The AIB1 glutamine repeat polymorphism is not associated with risk of breast cancer before age 40 years in Australian women.
BACKGROUND
AIB1, located at 20q12, is a member of the steroid hormone coactivator family. It contains a glutamine repeat (CAG/CAA) polymorphism at its carboxyl-terminal region that may alter the transcriptional activation of the receptor and affect susceptibility to breast cancer through altered sensitivity to hormones.


METHODS
We evaluated this repeat polymorphism in the context of early-onset disease by conducting a case-control study of 432 Australian women diagnosed with breast cancer before the age of 40 years and 393 population-based control individuals who were frequency matched for age. Genotyping was performed using a scanning laser fluorescence imager.


RESULTS
There were no differences in genotype frequencies between cases and control individuals, or between cases categorized by family history or by BRCA1 and BRCA2 germline mutation status. There was no evidence that the presence of one or two alleles of 26 glutamine repeats or fewer was associated with breast cancer (odds ratio = 1.03, 95% confidence interval = 0.73-1.44), or that women with alleles greater than 29 repeats were at increased risk of breast cancer. Exclusion of women who carried a BRCA1 or BRCA2 mutation (24 cases) and non-Caucasian women (44 cases) did not alter the risk estimates or inferences. We present raw data, including that on mutation carriers, to allow pooling with other studies.


CONCLUSIONS
There was no evidence that risk of breast cancer depends on AIB1 CAG/CAA polymorphism status, even if affected women carry a mutation in BRCA1 or BRCA2.
Montgomery
Karen G
KG
Cancer Genetics Laboratory, Victorian Breast Cancer Research Consortium, Peter MacCallum Cancer Centre, St, Andrews Place, East Melbourne, Victoria, Australia. karen.montgomery@petermac.org
Chang
Jiun-Horng
JH
Gertig
Dorota M
DM
Dite
Gillian S
GS
McCredie
Margaret R
MR
Giles
Graham G
GG
Southey
Melissa C
MC
Hopper
John L
JL
Campbell
Ian G
IG
D000123:Acetyltransferases / Q000235:genetics* / Q000502:physiology; D000328:Adult; D017668:Age of Onset; D001315:Australia; D001943:Breast Neoplasms / Q000209:etiology / Q000235:genetics* / Q000473:pathology; D016022:Case-Control Studies; D005260:Female; D019398:Genes, BRCA1; D024522:Genes, BRCA2; D020022:Genetic Predisposition to Disease; D005838:Genotype; D051548:Histone Acetyltransferases; D006801:Humans; D056921:Nuclear Receptor Coactivator 3; D015513:Oncogene Proteins / Q000235:genetics* / Q000502:physiology; D011110:Polymorphism, Genetic; D012307:Risk Factors; D015534:Trans-Activators / Q000235:genetics* / Q000502:physiology; D014158:Transcription, Genetic; D018911:Trinucleotide Repeats
D015513:Oncogene Proteins; D015534:Trans-Activators; D000123:Acetyltransferases; D051548:Histone Acetyltransferases; C538866:NCOA3 protein, human; D056921:Nuclear Receptor Coactivator 3