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Published in: Breast Cancer Research 5/2006

Open Access 01-10-2006 | Research article

A comprehensive analysis of the androgen receptor gene and risk of breast cancer: results from the National Cancer Institute Breast and Prostate Cancer Cohort Consortium (BPC3)

Authors: David G Cox, Hélène Blanché, Celeste L Pearce, Eugenia E Calle, Graham A Colditz, Malcolm C Pike, Demetrius Albanes, Naomi E Allen, Pilar Amiano, Goran Berglund, Heiner Boeing, Julie Buring, Noel Burtt, Federico Canzian, Stephen Chanock, Françoise Clavel-Chapelon, Heather Spencer Feigelson, Matthew Freedman, Christopher A Haiman, Susan E Hankinson, Brian E Henderson, Robert Hoover, David J Hunter, Rudolf Kaaks, Laurence Kolonel, Peter Kraft, Loic LeMarchand, Eiliv Lund, Domenico Palli, Petra HM Peeters, Elio Riboli, Daniel O Stram, Michael Thun, Anne Tjonneland, Dimitrios Trichopoulos, Meredith Yeager, the Breast and Prostate Cancer Cohort Consortium

Published in: Breast Cancer Research | Issue 5/2006

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Abstract

Introduction

Androgens have been hypothesised to influence risk of breast cancer through several possible mechanisms, including their conversion to estradiol or their binding to the oestrogen receptor and/or androgen receptor (AR) in the breast. Here, we report on the results of a large and comprehensive study of the association between genetic variation in the AR gene and risk of breast cancer in the National Cancer Institute Breast and Prostate Cancer Cohort Consortium (BPC3).

Methods

The underlying genetic variation was determined by first sequencing the coding regions of the AR gene in a panel of 95 advanced breast cancer cases. Second, a dense set of markers from the public database was genotyped in a panel of 349 healthy women. The linkage disequilibrium relationships (blocks) across the gene were then identified, and haplotype-tagging single nucleotide polymorphisms (htSNPs) were selected to capture the common genetic variation across the locus. The htSNPs were then genotyped in the nested breast cancer cases and controls from the Cancer Prevention Study II, European Prospective Investigation into Cancer and Nutrition, Multiethnic Cohort, Nurses' Health Study, and Women's Health Study cohorts (5,603 breast cancer cases and 7,480 controls).

Results

We found no association between any genetic variation (SNP, haplotype, or the exon 1 CAG repeat) in the AR gene and risk of breast cancer, nor were any statistical interactions with known breast cancer risk factors observed.

Conclusion

Among postmenopausal Caucasian women, common variants of the AR gene are not associated with risk of breast cancer.
Appendix
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Metadata
Title
A comprehensive analysis of the androgen receptor gene and risk of breast cancer: results from the National Cancer Institute Breast and Prostate Cancer Cohort Consortium (BPC3)
Authors
David G Cox
Hélène Blanché
Celeste L Pearce
Eugenia E Calle
Graham A Colditz
Malcolm C Pike
Demetrius Albanes
Naomi E Allen
Pilar Amiano
Goran Berglund
Heiner Boeing
Julie Buring
Noel Burtt
Federico Canzian
Stephen Chanock
Françoise Clavel-Chapelon
Heather Spencer Feigelson
Matthew Freedman
Christopher A Haiman
Susan E Hankinson
Brian E Henderson
Robert Hoover
David J Hunter
Rudolf Kaaks
Laurence Kolonel
Peter Kraft
Loic LeMarchand
Eiliv Lund
Domenico Palli
Petra HM Peeters
Elio Riboli
Daniel O Stram
Michael Thun
Anne Tjonneland
Dimitrios Trichopoulos
Meredith Yeager
the Breast and Prostate Cancer Cohort Consortium
Publication date
01-10-2006
Publisher
BioMed Central
Published in
Breast Cancer Research / Issue 5/2006
Electronic ISSN: 1465-542X
DOI
https://doi.org/10.1186/bcr1602

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