Cortesi et al. BMC Cancer 2010, 10:90 http://www.biomedcentral.com/1471-2407/10/90 R E S E A R C H A R T I C L E Open Access Favourable ten-year overall survival in a Caucasian population with high probability of hereditary breast cancer Laura Cortesi1*, Cristina Masini1, Claudia Cirilli2, Veronica Medici1, Isabella Marchi1, Giovanna Cavazzini3, Giuseppe Pasini4, Daniela Turchetti5, Massimo Federico1 Abstract Background: The purpose of our study was to compare differences in the prognosis of breast cancer (BC) patients at high (H) risk or intermediate slightly (IS) increased risk based on family history and those without a family history of BC, and to evaluate whether ten-year overall survival can be considered a good indicator of BRCA1 gene mutation. Methods: We classified 5923 breast cancer patients registered between 1988 and 2006 at the Department of Oncology and Haematology in Modena, Italy, into one of three different risk categories according to Modena criteria. One thousand eleven patients at H and IS increased risk were tested for BRCA1/2 mutations. The overall survival (OS) and disease free survival (DFS) were the study end-points. Results: Eighty BRCA1 carriers were identified. A statistically significantly better prognosis was observed for patients belonging to the H risk category with respect to women in the IS and sporadic groups (82% vs.75% vs.73%, respectively; p < 0.0001). Comparing only BRCA1 carriers with BRCA-negative and sporadic BC (77% vs.77% vs.73%, respectively; p < 0.001) an advantage in OS was seen. Conclusions: Patients belonging to a population with a high probability of being BRCA1 carriers had a better prognosis than those with sporadic BC. Considering these results, women who previously had BC and had survived ten years could be selected for BRCA1 analysis among family members at high risk of hereditary BC during genetic counselling. Since only 30% of patients with a high probability of having hereditary BC have BRCA1 mutations, selecting women with a long term survival among this population could increase the rate of positive analyses, avoiding the use of expensive tests. Background The major breast cancer (BC) predisposing genes, BRCA1 and BRCA2 were identified in 1994 and 1995, respectively [1,2]. Unfortunately, the optimal clinical approach to women who develop hereditary breast can- cer remains incompletely defined. Studies of the out- comes of women with BRCA1/BRCA2-related cancer have yielded conflicting results. Several reports sug- gested that women with germline mutations in BRCA1 are more likely to die from their disease than are women with sporadic breast cancer [3-6], whereas * Correspondence: hbc@unimo.it 1Department of Oncology and Haematology, University of Modena and Reggio Emilia, Modena, Italy BRCA2 mutation carriers and non-mutation carriers seem to share a similar prognosis [7,8]. The poor prog- nosis in BRCA1 carriers may be consistent with the histological characteristics usually described for BRCA1- associated breast cancer, which show higher histologic grade and cancers that are more often hormone recep- tor-negative than sporadic breast cancer cases [9-12]. However, Bonadona et al. found no evidence for poorer short-term survival in BRCA1 mutation carriers com- pared with non-carriers in a prospective population- based cohort [13]. Apart from a simple interest in the epidemiological aspects of breast malignancy, knowledge of the associated mortality is important to the families of patients with BC and to clinicians and scientists © 2010 Cortesi et al; licensee BioMed Central Ltd. This is an Open Access article distributed under the terms of the Creative Commons Attribution License (http://creativecommons.org/licenses/by/2.0), which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.