Abstract

BackgroundMutations in the p53 gene are the most common genetic alterations in human primary breast carcinoma and these mutations are often associated with worse prognosis and chemo/radioresistance. Patients and methodsThe analysis of the p53 gene was performed by fluorescence-assisted mismatch analysis in 13 consecutive high-risk primary breast cancer (HR-BC) patients with 10 or more involved axillary nodes to evaluate its prognostic value. ResultsThree p53 mutations (23%) and four allelic variants were detected. After a median follow-up of 52 months the HR-BC disease-free survival (DFS) was 51% and overall survival 79%. All patients harboring a p53 mutation (p53mut) relapsed within 10 months of the median DFS while 67% of those showing a wild-type p53 status (p53wt) survive disease-free at a median follow-up of 43 months. One p53mut patient is still alive while all the p53wt patients survive at 56 months median follow-up. Two out of the four p53wt relapsing breast cancer patients showed the Arg72Pro allelic variant; one of these died at 75 months. Conclusionsp53 mutations may help identify a subset of very high risk breast cancer patients (vHR-BC) with worse prognosis.

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