A BRCA1 promoter variant (rs11655505) and breast cancer risk

Verderio, Paolo, Pizzamiglio, Sara, Southey, Melissa C., Spurdle, Amanda B., Hopper, John L., Chen, Xiaoqing, Beesley, Jonathan, Australian Ovarian Cancer Study Group, kConFab, Schmutzler, Rita K., Engel, Christoph, Burwinkel, Barbara, Bugert, Peter, Ficarazzi, Filomena, Manoukian, Siranoush, Barile, Monica, Wappenschmidt, Barbara, Chenevix-Trench, Georgia, Radice, Paolo and Peterlongo, Paolo (2010) A BRCA1 promoter variant (rs11655505) and breast cancer risk. Journal of Medical Genetics, 47 4: 268-270.

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Author Verderio, Paolo
Pizzamiglio, Sara
Southey, Melissa C.
Spurdle, Amanda B.
Hopper, John L.
Chen, Xiaoqing
Beesley, Jonathan
Australian Ovarian Cancer Study Group
kConFab
Schmutzler, Rita K.
Engel, Christoph
Burwinkel, Barbara
Bugert, Peter
Ficarazzi, Filomena
Manoukian, Siranoush
Barile, Monica
Wappenschmidt, Barbara
Chenevix-Trench, Georgia
Radice, Paolo
Peterlongo, Paolo
Title A BRCA1 promoter variant (rs11655505) and breast cancer risk
Journal name Journal of Medical Genetics   Check publisher's open access policy
ISSN 0022-2593
1468-6244
Publication date 2010-04
Sub-type Article (original research)
DOI 10.1136/jmg.2009.073544
Volume 47
Issue 4
Start page 268
End page 270
Total pages 3
Place of publication London, U.K.
Publisher B M J Group
Collection year 2012
Language eng
Formatted abstract Background: A study of Chinese women recently suggested that the minor allele of rs11655505 in the BRCA1 promoter (c.–2265C→T) increases promoter activity and has a protective effect on breast cancer risk.

Methods: We genotyped rs11655505 in 2912 female breast cancer cases and 2783 unaffected female controls from four Caucasian breast cancer studies.

Results: No evidence for an association between rs11655505 and breast cancer risk was found.

Conclusions: Our study failed to confirm a role of rs11655505 in breast cancer risk. Larger studies are necessary to determine if there is a weak association between this SNP and breast cancer risk.
Copyright © 2011 by the BMJ Publishing Group Ltd. All rights reserved.

Keyword BRCA1 protein
Breast neoplasms
Female
Genome-wide association study
Q-Index Code CX
Q-Index Status Confirmed Code
Institutional Status UQ

Document type: Journal Article
Sub-type: Article (original research)
Collections: Non HERDC
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School of Medicine Publications
 
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Created: Thu, 31 Mar 2011, 14:20:56 EST by Debbie Banks on behalf of School of Medicine