Pancreatic cancer-associated gene polymorphisms in a nation-wide cohort of p16-Leiden germline mutation carriers; a case-control study.

Autor:	Potjer TP; Department of Clinical Genetics, Leiden University Medical Center, Albinusdreef 2, 2333 ZA, Leiden, The Netherlands. t.p.potjer@lumc.nl., van der Stoep N; Department of Clinical Genetics, Leiden University Medical Center, Albinusdreef 2, 2333 ZA, Leiden, The Netherlands. n.van_der_stoep@lumc.nl., Houwing-Duistermaat JJ; Department of Medical Statistics and Bioinformatics, Leiden University Medical Center, Leiden, The Netherlands. J.J.Houwing@lumc.nl., Konings IC; Department of Gastroenterology and Hepatology,Erasmus MC, University Medical Center, Rotterdam, The Netherlands. i.konings@erasmusmc.nl., Aalfs CM; Department of Clinical Genetics, Academic Medical Center, Amsterdam, The Netherlands. c.m.aalfs@amc.uva.nl., van den Akker PC; Department of Genetics, University of Groningen, University Medical Center Groningen, Groningen, The Netherlands. p.c.van.den.akker@umcg.nl., Ausems MG; Department of Medical Genetics, University Medical Center Utrecht, Utrecht, The Netherlands. M.G.E.M.Ausems@umcutrecht.nl., Dommering CJ; Department of Clinical Genetics and Human Genetics, VU University Medical Center, Amsterdam, The Netherlands. CJ.Dommering@vumc.nl., van der Kolk LE; Department of Clinical Genetics, The Netherlands Cancer Institute, Amsterdam, The Netherlands. l.vd.kolk@nki.nl., Maiburg MC; Department of Clinical Genetics, Maastricht University Medical Center, Maastricht, The Netherlands. merel.maiburg@mumc.nl., Spruijt L; Department of Clinical Genetics, Radboud University Medical Centre, Nijmegen, The Netherlands. Liesbeth.Spruijt@radboudumc.nl., Wagner A; Department of Clinical Genetics, Erasmus MC, University Medical Center, Rotterdam, The Netherlands. a.wagner@erasmusmc.nl., Vasen HF; The Netherlands Foundation for the Detection of Hereditary Tumours, Leiden, The Netherlands. hfavasen@stoet.nl., Hes FJ; Department of Clinical Genetics, Leiden University Medical Center, Albinusdreef 2, 2333 ZA, Leiden, The Netherlands. f.j.hes@lumc.nl.
Jazyk:	angličtina
Zdroj:	BMC research notes [BMC Res Notes] 2015 Jun 26; Vol. 8, pp. 264. Date of Electronic Publication: 2015 Jun 26.
DOI:	10.1186/s13104-015-1235-4
Abstrakt:	Background: The p16-Leiden founder mutation in the CDKN2A gene is the most common cause of Familial Atypical Multiple Mole Melanoma (FAMMM) syndrome in the Netherlands. Individuals with this mutation are at increased risk for developing melanoma of the skin, as well as pancreatic cancer. However, there is a notable interfamilial variability in the occurrence of pancreatic cancer among p16-Leiden families. We aimed to test whether previously identified genetic risk factors for pancreatic cancer modify the risk for pancreatic cancer in p16-Leiden germline mutation carriers. Methods: Seven pancreatic cancer-associated SNPs were selected from the literature and were genotyped in a cohort of 185 p16-Leiden germline mutation carriers from 88 families, including 50 cases (median age 55 years) with pancreatic cancer and 135 controls (median age 64 years) without pancreatic cancer. Allelic odds ratios per SNP were calculated. Results: No significant association with pancreatic cancer was found for any of the seven SNPs. Conclusions: Since genetic modifiers for developing melanoma have already been identified in CDKN2A mutation carriers, this study does not exclude that genetic modifiers do not play a role in the individual pancreatic cancer risk in this cohort of p16-Leiden germline mutation carriers. The search for these modifiers should therefore continue, because they can potentially facilitate more targeted pancreatic surveillance programs.
Databáze:	MEDLINE
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