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Fine scale mapping of the 17q22 breast cancer locus using dense SNPs, genotyped within the Collaborative Oncological Gene-Environment Study (COGs)
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(2016) Fine scale mapping of the 17q22 breast cancer locus using dense SNPs, genotyped within the Collaborative Oncological Gene-Environment Study (COGs). Scientific Reports, 6 . 32512 . doi:10.1038/srep32512 ISSN 2045-2322.
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Official URL: http://doi.org/10.1038/srep32512
Abstract
Genome-wide association studies have found SNPs at 17q22 to be associated with breast cancer risk. To identify potential causal variants related to breast cancer risk, we performed a high resolution fine-mapping analysis that involved genotyping 517 SNPs using a custom Illumina iSelect array (iCOGS) followed by imputation of genotypes for 3,134 SNPs in more than 89,000 participants of European ancestry from the Breast Cancer Association Consortium (BCAC). We identified 28 highly correlated common variants, in a 53 Kb region spanning two introns of the STXBP4 gene, that are strong candidates for driving breast cancer risk (lead SNP rs2787486 (OR = 0.92; CI 0.90–0.94; P = 8.96 × 10−15)) and are correlated with two previously reported risk-associated variants at this locus, SNPs rs6504950 (OR = 0.94, P = 2.04 × 10−09, r2 = 0.73 with lead SNP) and rs1156287 (OR = 0.93, P = 3.41 × 10−11, r2 = 0.83 with lead SNP). Analyses indicate only one causal SNP in the region and several enhancer elements targeting STXBP4 are located within the 53 kb association signal. Expression studies in breast tumor tissues found SNP rs2787486 to be associated with increased STXBP4 expression, suggesting this may be a target gene of this locus.
| Item Type: | Journal Article | ||||||||
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| Subjects: | R Medicine > RC Internal medicine > RC0254 Neoplasms. Tumors. Oncology (including Cancer) | ||||||||
| Divisions: | Faculty of Science, Engineering and Medicine > Medicine > Warwick Medical School > Health Sciences Faculty of Science, Engineering and Medicine > Medicine > Warwick Medical School |
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| SWORD Depositor: | Library Publications Router | ||||||||
| Library of Congress Subject Headings (LCSH): | Breast -- Cancer -- Genetic aspects -- Research | ||||||||
| Journal or Publication Title: | Scientific Reports | ||||||||
| Publisher: | Nature Publishing Group | ||||||||
| ISSN: | 2045-2322 | ||||||||
| Official Date: | 7 September 2016 | ||||||||
| Dates: |
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| Volume: | 6 | ||||||||
| Article Number: | 32512 | ||||||||
| DOI: | 10.1038/srep32512 | ||||||||
| Status: | Peer Reviewed | ||||||||
| Publication Status: | Published | ||||||||
| Access rights to Published version: | Open Access (Creative Commons) | ||||||||
| Date of first compliant deposit: | 28 February 2017 | ||||||||
| Date of first compliant Open Access: | 28 February 2017 | ||||||||
| Funder: | Breast Cancer Now, Institute of Cancer Research: Royal Cancer Hospital, Great Britain. National Health Service (NHS), Seventh Framework Programme (European Commission) (FP7), Cancer Research UK (CRUK), National Institutes of Health (U.S.) (NIH), United States. Department of Defense (DoD) | ||||||||
| Grant number: | 223175 (HEALTH-F2-2009-223175) (COGS) (FP7), C1287/A10118, C1287/A 10710, C12292/A11174, C1281/A12014, C5047/A8384, C5047/A15007, C5047/A10692, C8197/A16565 (CRUK), 1U19 CA148537, 1U19 CA148065 and 1U19 CA148112 - the GAME-ON initiative (NIH) |
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