A BRCA1 promoter variant (rs11655505) and breast cancer risk

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

Research output: Contribution to journalArticle

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.

Original languageEnglish
Pages (from-to)268-270
Number of pages3
JournalJournal of Medical Genetics
Volume47
Issue number4
DOIs
Publication statusPublished - Apr 2010

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Breast Neoplasms
Single Nucleotide Polymorphism
Alleles

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)

Cite this

Verderio, P., Pizzamiglio, S., Southey, M. C., Spurdle, A. B., Hopper, J. L., Chen, X., ... Peterlongo, P. (2010). A BRCA1 promoter variant (rs11655505) and breast cancer risk. Journal of Medical Genetics, 47(4), 268-270. https://doi.org/10.1136/jmg.2009.073544

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; Schmutzler, Rita K.; Engel, Christoph; Burwinkel, Barbara; Bugert, Peter; Ficarazzi, Filomena; Manoukian, Siranoush; Barile, Monica; Wappenschmidt, Barbara; Chenevix-Trench, Georgia; Radice, Paolo; Peterlongo, Paolo.

In: Journal of Medical Genetics, Vol. 47, No. 4, 04.2010, p. 268-270.

Research output: Contribution to journalArticle

Verderio, P, Pizzamiglio, S, Southey, MC, Spurdle, AB, Hopper, JL, Chen, X, Beesley, J, Schmutzler, RK, Engel, C, Burwinkel, B, Bugert, P, Ficarazzi, F, Manoukian, S, Barile, M, Wappenschmidt, B, Chenevix-Trench, G, Radice, P & Peterlongo, P 2010, 'A BRCA1 promoter variant (rs11655505) and breast cancer risk', Journal of Medical Genetics, vol. 47, no. 4, pp. 268-270. https://doi.org/10.1136/jmg.2009.073544
Verderio P, Pizzamiglio S, Southey MC, Spurdle AB, Hopper JL, Chen X et al. A BRCA1 promoter variant (rs11655505) and breast cancer risk. Journal of Medical Genetics. 2010 Apr;47(4):268-270. https://doi.org/10.1136/jmg.2009.073544
Verderio, Paolo ; Pizzamiglio, Sara ; Southey, Melissa C. ; Spurdle, Amanda B. ; Hopper, John L. ; Chen, Xiaoqing ; Beesley, Jonathan ; Schmutzler, Rita K. ; Engel, Christoph ; Burwinkel, Barbara ; Bugert, Peter ; Ficarazzi, Filomena ; Manoukian, Siranoush ; Barile, Monica ; Wappenschmidt, Barbara ; Chenevix-Trench, Georgia ; Radice, Paolo ; Peterlongo, Paolo. / A BRCA1 promoter variant (rs11655505) and breast cancer risk. In: Journal of Medical Genetics. 2010 ; Vol. 47, No. 4. pp. 268-270.
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