The AIB1 polyglutamine repeat does not modify breast cancer risk in BRCA1 and BRCA2 mutation carriers

Spurdle, Amanda B., Antoniou, Antonis C., Keleman, Livia, Holland, Helene, Peock, Susan, Cook, Margaret R., Smith, Paula L., Greene, Mark H., Simard, Jacques, Plourde, Marie, Southey, Melissa C., Godwin, Andrew K., Beck, Jeanne, Miron, Alexander, Daly, Mary B., Santella, Regina M., Hopper, John L., John, Esther M., Andrulis, Irene L., Durocher, Francine, Struewing, Jeffery P., Easton, Douglas F. and Chenevix-Trench, Georgia (2006) The AIB1 polyglutamine repeat does not modify breast cancer risk in BRCA1 and BRCA2 mutation carriers. Cancer Epidemiology, Biomarkers and Prevention, 15 1: 76-79. doi:10.1158/1055-9965.EPI-05-0709


Author Spurdle, Amanda B.
Antoniou, Antonis C.
Keleman, Livia
Holland, Helene
Peock, Susan
Cook, Margaret R.
Smith, Paula L.
Greene, Mark H.
Simard, Jacques
Plourde, Marie
Southey, Melissa C.
Godwin, Andrew K.
Beck, Jeanne
Miron, Alexander
Daly, Mary B.
Santella, Regina M.
Hopper, John L.
John, Esther M.
Andrulis, Irene L.
Durocher, Francine
Struewing, Jeffery P.
Easton, Douglas F.
Chenevix-Trench, Georgia
Title The AIB1 polyglutamine repeat does not modify breast cancer risk in BRCA1 and BRCA2 mutation carriers
Formatted title
The AIB1 polyglutamine repeat does not modify breast cancer risk in BRCA1 and BRCA2 mutation carriers
Journal name Cancer Epidemiology, Biomarkers and Prevention   Check publisher's open access policy
ISSN 1055-9965
1538-7755
Publication date 2006-01
Sub-type Article (original research)
DOI 10.1158/1055-9965.EPI-05-0709
Volume 15
Issue 1
Start page 76
End page 79
Total pages 4
Place of publication Philadelphia, PA, United States
Publisher American Association for Cancer Research
Language eng
Formatted 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.
Keyword AIB1
BRCA1
BRCA2
Modifier
Q-Index Code C1
Q-Index Status Provisional Code
Institutional Status Non-UQ

Document type: Journal Article
Sub-type: Article (original research)
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