Patientes à haut risque, traitées pour une tumeur mammaire localement avancée par chimiothérapie néoadjuvante : comparaison entre les patientes porteuses ou non d’une mutation sur les gènes de prédisposition

Abstract : Introduction: BRCA mutation carriers have a higher breast cancer recurrence rate after 5 years and a higher contralateral recurrence rate comparing to non-carriers patients. After neoadjuvant chemotherapy for locally advanced cancer, recurrence rates are unfortunately unknown. Objective: compare in high-risk breast cancer patients, treated by neoadjuvant chemotherapy, the rate of local and contralateral recurrence between mutation carriers and non-carriers. Methods: this research is a retrospective study, which included all patients managed at the Bergonié Institute. Only locally advanced breast cancer patients who were treated by neoadjuvant chemotherapy, between 2007 and 2015, were selected. All patients had oncogenetic research. Mutational research was directed at least for BRCA genes but with expansion to a panel of in total 25 genes. Results: A total of 122 patients were included. 28 patients were carriers (19 BRCA 1, 7 BRCA 2, 1 TP 53, 1 MSH6), 94 were non-carriers. Fifteen mutations carriers were treated by conservative surgery and three had local recurrence (2 BRCA 1, 1 BRCA 2). Among the 67 non-carriers treated by conservative surgery only two had local recurrence (p = 0.0403). Of the 28 mutation carriers, two had a contralateral recurrence (1 BRCA 1, 1 TP 53) and of the 94 non-carriers, only one patient had a controlateral recurrence (p = 0.13). Median time to local recurrence was 4.05 years and 7.94 years for contralateral recurrence. Conclusion: after neoadjuvant chemotherapy and conservative surgery, mutations carriers have a higher 5-years local recurrence rate of breast cancer.
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Master Thesis
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Jeanne Leroux. Patientes à haut risque, traitées pour une tumeur mammaire localement avancée par chimiothérapie néoadjuvante : comparaison entre les patientes porteuses ou non d’une mutation sur les gènes de prédisposition. Médecine humaine et pathologie. 2018. ⟨dumas-02077484⟩

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