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

Autor: Thomas P. Potjer, Jeanine J. Houwing-Duistermaat, Frederik J. Hes, Hans F. A. Vasen, Charlotte J. Dommering, Ingrid C. Konings, Margreet G. E. M. Ausems, Peter C. van den Akker, Liesbeth Spruijt, Merel C. Maiburg, Nienke van der Stoep, Cora M. Aalfs, Anja Wagner, Lizet E. van der Kolk
Přispěvatelé: Human genetics, CCA - Oncogenesis, Translational Immunology Groningen (TRIGR), Clinical sciences, Other departments, Human Genetics
Rok vydání: 2015
Předmět:
Male
Oncology
Skin Neoplasms
Tumours of the digestive tract Radboud Institute for Health Sciences [Radboudumc 14]
CDKN2A
hemic and lymphatic diseases
Germline mutation
Odds Ratio
risk factors
Melanoma
Netherlands
Medicine(all)
Genetics
Pancreatic Neoplasms/complications
General Medicine
Middle Aged
Pedigree
FAMMM syndrome
Mutation (genetic algorithm)
Female
Research Article
Rare cancers Radboud Institute for Health Sciences [Radboudumc 9]
Adult
p16-Leiden
Heterozygote
medicine.medical_specialty
Single-nucleotide polymorphism
Case-control studies
Biology
Polymorphism
Single Nucleotide
General Biochemistry
Genetics and Molecular Biology
Cyclin-Dependent Kinase Inhibitor p16/genetics
Pancreatic cancer
Internal medicine
medicine
Humans
Allele
Cyclin-Dependent Kinase Inhibitor p16
Alleles
Dysplastic Nevus Syndrome/complications
Germ-Line Mutation
Aged
Biochemistry
Genetics and Molecular Biology(all)
Modifiers
Case-control study
Single nucleotide polymorphisms
Melanoma/complications
medicine.disease
Skin Neoplasms/complications
Pancreatic Neoplasms
aged
80 and over
Dysplastic Nevus Syndrome
Zdroj: BMC Research Notes, 8, pp. 264
BMC Research Notes, 8:264. BioMed Central
BMC Research Notes, 8:264. BioMed Central Ltd.
Potjer, T P, van der Stoep, N, Houwing-Duistermaat, J J, Konings, I C A W, Aalfs, C M, van den Akker, P C, Ausems, M G, Dommering, C J, van der Kolk, L E, Maiburg, M C, Spruijt, L, Wagner, A, Vasen, H F A & Hes, F J 2015, ' Pancreatic cancer-associated gene polymorphisms in a nation-wide cohort of p16-Leiden germline mutation carriers; a case–control study ', BMC Research Notes, vol. 8, 264 . https://doi.org/10.1186/s13104-015-1235-4
BMC Research Notes, 8, 264
BMC Research Notes
BMC research notes, 8. BioMed Central
ISSN: 1756-0500
DOI: 10.1186/s13104-015-1235-4
Popis: Contains fulltext : 153585.pdf (Publisher’s version ) (Open Access) 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: OpenAIRE
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