TY - JOUR

T1 - Risk of estrogen receptor-positive and -negative breast cancer and single-nucleotide polymorphism 2q35-rs13387042

AU - Milne, Roger L

AU - Benítez, Javier

AU - Nevanlinna, Heli

AU - Heikkinen, Tuomas

AU - Aittomäki, Kristiina

AU - Blomqvist, Carl

AU - Arias, José Ignacio

AU - Zamora, M Pilar

AU - Burwinkel, Barbara

AU - Bartram, Claus R

AU - Meindl, Alfons

AU - Schmutzler, Rita K

AU - Cox, Angela

AU - Brock, Ian

AU - Elliott, Graeme

AU - Reed, Malcolm W R

AU - Southey, Melissa C

AU - Smith, Letitia

AU - Spurdle, Amanda B

AU - Hopper, John L

AU - Couch, Fergus J

AU - Olson, Janet E

AU - Wang, Xianshu

AU - Fredericksen, Zachary

AU - Schürmann, Peter

AU - Bremer, Michael

AU - Hillemanns, Peter

AU - Dörk, Thilo

AU - Devilee, Peter

AU - van Asperen, Christie J

AU - Tollenaar, Rob A E M

AU - Seynaeve, Caroline

AU - Hall, Per

AU - Czene, Kamila

AU - Liu, Jianjun

AU - Li, Yuqing

AU - Ahmed, Shahana

AU - Dunning, Alison M

AU - Maranian, Melanie

AU - Pharoah, Paul D P

AU - Chenevix-Trench, Georgia

AU - Beesley, Jonathan

AU - kConFab Investigators

AU - AOCS Group

AU - Bogdanova, Natalia V

AU - Antonenkova, Natalia N

AU - Zalutsky, Iosif V

AU - Anton-Culver, Hoda

AU - Ziogas, Argyrios

AU - Brauch, Hiltrud

AU - Bojesen, Stig E

AU - Flyger, Henrik

AU - Breast Cancer Association Consortium

N1 - Keywords: Adult; Aged; Asian Continental Ancestry Group; Breast Neoplasms; Carcinoma, Ductal, Breast; Carcinoma, Intraductal, Noninfiltrating; Case-Control Studies; Confidence Intervals; Confounding Factors (Epidemiology); European Continental Ancestry Group; Female; Gene Frequency; Genetic Predisposition to Disease; Genotype; Humans; Linkage Disequilibrium; Middle Aged; Neoplasms, Hormone-Dependent; Odds Ratio; Polymorphism, Single Nucleotide; Receptors, Estrogen; Receptors, Progesterone; Tumor Markers, Biological

PY - 2009

Y1 - 2009

N2 - 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.

AB - 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.

U2 - 10.1093/jnci/djp167

DO - 10.1093/jnci/djp167

M3 - Journal article

C2 - 19567422

VL - 101

SP - 1012

EP - 1018

JO - National Cancer Institute. Journal (Print)

JF - National Cancer Institute. Journal (Print)

SN - 0027-8874

IS - 14

ER -