Frequent amplification and overexpression of CCND1 in male breast cancer Maarit Bärlund 1, Tuula Kuukasjärvi 2, Kirsi Syrjäkoski 1, Anssi Auvinen 3, Anne Kallioniemi 1 * 1Laboratory of Cancer Genetics, Institute of Medical Technology, University of Tampere and Tampere University Hospital, Finland 2Department of Pathology, University of Tampere and Tampere University Hospital, Finland 3Tampere School of Public Health, University of Tampere, Finland and Finnish Cancer Registry, Helsinki, Finland email: Anne Kallioniemi (anne.kallioniemi@uta.fi) *Correspondence to Anne Kallioniemi, Laboratory of Cancer Genetics, Institute of Medical Technology, FIN-33014 University of Tampere, Finland Fax: +358-3-3117-4168 Abstract Genetic events underlying the pathogenesis of breast cancer have been studied extensively and several clinically significant markers have been identified. For example, amplification and overexpression of the ERBB2 oncogene is associated with poor prognosis in breast cancer and ERBB2 serves as a target for antibody-based therapy. Current knowledge on the pathogenesis of male breast cancer (MBC) is limited. The purpose of our study was to investigate the potential relevance of a series of genes known to be amplified in female breast cancer (FBC) in a the development and pathogenesis of MBC. To this end, we applied fluorescence in situ hybridization and immunohistochemistry to the analysis of 128 breast tumors from males. Amplification of ERBB2, MYC, PPM1D and ZNF217 was detected rarely (1-2% of tumors) indicating a considerably lower amplification frequency than in FBC. CCND1 amplification was observed in 12% of cases, being in good concordance with findings from FBC. In addition, CCND1 overexpression was detected in 63% of tumors and was associated with ER positivity (p < 0.0001). Our results indicate distinct differences in the genetic basis of MBC and FBC and suggest that marked differences exist in the pathogenesis of these diseases. The lack of ERBB2 involvement was especially unexpected and implies that ERBB2-targeted therapies are unlikely to be beneficial in MBC. Furthermore, the high frequency of hormone receptor positivity and the association between ER positivity and CCND1 overexpression supports the notion that hormonal regulation is likely to be essential for the development of MBC. International Journal of Cancer Volume 111, Issue 6 , Pages 968 - 971 Remember we are NOT Doctors and have NO medical training. This site is like an Encylopedia - there are many pages, many links on many topics. Support our work with any size DONATION - see left side of any page - for how to donate. You can help raise awareness of CAM.