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

Roger L. Milne, 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. HopperFergus 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, 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

Research output: Contribution to journalArticlepeer-review

94 Scopus citations


BackgroundA 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.Methods2q35-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.ResultsWe 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; Ptrend = 1.0 × 10 -19). The odds ratio was lower than that previously reported (P =. 02) and did not vary by age or ethnicity (all P ≥. 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 × 10 -14) and PR-negative disease (OR = 1.10, 95% CI = 1.06 to 1.15; P =. 00002).ConclusionThe rs13387042 is associated with both ER-positive and ER-negative breast cancer in European women.

Original languageEnglish (US)
Pages (from-to)1012-1018
Number of pages7
JournalJournal of the National Cancer Institute
Issue number14
StatePublished - Jul 2009

ASJC Scopus subject areas

  • Oncology
  • Cancer Research


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