Germline BRCA2 K3326X and CHEK2 I157T mutations increase risk for sporadic pancreatic ductal adenocarcinoma: International Journal of Cancer

O Obazee, L Archibugi, A Andriulli, P Soucek, E Małecka-Panas, A Ivanauskas, T Johnson, M Gazouli, T Pausch, RT Lawlor, GM Cavestro, AC Milanetto, M Di Leo, C Pasquali, P Hegyi, A Szentesi, CE Radu, C Gheorghe, GE Theodoropoulos, F BergmannH Brenner, L Vodickova, V Katzke, D Campa, O Strobel, J Kaiser, R Pezzilli, F Federici, B Mohelnikova-Duchonova, U Boggi, R Lemstrova, JS Johansen, SE Bojesen, I Chen, BV Jensen, G Capurso, V Pazienza, C Dervenis, C Sperti, A Mambrini, T Hackert, R Kaaks, D Basso, R Talar-Wojnarowska, E Maiello, JR Izbicki, K Cuk, KU Saum, M Cantore, J Kupcinskas, O Palmieri, G Delle Fave, S Landi, R Salvia, P Fogar, YK Vashist, A Scarpa, P Vodicka, C Tjaden, E Iskierka-Jazdzewska, F Canzian

Research output: Contribution to journalArticlepeer-review

Abstract

Rare truncating BRCA2 K3326X (rs11571833) and pathogenic CHEK2 I157T (rs17879961) variants have previously been implicated in familial pancreatic ductal adenocarcinoma (PDAC), but not in sporadic cases. The effect of both mutations in important DNA repair genes on sporadic PDAC risk may shed light on the genetic architecture of this disease. Both mutations were genotyped in germline DNA from 2,935 sporadic PDAC cases and 5,626 control subjects within the PANcreatic Disease ReseArch (PANDoRA) consortium. Risk estimates were evaluated using multivariate unconditional logistic regression with adjustment for possible confounders such as sex, age and country of origin. Statistical analyses were two-sided with p values
Original languageEnglish
Pages (from-to)686-693
Number of pages8
JournalInt. J. Cancer
Volume145
Issue number3
DOIs
Publication statusPublished - 2019

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