Article
A scan of all coding region variants of the human genome, identifies 13q12.2-rs9579139 and 15q24.1-rs2277598 as novel risk loci for pancreatic ductal adenocarcinoma.
Carcinogenesis - 2 Dec 2023
Giaccherini Matteo, Gori Leonardo, Gentiluomo Manuel, Farinella Riccardo, Cervena Klara, Skieceviciene Jurgita, Dijk Frederike, Capurso Gabriele, Vezakis Antonis, Archibugi Livia, Chammas Roger, Hussein Tamás, Tavano Francesca, Hegyi Péter, Lovecek Martin, Izbicki Jakob R, Brenner Hermann, Mohelnikova-Duchonova Beatrice, Dell'Anna Giuseppe, Kupcinskas Juozas, Ermini Stefano, Aoki Mateus Nóbrega, Neoptolemos John P, Gazouli Maria, Pasquali Claudio, Pezzilli Raffaele, Talar-Wojnarowska Renata, Oliverius Martin, Al-Saeedi Mohammed, Lucchesi Maurizio, Furbetta Niccolò, Carrara Silvia, van Eijck Casper H J, Maleckas Almantas, Milanetto Anna Caterina, Lawlor Rita T, Schöttker Ben, Boggi Ugo, Morelli Luca, Ginocchi Laura, Ponz de Leon Pisani Ruggero, Sperti Cosimo, Zerbi Alessandro, Arcidiacono Paolo Giorgio, Uzunoglu Faik G, Bunduc Stefania, Holleczek Bernd, Gioffreda Domenica, Małecka-Wojciesko Ewa, Kiudelis Mindaugas, Szentesi Andrea, van Laarhoven Hanneke W M, Soucek Pavel, Götz Mara, Erőss Bálint, Cavestro Giulia Martina, Basso Daniela, Perri Francesco, Landi Stefano, Canzian Federico, Campa Daniele
Abstract excerpt
Coding sequence variants comprise a small fraction of the germline genetic variability of the human genome. However, they often cause deleterious change in protein function and are therefore associated with pathogenic phenotypes. To identify novel pancreatic ductal adenocarcinoma (PDAC) risk loci, we carried out a complete scan of all common missense and synonymous SNPs and analysed them in a case-control study...
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