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Title: A genome-wide association scan on estrogen receptor-negative breast cancer
Authors: Li, J 
Humphreys, K
Darabi, H
Rosin, G
Hannelius, U
Heikkinen, T
Aittomäki, K
Blomqvist, C
Pharoah, P.D.P
Dunning, A.M
Ahmed, S
Hooning, M.J
Hollestelle, A
Oldenburg, R.A
Alfredsson, L
Palotie, A
Peltonen-Palotie, L
Irwanto, A
Low, H.Q
Teoh, G.H.K
Thalamuthu, A
Kere, J
University of Helsinki, Haartmaninkatu 8, Biomedicum 1, P.O. Box 63, FI-00014, Finland
D'Amato, M
Easton, D.F
Nevanlinna, H
Liu, J
Czene, K
Keywords: estrogen receptor
estrogen receptor
tumor marker
breast cancer
cancer risk
clinical assessment
controlled study
data base
genetic association
genetic marker
genetic variability
major clinical study
single nucleotide polymorphism
validation process
breast tumor
case control study
gene expression
single nucleotide polymorphism
treatment outcome
Breast Neoplasms
Case-Control Studies
Gene Expression
Genome-Wide Association Study
Polymorphism, Single Nucleotide
Receptors, Estrogen
Treatment Outcome
Tumor Markers, Biological
Issue Date: 2010
Citation: Li, J, Humphreys, K, Darabi, H, Rosin, G, Hannelius, U, Heikkinen, T, Aittomäki, K, Blomqvist, C, Pharoah, P.D.P, Dunning, A.M, Ahmed, S, Hooning, M.J, Hollestelle, A, Oldenburg, R.A, Alfredsson, L, Palotie, A, Peltonen-Palotie, L, Irwanto, A, Low, H.Q, Teoh, G.H.K, Thalamuthu, A, Kere, J, University of Helsinki, Haartmaninkatu 8, Biomedicum 1, P.O. Box 63, FI-00014, Finland, D'Amato, M, Easton, D.F, Nevanlinna, H, Liu, J, Czene, K, Hall, (2010). A genome-wide association scan on estrogen receptor-negative breast cancer. Breast Cancer Research 12 (6) : R93. ScholarBank@NUS Repository.
Rights: Attribution 4.0 International
Abstract: Introduction: Breast cancer is a heterogeneous disease and may be characterized on the basis of whether estrogen receptors (ER) are expressed in the tumour cells. ER status of breast cancer is important clinically, and is used both as a prognostic indicator and treatment predictor. In this study, we focused on identifying genetic markers associated with ER-negative breast cancer risk.Methods: We conducted a genome-wide association analysis of 285,984 single nucleotide polymorphisms (SNPs) genotyped in 617 ER-negative breast cancer cases and 4,583 controls. We also conducted a genome-wide pathway analysis on the discovery dataset using permutation-based tests on pre-defined pathways. The extent of shared polygenic variation between ER-negative and ER-positive breast cancers was assessed by relating risk scores, derived using ER-positive breast cancer samples, to disease state in independent, ER-negative breast cancer cases.Results: Association with ER-negative breast cancer was not validated for any of the five most strongly associated SNPs followed up in independent studies (1,011 ER-negative breast cancer cases, 7,604 controls). However, an excess of small P-values for SNPs with known regulatory functions in cancer-related pathways was found (global P = 0.052). We found no evidence to suggest that ER-negative breast cancer shares a polygenic basis to disease with ER-positive breast cancer.Conclusions: ER-negative breast cancer is a distinct breast cancer subtype that merits independent analyses. Given the clinical importance of this phenotype and the likelihood that genetic effect sizes are small, greater sample sizes and further studies are required to understand the etiology of ER-negative breast cancers. © 2010 Li et al.; licensee BioMed Central Ltd.
Source Title: Breast Cancer Research
ISSN: 14655411
DOI: 10.1186/bcr2772
Rights: Attribution 4.0 International
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