A BRCA1 promoter variant (rs11655505) and breast cancer risk. Issue 4 (22nd April 2010)

• Record Type: Journal Article
• Authors: Verderio, Paolo; Pizzamiglio, Sara; Southey, Melissa C; Spurdle, Amanda B; Hopper, John L; Chen, Xiaoqing; Beesley, Jonathan; 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
• Is Part Of: Journal of medical genetics. Volume 47:Issue 4(2010)
• Page Start: 268
• Page End: 270
• Publication Date: 2010-04-22
• Subjects: Breast cancer risk -- low-penetrance allele -- association study -- BRCA1 -- SNP rs11655505 -- cancer: breast -- genetic epidemiology; Medical genetics -- Periodicals; 616.042
• DOI: 10.1136/jmg.2009.073544
• Languages: English
• ISSNs: 1468-6244

Abstract

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.