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Colorectal cancer risk variants at 8q23.3 and 11q23.1 are associated with disease phenotype in APC mutation carriers

التفاصيل البيبلوغرافية
العنوان: Colorectal cancer risk variants at 8q23.3 and 11q23.1 are associated with disease phenotype in APC mutation carriers
المؤلفون: Jeanine J. Houwing-Duistermaat, Rolf H. Sijmons, Cora M. Aalfs, Nicoline Hoogerbrugge, Marry H. Nieuwenhuis, E. B. Gomez Garcia, Carli M. J. Tops, T. van Wezel, Senno Verhoef, Zeinab Ghorbanoghli, Fred H. Menko, Frederik J. Hes, Tom G.W. Letteboer, Hans F. A. Vasen, Shantie Jagmohan-Changur, Anja Wagner, Juul T. Wijnen
المساهمون: Guided Treatment in Optimal Selected Cancer Patients (GUTS), Human Genetics, Clinical Genetics, Faculty of Medicine and Pharmacy, Clinical sciences, Faculty of Economic and Social Sciences and Solvay Business School, Faculty of Psychology and Educational Sciences, Promovendi NTM, RS: GROW - R4 - Reproductive and Perinatal Medicine, MUMC+: DA KG Polikliniek (9), Klinische Genetica
المصدر: Familial Cancer, 15(4), 563-570. SPRINGER
Familial Cancer, 15(4), 563–570. Springer Netherlands
Familial cancer, 15(4), 563-570. Springer Netherlands
Familial Cancer
Familial Cancer, 15(4), 563-570. Springer Netherlands
Familial Cancer, 15, 4, pp. 563-70
Familial Cancer, 15, 563-70
Familial Cancer, 15(4), 563-570. Springer, Cham
سنة النشر: 2016
مصطلحات موضوعية: Male, 0301 basic medicine, Cancer Research, Genome-wide association study, 0302 clinical medicine, Gene Frequency, GENETIC-VARIANTS, Genotype, Tumours of the digestive tract Radboud Institute for Molecular Life Sciences [Radboudumc 14], Genetics(clinical), Cancer genetics, Genetics (clinical), Medicine(all), Genetics, Familial adenomatous polyposis, REFINEMENT, LYNCH SYNDROME, Adenomatous Polyposis Coli/genetics, Lynch syndrome, Adenomatous Polyposis Coli, Oncology, 030220 oncology & carcinogenesis, Original Article, Colorectal Neoplasms, Chromosomes, Human, Pair 8, Adenoma, Adult, SUSCEPTIBILITY LOCI, Adenomatous Polyposis Coli Protein, Single-nucleotide polymorphism, Genetic polymorphisms, Polymorphism, Single Nucleotide, 03 medical and health sciences, Germline mutation, SDG 3 - Good Health and Well-being, MODIFIER GENES, medicine, Journal Article, Humans, Genetic Predisposition to Disease, Adenomatous Polyposis Coli Protein/genetics, Allele, GENOME-WIDE ASSOCIATION, Allele frequency, business.industry, Chromosomes, Human, Pair 11, FAP, ALLELES, medicine.disease, Adenoma/genetics, Colorectal Neoplasms/genetics, digestive system diseases, 030104 developmental biology, SEVERITY, Mutation, Colonic adenomas, business, Genome-Wide Association Study
الوصف: Contains fulltext : 167193.pdf (Publisher’s version ) (Open Access) Familial adenomatous polyposis (FAP) is a dominantly inherited syndrome caused by germline mutations in the APC gene and characterized by the development of multiple colorectal adenomas and a high risk of developing colorectal cancer (CRC). The severity of polyposis is correlated with the site of the APC mutation. However, there is also phenotypic variability within families with the same underlying APC mutation, suggesting that additional factors influence the severity of polyposis. Genome-wide association studies identified several single nucleotide polymorphisms (SNPs) that are associated with CRC. We assessed whether these SNPs are associated with polyp multiplicity in proven APC mutation carriers. Sixteen CRC-associated SNPs were analysed in a cohort of 419 APC germline mutation carriers from 182 families. Clinical data were retrieved from the Dutch Polyposis Registry. Allele frequencies of the SNPs were compared for patients with /=100 adenomas, using generalized estimating equations with the APC genotype as a covariate. We found a trend of association of two of the tested SNPs with the >/=100 adenoma phenotype: the C alleles of rs16892766 at 8q23.3 (OR 1.71, 95 % CI 1.05-2.76, p = 0.03, dominant model) and rs3802842 at 11q23.1 (OR 1.51, 95 % CI 1.03-2.22, p = 0.04, dominant model). We identified two risk variants that are associated with a more severe phenotype in APC mutation carriers. These risk variants may partly explain the phenotypic variability in families with the same APC gene defect. Further studies with a larger sample size are recommended to evaluate and confirm the phenotypic effect of these SNPs in FAP.
وصف الملف: image/pdf; application/pdf
اللغة: English
تدمد: 1389-9600
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::54b02251738806fa5aa1f1a8ee1d1856
https://dspace.library.uu.nl/handle/1874/346538
حقوق: OPEN
رقم الأكسشن: edsair.doi.dedup.....54b02251738806fa5aa1f1a8ee1d1856
قاعدة البيانات: OpenAIRE
الوصف
تدمد:13899600