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. 2010 Apr;47(4):268-70.
doi: 10.1136/jmg.2009.073544.

A BRCA1 promoter variant (rs11655505) and breast cancer risk

Paolo Verderio  1 , Sara Pizzamiglio, Melissa C Southey, Amanda B Spurdle, John L Hopper, Xiaoqing Chen, Jonathan Beesley; Australian Ovarian Cancer Study Group KConFab; Rita K Schmutzler, Christoph Engel, Barbara Burwinkel, Peter Bugert, Filomena Ficarazzi, Siranoush Manoukian, Monica Barile, Barbara Wappenschmidt, Georgia Chenevix-Trench, Paolo Radice, Paolo Peterlongo
Affiliations

A BRCA1 promoter variant (rs11655505) and breast cancer risk

Paolo Verderio et al. J Med Genet. 2010 Apr.

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.

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