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Genome-wide association analysis identifies three new breast cancer susceptibility loci
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(2012) Genome-wide association analysis identifies three new breast cancer susceptibility loci. Nature Genetics, Vol.44 (No.3). pp. 312-318. doi:10.1038/ng.1049 ISSN 1061-4036.
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Official URL: http://dx.doi.org/10.1038/ng.1049
Abstract
Breast cancer is the most common cancer among women. To date, 22 common breast cancer susceptibility loci have been identified accounting for g1/48% of the heritability of the disease. We attempted to replicate 72 promising associations from two independent genome-wide association studies (GWAS) in g1/470,000 cases and ĝ̂1/468,000 controls from 41 case-control studies and 9 breast cancer GWAS. We identified three new breast cancer risk loci at 12p11 (rs10771399; P = 2.7 - 10 g 35), 12q24 (rs1292011; P = 4.3 - 10 g 19) and 21q21 (rs2823093; P = 1.1 - 10 g 12). rs10771399 was associated with similar relative risks for both estrogen receptor (ER)-negative and ER-positive breast cancer, whereas the other two loci were associated only with ER-positive disease. Two of the loci lie in regions that contain strong plausible candidate genes: PTHLH (12p11) has a crucial role in mammary gland development and the establishment of bone metastasis in breast cancer, and NRIP1 (21q21) encodes an ER cofactor and has a role in the regulation of breast cancer cell growth. © 2012 Nature America, Inc. All rights reserved.
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 | ||||
Journal or Publication Title: | Nature Genetics | ||||
Publisher: | Nature Publishing Group | ||||
ISSN: | 1061-4036 | ||||
Official Date: | March 2012 | ||||
Dates: |
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Volume: | Vol.44 | ||||
Number: | No.3 | ||||
Page Range: | pp. 312-318 | ||||
DOI: | 10.1038/ng.1049 | ||||
Status: | Peer Reviewed | ||||
Publication Status: | Published | ||||
Access rights to Published version: | Restricted or Subscription Access |
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