casper H. J.; Stocker, Hannah; Lawlor, Rita T.; Vodicka, Pavel; Lovecek, Martin; Izbicki, Jakob R.; Perri, Francesco; Kupcinskaite‐noreikiene, Rita; Götz, Mara; Kupcinskas, Juozas; Hussein, Tamás; Hegyi, Péter; Busch, Olivier R.; Hackert, Thilo; Mambrini, Andrea; Brenner, Hermann; Lucchesi, Maurizio; Basso, Daniela; Tavano, Francesca; Schöttker, Ben; Vanella, Giuseppe; Bunduc, Stefania; Petrányi, Ágota; Landi, Stefano; Morelli, Luca; Canzian, Federico; Campa, Daniele, Association between a polymorphic variant in the CDKN2B‐AS1/ANRIL gene and pancreatic cancer risk «International Journal of Cancer» , vol. 153 , n. 2 , 2022 , pp. 373-379

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