Contralateral breast cancer in patients carrying mutations in the BRCA1/2 gene

Aim: This study aim was to offer a better view of breast cancer (BC) in Romanian patients and to identify the most frequent BRCA1/2 germline mutations in a cohort of Romanian patients with contralateral BC (CBC). This is one of the first comprehensive studies to determine the contribution of BRCA1/2 germline mutations to CBC development in the Romanian population. Patients, Materials and Methods: This is a prospective study and included 281 patients with BC. We established the histological type and immunohistochemical profile for these breast tumors. We identified mutations in the BRCA1/2 oncogenes in those patients diagnosed with CBC. We investigated correlations between the BRCA1/BRCA2 genes mutation and the increased risk of collateral BC. Results: The most common histological type observed was ductal carcinoma. Our study group of tumors was classified into the following BC subtypes: 84.69% triple-negative BC, 9.60% Luminal A, 3.55% human epidermal growth factor receptor 2 (HER2)-positive and 2.13% Luminal B. Forty-one cases were diagnosed with collateral BC. For these 41 cases, genetic testing was performed for the BRCA1 and BRCA2 genes and we obtained seven cases with negative