Genetic Epidemiology, Psychiatric Genetics, Asthma Genetics and Statistical Genetics Laboratories investigate the pattern of disease in families, particularly identical and non-identical twins, to assess the relative importance of genes and environment in a variety of important health problems.
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PMID
15743497
TITLE
The androgen receptor CAG repeat polymorphism and modification of breast cancer risk in BRCA1 and BRCA2 mutation carriers.
ABSTRACT
INTRODUCTION NlmCategory: BACKGROUND
The androgen receptor (AR) gene exon 1 CAG repeat polymorphism encodes a string of 9-32 glutamines. Women with germline BRCA1 mutations who carry at least one AR allele with 28 or more repeats have been reported to have an earlier age at onset of breast cancer.
METHODS NlmCategory: METHODS
A total of 604 living female Australian and British BRCA1 and/or BRCA2 mutation carriers from 376 families were genotyped for the AR CAG repeat polymorphism. The association between AR genotype and disease risk was assessed using Cox regression. AR genotype was analyzed as a dichotomous covariate using cut-points previously reported to be associated with increased risk among BRCA1 mutation carriers, and as a continuous variable considering smaller allele, larger allele and average allele size.
RESULTS NlmCategory: RESULTS
There was no evidence that the AR CAG repeat polymorphism modified disease risk in the 376 BRCA1 or 219 BRCA2 mutation carriers screened successfully. The rate ratio associated with possession of at least one allele with 28 or more CAG repeats was 0.74 (95% confidence interval 0.42-1.29; P = 0.3) for BRCA1 carriers, and 1.12 (95% confidence interval 0.55-2.25; P = 0.8) for BRCA2 carriers.
CONCLUSION NlmCategory: CONCLUSIONS
The AR exon 1 CAG repeat polymorphism does not appear to have an effect on breast cancer risk in BRCA1 or BRCA2 mutation carriers.
DATE PUBLISHED
2005
HISTORY
PUBSTATUS PUBSTATUSDATE
received 2004/06/24
revised 2004/10/05
accepted 2004/11/11
aheadofprint 2004/12/16
pubmed 2005/03/04 09:00
medline 2006/02/01 09:00
entrez 2005/03/04 09:00
AUTHORS
NAME COLLECTIVENAME LASTNAME FORENAME INITIALS AFFILIATION AFFILIATIONINFO
Spurdle AB Spurdle Amanda B AB Queensland Institute of Medical Research, Brisbane, Australia. mandyS@qimr.edu.au
Antoniou AC Antoniou Antonis C AC
Duffy DL Duffy David L DL
Pandeya N Pandeya Nirmala N
Kelemen L Kelemen Livia L
Chen X Chen Xiaoqing X
Peock S Peock Susan S
Cook MR Cook Margaret R MR
Smith PL Smith Paula L PL
Purdie DM Purdie David M DM
Newman B Newman Beth B
Dite GS Dite Gillian S GS
Apicella C Apicella Carmel C
Southey MC Southey Melissa C MC
Giles GG Giles Graham G GG
Hopper JL Hopper John L JL
Chenevix-Trench G Chenevix-Trench Georgia G
Easton DF Easton Douglas F DF
EMBRACE Study Collaborators
INVESTIGATORS
JOURNAL
VOLUME: 7
ISSUE: 2
TITLE: Breast cancer research : BCR
ISOABBREVIATION: Breast Cancer Res.
YEAR: 2005
MONTH:
DAY:
MEDLINEDATE:
SEASON:
CITEDMEDIUM: Internet
ISSN: 1465-542X
ISSNTYPE: Electronic
MEDLINE JOURNAL
MEDLINETA: Breast Cancer Res
COUNTRY: England
ISSNLINKING: 1465-5411
NLMUNIQUEID: 100927353
PUBLICATION TYPE
PUBLICATIONTYPE TEXT
Journal Article
Research Support, N.I.H., Extramural
Research Support, Non-U.S. Gov't
Research Support, U.S. Gov't, P.H.S.
COMMENTS AND CORRECTIONS
REFTYPE REFSOURCE REFPMID NOTE
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GRANTS
GRANTID AGENCY COUNTRY
CA69638 NCI NIH HHS United States
GENERAL NOTE
KEYWORDS
MESH HEADINGS
DESCRIPTORNAME QUALIFIERNAME
Breast Neoplasms genetics
DNA Mutational Analysis genetics
Exons genetics
Female genetics
Genes, BRCA1 genetics
Genes, BRCA2 genetics
Genetic Predisposition to Disease genetics
Genotype genetics
Germ-Line Mutation genetics
Humans genetics
Polymerase Chain Reaction genetics
Polymorphism, Genetic genetics
Receptors, Androgen genetics
Risk Assessment genetics
Trinucleotide Repeats genetics
SUPPLEMENTARY MESH
GENE SYMBOLS
CHEMICALS
REGISTRYNUMBER NAMEOFSUBSTANCE
0 Receptors, Androgen
OTHER ID's
OTHERID SOURCE
PMC1064126 NLM