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The AIB1 Polyglutamine Repeat Does Not Modify Breast Cancer Risk in BRCA1 and BRCA2 Mutation Carriers

¹ Queensland Institute of Medical Research, Brisbane, Australia; ² Cancer Research UK Genetic Epidemiology Unit, Department of Public Health and Primary Care, University of Cambridge, United Kingdom; ³ Clinical Genetics Branch; ⁴ Laboratory of Population Genetics, National Cancer Institute, National Institutes of Health, Bethesda, Maryland; ⁵ Cancer Genomics Laboratory, Oncology and Molecular Endocrinology Research Centre, Centre Hospitalier Universitaire de Québec and Laval University, Quebec, Canada; ⁶ Centre for Genetic Epidemiology, University of Melbourne, Victoria, Australia; ⁷ Mailman School of Public Health of Columbia University, New York, New York; ⁸ Fox Chase Cancer Center, Philadelphia, Pennsylvania; ⁹ Coriell Institute for Medical Research, Camden, New Jersey; ¹⁰ Dana-Farber Cancer Institute, Boston, Massachusetts; ¹¹ Northern California Cancer Center, Union City, California; and ¹² Department of Molecular and Medical Genetics, University of Toronto and Fred A. Litwin Centre for Cancer Genetics, Samuel Lunenfeld Research Institute, Mount Sinai Hospital, Toronto, Ontario, Canada

Requests for reprints: Amanda B. Spurdle, Cancer and Cell Biology Division, The Queensland Institute of Medical Research, P.O. Royal Brisbane Hospital, Queensland 4029, Australia. Phone: 617-3362-0371; Fax: 617-3362-0105. E-mail: Amanda.Spurdle{at}qimr.edu.au

This is by far the largest study of its kind to date, and further suggests that AIB1 does not play a substantial role in modifying the phenotype of BRCA1 and BRCA2 carriers. The AIB1 gene encodes the AIB1/SRC-3 steroid hormone receptor coactivator, and amplification of the gene and/or protein occurs in breast and ovarian tumors. A CAG/CAA repeat length polymorphism encodes a stretch of 17 to 29 glutamines in the HR-interacting carboxyl-terminal region of the protein which is somatically unstable in tumor tissues and cell lines. There is conflicting evidence regarding the role of this polymorphism as a modifier of breast cancer risk in BRCA1 and BRCA2 carriers. To further evaluate the evidence for an association between AIB1 glutamine repeat length and breast cancer risk in BRCA1 and BRCA2 mutation carriers, we have genotyped this polymorphism in 1,090 BRCA1 and 661 BRCA2 mutation carriers from Australia, Europe, and North America. There was no evidence for an increased risk associated with AIB1 glutamine repeat length. Given the large sample size, with more than adequate power to detect previously reported effects, we conclude that the AIB1 glutamine repeat does not substantially modify risk of breast cancer in BRCA1 and BRCA2 mutation carriers. (Cancer Epidemiol Biomarkers Prev 2006;15(1):76–9)

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