A BRCA1 promoter variant (rs11655505) and breast cancer risk.

Paolo Verderio (1) , Sara Pizzamiglio (1) , Melissa Southey (2) , Amanda Spurdle (3) , John Hopper (4) , Xiaoqing Chen (3) , Jonathan Beesley (3) , Australian Ovarian Cancer Study Group , Kconfab . , Rita Schmutzler (5) , Christoph Engel (6) , Barbara Burwinkel (7) , Peter Bugert (8) , Filomena Ficarazzi (9) , Siranoush Manoukian (10) , Monica Barile (11) , Barbara Wappenschmidt (12) , Georgia Chenevix-Trench (3) , Paolo Radice (13) , Paolo Peterlongo (9)

1 Unit of Medical Statistics and Biometry, Fondazione IRCCS Istituto Nazionale dei Tumori, Milan, Ita
2 Department of Pathology, The University of Melbourne, Melbourne, Victoria, Australia
3 Queensland Institute of Medical Research
4 Centre for MEGA Epidemiology, The University of Melbourne, Victoria, Australia
5 Division of Molecular Gyneco-Oncology, Department of Gynaecology and Obstetrics, Clinical Center Un
6 IMISE - Institute for Medical Informatics, Statistics and Epidemiology [Leipzig]
7 Molecular Epidemiology Research Group
8 Institute of Transfusion Medicine and Immunology, Red Cross Blood Service of Baden-Württemberg-Hes
9 IFOM - IFOM, Istituto FIRC di Oncologia Molecolare
10 Medical Genetics Service, Fondazione IRCCS Istituto Nazionale dei Tumori, Milan, Italy.
11 Division of Cancer Prevention and Genetics, Istituto Europeo di Oncologia, Milan, Italy.
12 Division of Molecular Gyneco-Oncology, Department of Gynaecology and Obstetrics,
13 Unit of Genetic Susceptibility to Cancer, Department of Experimental Oncology and Molecular Medici

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. We genotyped rs11655505 in 2,912 female breast cancer cases and 2,783 unaffected female controls from four Caucasian breast cancer studies but did not find any evidence for an association between rs11655505 and breast cancer risk. Larger studies are necessary to determine if there is a weak association between SNP rs11655505 and breast cancer risk.

Mots clés: Cancer: breast; Genetic epidemiology

Paolo Verderio, Sara Pizzamiglio, Melissa Southey, Amanda Spurdle, John Hopper, et al.. A BRCA1 promoter variant (rs11655505) and breast cancer risk.. Journal of Medical Genetics, 2010, 47 (4), pp.268. ⟨10.1136/jmg.2009.073544⟩. ⟨hal-00557376⟩