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https://hdl.handle.net/2440/93695
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Type: | Journal article |
Title: | Identification and molecular characterization of a new ovarian cancer susceptibility locus at 17q21.31 |
Author: | Permuth-Wey, J. Lawrenson, K. Shen, H. Velkova, A. Tyrer, J. Chen, Z. Lin, H. Ann Chen, Y. Tsai, Y. Qu, X. Ramus, S. Karevan, R. Lee, J. Lee, N. Larson, M. Aben, K. Anton-Culver, H. Antonenkova, N. Antoniou, A. Armasu, S. et al. |
Citation: | Nature Communications, 2013; 4(1):1627-1-1627-12 |
Publisher: | Nature Publishing Group |
Issue Date: | 2013 |
ISSN: | 2041-1723 2041-1723 |
Statement of Responsibility: | Jennifer Permuth-Wey ... Australian Cancer Study, Australian Ovarian Cancer Study ... Consortium of Investigators of Modifiers of BRCA1/2 ... et al. |
Abstract: | Epithelial ovarian cancer (EOC) has a heritable component that remains to be fully characterized. Most identified common susceptibility variants lie in non-protein-coding sequences. We hypothesized that variants in the 3′ untranslated region at putative microRNA (miRNA)-binding sites represent functional targets that influence EOC susceptibility. Here, we evaluate the association between 767 miRNA-related single-nucleotide polymorphisms (miRSNPs) and EOC risk in 18,174 EOC cases and 26,134 controls from 43 studies genotyped through the Collaborative Oncological Gene–environment Study. We identify several miRSNPs associated with invasive serous EOC risk (odds ratio=1.12, P=10−8) mapping to an inversion polymorphism at 17q21.31. Additional genotyping of non-miRSNPs at 17q21.31 reveals stronger signals outside the inversion (P=10−10). Variation at 17q21.31 is associated with neurological diseases, and our collaboration is the first to report an association with EOC susceptibility. An integrated molecular analysis in this region provides evidence for ARHGAP27 and PLEKHM1 as candidate EOC susceptibility genes. |
Keywords: | Australian Cancer Study Australian Ovarian Cancer Study Consortium of Investigators of Modifiers of BRCA1/2 Chromosomes, Human, Pair 17 Humans Neoplasms, Glandular and Epithelial Ovarian Neoplasms Genetic Predisposition to Disease Polymorphism, Single Nucleotide Female Carcinoma, Ovarian Epithelial |
Description: | Martin K. Oehler is a member of the Australian Ovarian Cancer Study |
Rights: | © 2013 Macmillan Publishers Limited. All rights reserved. This work is licensed under a Creative Commons Attribution-NonCommercial-NoDerivs 3.0 Unported License. To view a copy of this license, visit http://creativecommons.org/licenses/by-nc-nd/3.0/ |
DOI: | 10.1038/ncomms2613 |
Published version: | http://dx.doi.org/10.1038/ncomms2613 |
Appears in Collections: | Aurora harvest 7 Medicine publications |
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hdl_93695.pdf | Published version | 1.23 MB | Adobe PDF | View/Open |
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