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The AIB1 polyglutamine repeat does not modify breast cancer risk in BRCA1 and BRCA2 mutation carriers.
Authors:Amanda B Spurdle  Antonis C Antoniou  Livia Kelemen  Helene Holland  Susan Peock  Margaret R Cook  Paula L Smith  Mark H Greene  Jacques Simard  Marie Plourde  Melissa C Southey  Andrew K Godwin  Jeanne Beck  Alexander Miron  Mary B Daly  Regina M Santella  John L Hopper  Esther M John  Irene L Andrulis  Francine Durocher  Jeffery P Struewing  Douglas F Easton  Georgia Chenevix-Trench
Institution:The Queensland Institute of Medical Research, Brisbane, Australia. Amanda.Spurdle@qimr.edu.au
Abstract: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.
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