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).
abstract: BACKGROUND
  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.
  
  
  CONCLUSIONS
  Among postmenopausal Caucasian women, common variants of the AR gene are not associated with risk of breast cancer.
authors.affiliation: Program in Molecular and Genetic Epidemiology, Epidemiology Department, Harvard School of Public Health, 677 Huntington Avenue, Boston, MA 02115, USA. dcox@hsph.harvard.edu
authors.forename: David G
authors.initials: DG
authors.lastname: Cox
authors.forename: Hélène
authors.initials: H
authors.lastname: Blanché
authors.forename: Celeste L
authors.initials: CL
authors.lastname: Pearce
authors.forename: Eugenia E
authors.initials: EE
authors.lastname: Calle
authors.forename: Graham A
authors.initials: GA
authors.lastname: Colditz
authors.forename: Malcolm C
authors.initials: MC
authors.lastname: Pike
authors.forename: Demetrius
authors.initials: D
authors.lastname: Albanes
authors.forename: Naomi E
authors.initials: NE
authors.lastname: Allen
authors.forename: Pilar
authors.initials: P
authors.lastname: Amiano
authors.forename: Goran
authors.initials: G
authors.lastname: Berglund
authors.forename: Heiner
authors.initials: H
authors.lastname: Boeing
authors.forename: Julie
authors.initials: J
authors.lastname: Buring
authors.forename: Noel
authors.initials: N
authors.lastname: Burtt
authors.forename: Federico
authors.initials: F
authors.lastname: Canzian
authors.forename: Stephen
authors.initials: S
authors.lastname: Chanock
authors.forename: Françoise
authors.initials: F
authors.lastname: Clavel-Chapelon
authors.forename: Heather Spencer
authors.initials: HS
authors.lastname: Feigelson
authors.forename: Matthew
authors.initials: M
authors.lastname: Freedman
authors.forename: Christopher A
authors.initials: CA
authors.lastname: Haiman
authors.forename: Susan E
authors.initials: SE
authors.lastname: Hankinson
authors.forename: Brian E
authors.initials: BE
authors.lastname: Henderson
authors.forename: Robert
authors.initials: R
authors.lastname: Hoover
authors.forename: David J
authors.initials: DJ
authors.lastname: Hunter
authors.forename: Rudolf
authors.initials: R
authors.lastname: Kaaks
authors.forename: Laurence
authors.initials: L
authors.lastname: Kolonel
authors.forename: Peter
authors.initials: P
authors.lastname: Kraft
authors.forename: Loic
authors.initials: L
authors.lastname: LeMarchand
authors.forename: Eiliv
authors.initials: E
authors.lastname: Lund
authors.forename: Domenico
authors.initials: D
authors.lastname: Palli
authors.forename: Petra H M
authors.initials: PH
authors.lastname: Peeters
authors.forename: Elio
authors.initials: E
authors.lastname: Riboli
authors.forename: Daniel O
authors.initials: DO
authors.lastname: Stram
authors.forename: Michael
authors.initials: M
authors.lastname: Thun
authors.forename: Anne
authors.initials: A
authors.lastname: Tjonneland
authors.forename: Dimitrios
authors.initials: D
authors.lastname: Trichopoulos
authors.forename: Meredith
authors.initials: M
authors.lastname: Yeager
mesh_terms: D000368:Aged; D001943:Breast Neoplasms / Q000235:genetics*; D005260:Female; D014644:Genetic Variation; D006801:Humans; D015810:Linkage Disequilibrium; D008875:Middle Aged; D020641:Polymorphism, Single Nucleotide; D011944:Receptors, Androgen / Q000235:genetics*; D012306:Risk
chemical_list: D011944:Receptors, Androgen