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9q31.2-rs865686 as a Susceptibility Locus for Estrogen Receptor-Positive Breast Cancer : evidence from the Breast Cancer Association Consortium
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Breast Cancer Association Consortium (Including:
). (2012) 9q31.2-rs865686 as a Susceptibility Locus for Estrogen Receptor-Positive Breast Cancer : evidence from the Breast Cancer Association Consortium. Cancer Epidemiology Biomarkers & Prevention, Vol. 21 (No. 10). pp. 1783-1791. doi:10.1158/1055-9965.EPI-12-0526 ISSN 1055-9965.Research output not available from this repository.
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Official URL: http://dx.doi.org/10.1158/1055-9965.EPI-12-0526
Abstract
Background:
Our recent genome-wide association study identified a novel breast cancer susceptibility locus at 9q31.2 (rs865686).
Methods:
To further investigate the rs865686–breast cancer association, we conducted a replication study within the Breast Cancer Association Consortium, which comprises 37 case–control studies (48,394 cases, 50,836 controls).
Results:
This replication study provides additional strong evidence of an inverse association between rs865686 and breast cancer risk [study-adjusted per G-allele OR, 0.90; 95% confidence interval (CI), 0.88; 0.91, P = 2.01 × 10−29] among women of European ancestry. There were ethnic differences in the estimated minor (G)-allele frequency among controls [0.09, 0.30, and 0.38 among, respectively, Asians, Eastern Europeans, and other Europeans; P for heterogeneity (Phet) = 1.3 × 10−143], but no evidence of ethnic differences in per allele OR (Phet = 0.43). rs865686 was associated with estrogen receptor–positive (ER+) disease (per G-allele OR, 0.89; 95% CI, 0.86–0.91; P = 3.13 × 10−22) but less strongly, if at all, with ER-negative (ER−) disease (OR, 0.98; 95% CI, 0.94–1.02; P = 0.26; Phet = 1.16 × 10−6), with no evidence of independent heterogeneity by progesterone receptor or HER2 status. The strength of the breast cancer association decreased with increasing age at diagnosis, with case-only analysis showing a trend in the number of copies of the G allele with increasing age at diagnosis (P for linear trend = 0.0095), but only among women with ER+ tumors.
Conclusions:
This study is the first to show that rs865686 is a susceptibility marker for ER+ breast cancer.
Item Type: | Journal Article | ||||
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Divisions: | Faculty of Science, Engineering and Medicine > Medicine > Warwick Medical School > Health Sciences Faculty of Science, Engineering and Medicine > Medicine > Warwick Medical School > Health Sciences > Mental Health and Wellbeing Faculty of Science, Engineering and Medicine > Medicine > Warwick Medical School |
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Journal or Publication Title: | Cancer Epidemiology Biomarkers & Prevention | ||||
Publisher: | American Association for Cancer Research | ||||
ISSN: | 1055-9965 | ||||
Official Date: | 2012 | ||||
Dates: |
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Volume: | Vol. 21 | ||||
Number: | No. 10 | ||||
Page Range: | pp. 1783-1791 | ||||
DOI: | 10.1158/1055-9965.EPI-12-0526 | ||||
Status: | Peer Reviewed | ||||
Access rights to Published version: | Restricted or Subscription Access |
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