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Background: Breast cancer remains the most frequent cancer diagnosis worldwide in women’s population, however the germline mutations is responsible for a small proportion of these cases. The management and outcome of these patients is essentially influenced by their cancer diagnosis and genetic assessment as well.
Methods: We performed a retrospective review study in a single women center during a period of 6 years to assess the contribution of germline mutation in treatment, prognosis and survival of breast cancer patients. Statistics were collected from patients’ medical records and genetics department.
Results: From the total of patients treated for breast cancer in out department during 2017 and 2022, 243 were eligible for genetic testing, BRCA1/2 or extended panel taking into consideration family history. 5% of the patients from our cohort were carriers of a pathogenic germline mutation; 78% from these patients were premenopausal and 54% were with triple negative disease; therefore 62% started treatment with systemic neoadjuvant chemotherapy and 32% upfront surgery. In our lot, 48% of the cases had mastectomy, 16% of the cases had prophylactic contralateral mastectomy and 7% had bilateral salpingo-oophorectomy. Less than 2% of the cases were metastatic and treated with PARP inhibitors and mortality rate is very small in our lot.
Conclusion: Carriers of germline mutation and breast cancer diagnosis may have a greater benefit from tailored approach surgical and oncological with better long-term outcomes.