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Multicenter Study
. 2009 Jul 15;101(14):1012-8.
doi: 10.1093/jnci/djp167. Epub 2009 Jun 30.

Risk of estrogen receptor-positive and -negative breast cancer and single-nucleotide polymorphism 2q35-rs13387042

Roger L Milne  1 , Javier Benítez, Heli Nevanlinna, Tuomas Heikkinen, Kristiina Aittomäki, Carl Blomqvist, José Ignacio Arias, M Pilar Zamora, Barbara Burwinkel, Claus R Bartram, Alfons Meindl, Rita K Schmutzler, Angela Cox, Ian Brock, Graeme Elliott, Malcolm W R Reed, Melissa C Southey, Letitia Smith, Amanda B Spurdle, John L Hopper, Fergus J Couch, Janet E Olson, Xianshu Wang, Zachary Fredericksen, Peter Schürmann, Michael Bremer, Peter Hillemanns, Thilo Dörk, Peter Devilee, Christie J van Asperen, Rob A E M Tollenaar, Caroline Seynaeve, Per Hall, Kamila Czene, Jianjun Liu, Yuqing Li, Shahana Ahmed, Alison M Dunning, Melanie Maranian, Paul D P Pharoah, Georgia Chenevix-Trench, Jonathan Beesley; kConFab Investigators; AOCS Group; Natalia V Bogdanova, Natalia N Antonenkova, Iosif V Zalutsky, Hoda Anton-Culver, Argyrios Ziogas, Hiltrud Brauch, Christina Justenhoven, Yon-Dschun Ko, Susanne Haas, Peter A Fasching, Reiner Strick, Arif B Ekici, Matthias W Beckmann, Graham G Giles, Gianluca Severi, Laura Baglietto, Dallas R English, Olivia Fletcher, Nichola Johnson, Isabel dos Santos Silva, Julian Peto, Clare Turnbull, Sarah Hines, Anthony Renwick, Nazneen Rahman, Børge G Nordestgaard, Stig E Bojesen, Henrik Flyger, Daehee Kang, Keun-Young Yoo, Dong-Young Noh, Arto Mannermaa, Vesa Kataja, Veli-Matti Kosma, Montserrat García-Closas, Stephen Chanock, Jolanta Lissowska, Louise A Brinton, Jenny Chang-Claude, Shan Wang-Gohrke, Chen-Yang Shen, Hui-Chun Wang, Jyh-Cherng Yu, Sou-Tong Chen, Marina Bermisheva, Tatjana Nikolaeva, Elza Khusnutdinova, Manjeet K Humphreys, Jonathan Morrison, Radka Platte, Douglas F Easton; Breast Cancer Association Consortium
Collaborators, Affiliations
Multicenter Study

Risk of estrogen receptor-positive and -negative breast cancer and single-nucleotide polymorphism 2q35-rs13387042

Roger L Milne et al. J Natl Cancer Inst. .

Abstract

Background: A recent genome-wide association study identified single-nucleotide polymorphism (SNP) 2q35-rs13387042 as a marker of susceptibility to estrogen receptor (ER)-positive breast cancer. We attempted to confirm this association using the Breast Cancer Association Consortium.

Methods: 2q35-rs13387042 SNP was genotyped for 31 510 women with invasive breast cancer, 1101 women with ductal carcinoma in situ, and 35 969 female control subjects from 25 studies. Odds ratios (ORs) were estimated by logistic regression, adjusted for study. Heterogeneity in odds ratios by each of age, ethnicity, and study was assessed by fitting interaction terms. Heterogeneity by each of invasiveness, family history, bilaterality, and hormone receptor status was assessed by subclassifying case patients and applying polytomous logistic regression. All statistical tests were two-sided.

Results: We found strong evidence of association between rs13387042 and breast cancer in white women of European origin (per-allele OR = 1.12, 95% confidence interval [CI] = 1.09 to 1.15; P(trend) = 1.0 x 10(-19)). The odds ratio was lower than that previously reported (P = .02) and did not vary by age or ethnicity (all P > or = .2). However, it was higher when the analysis was restricted to case patients who were selected for a strong family history (P = .02). An association was observed for both ER-positive (OR = 1.14, 95% CI = 1.10 to 1.17; P = 10(-15)) and ER-negative disease (OR = 1.10, 95% CI = 1.04 to 1.15; P = .0003) and both progesterone receptor (PR)-positive (OR = 1.15, 95% CI = 1.11 to 1.19; P = 5 x 10(-14)) and PR-negative disease (OR = 1.10, 95% CI = 1.06 to 1.15; P = .00002).

Conclusion: The rs13387042 is associated with both ER-positive and ER-negative breast cancer in European women.

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Figures

Figure 1
Figure 1
The per-A-allele odds ratio estimate for 2q-rs13387042, by study. The size of the box is inversely proportional to the standard error of the log-odds ratio estimate. Study acronyms are defined in Supplementary Table 1 (available online) (#, studies that selected case patients with a strong family history and/or bilateral disease; *, studies of Asian women).
See this image and copyright information in PMC

Comment in

References

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