Risk of estrogen receptor-positive and -negative breast cancer and single-nucleotide polymorphism 2q35-rs13387042.
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Milne Roger L, Benítez Javier, Nevanlinna Heli, Heikkinen Tuomas, Aittomäki Kristiina, Blomqvist Carl, Arias José Ignacio, Zamora M Pilar, Burwinkel Barbara, Bartram Claus R, Meindl Alfons, Schmutzler Rita K, Cox Angela, Brock Ian, Elliott Graeme, Reed Malcolm W R, Southey Melissa C, Smith Letitia, Spurdle Amanda B, Hopper John L, Couch Fergus J, Olson Janet E, Wang Xianshu, Fredericksen Zachary, Schürmann Peter, Bremer Michael, Hillemanns Peter, Dörk Thilo, Devilee Peter, van Asperen Christie J, Tollenaar Rob A E M, Seynaeve Caroline, Hall Per, Czene Kamila, Liu Jianjun, Li Yuqing, Ahmed Shahana, Dunning Alison M, Maranian Melanie, Pharoah Paul D P, Chenevix-Trench Georgia, Beesley Jonathan, kConFab Investigators, AOCS Group, Bogdanova Natalia V, Antonenkova Natalia N, Zalutsky Iosif V, Anton-Culver Hoda, Ziogas Argyrios, Brauch Hiltrud, Justenhoven Christina, Ko Yon-Dschun, Haas Susanne, Fasching Peter A, Strick Reiner, Ekici Arif B, Beckmann Matthias W, Giles Graham G, Severi Gianluca, Baglietto Laura, English Dallas R, Fletcher Olivia, Johnson Nichola, dos Santos Silva Isabel, Peto Julian, Turnbull Clare, Hines Sarah, Renwick Anthony, Rahman Nazneen, Nordestgaard Børge G, Bojesen Stig E, Flyger Henrik, Kang Daehee, Yoo Keun-Young, Noh Dong-Young, Mannermaa Arto, Kataja Vesa, Kosma Veli-Matti, García-Closas Montserrat, Chanock Stephen, Lissowska Jolanta, Brinton Louise A, Chang-Claude Jenny, Wang-Gohrke Shan, Shen Chen-Yang, Wang Hui-Chun, Yu Jyh-Cherng, Chen Sou-Tong, Bermisheva Marina, Nikolaeva Tatjana, Khusnutdinova Elza, Humphreys Manjeet K, Morrison Jonathan, Platte Radka, Easton Douglas F, Breast Cancer Association Consortium
Аннотация
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.