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A germline variant in the TP53 polyadenylation signal confers cancer susceptibility.
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2011 (English)In: Nature Genetics, ISSN 1061-4036, E-ISSN 1546-1718, Vol. 43, no 11, 1098-103 p.Article in journal (Refereed) Published
Abstract [en]

To identify new risk variants for cutaneous basal cell carcinoma, we performed a genome-wide association study of 16 million SNPs identified through whole-genome sequencing of 457 Icelanders. We imputed genotypes for 41,675 Illumina SNP chip-typed Icelanders and their relatives. In the discovery phase, the strongest signal came from rs78378222[C] (odds ratio (OR) = 2.36, P = 5.2 × 10(-17)), which has a frequency of 0.0192 in the Icelandic population. We then confirmed this association in non-Icelandic samples (OR = 1.75, P = 0.0060; overall OR = 2.16, P = 2.2 × 10(-20)). rs78378222 is in the 3' untranslated region of TP53 and changes the AATAAA polyadenylation signal to AATACA, resulting in impaired 3'-end processing of TP53 mRNA. Investigation of other tumor types identified associations of this SNP with prostate cancer (OR = 1.44, P = 2.4 × 10(-6)), glioma (OR = 2.35, P = 1.0 × 10(-5)) and colorectal adenoma (OR = 1.39, P = 1.6 × 10(-4)). However, we observed no effect for breast cancer, a common Li-Fraumeni syndrome tumor (OR = 1.06, P = 0.57, 95% confidence interval 0.88-1.27).

Place, publisher, year, edition, pages
2011. Vol. 43, no 11, 1098-103 p.
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Clinical Medicine
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URN: urn:nbn:se:uu:diva-246272DOI: 10.1038/ng.926PubMedID: 21946351OAI: oai:DiVA.org:uu-246272DiVA: diva2:792594
Available from: 2015-03-04 Created: 2015-03-04 Last updated: 2017-12-04

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