Clinical presentation in BRCA1/2 mutation carriers: a single-institution experience.

ABSTRACT Background Genetic testing for BRCA1/2 mutations may be useful for prevention and close surveillance as well for treatments selection in cancer patients. Methods Between May 2001 and July 2011 we identified 206 BRCA1/2 mutations carriers: 145 (70%) affected and 61 (30%) unaffected. Of the 145 patients 87 (60%) were found to carry a BRCA1 mutation and 58 (40%) BRCA2. One hundred-twenty-four patients (85%) were diagnosed with breast cancer (BC) and among them 73 (59%) tested BRCA1-positive and 51 (41%) BRCA2-positive. Bilateral BC was found in 26 (21%) patients (46% BRCA1, 54% BRCA2). Ovarian tumor was identified in 30 (21%) women (83% BRCA1-positive), while 12 (8%) had breast plus ovarian cancer (92% BRCA1-positive). Others tumors (oesophagus, pancreas, thyroid): 3 (2%) patients. Results We obtained clinical and pathological data from 38 BC patients. Median age: 40 years (range 23–65); male/female: 1/37. Histology: ductal carcinoma 32 (84%) patients, lobular 1 (3%) patient, medullary 2 (5%) patients, in situ carcinoma 3 (8%) patients. Most of the patients showed stage I BC (19 patients; 50%), while 3 (8%) showed a metastatic spread at the time of diagnosis. Overall 18 (47%) patients had triple negative breast cancer (TNBC), 18 (47%) had hormonal receptor (HR) positive disease, 1 (3%) HER2-positive/HR-negative cancer and 1 was not evaluable. Interestingly, 20 patients were younger than 40 years and among them 11 (55%) had TNBC (91% BRCA1-carriers). Twenty-six patients received neoadjuvant/adjuvant treatments (11 anthracycline-taxane; 8 anthracycline-based; 5 CMF and 2 docetaxel-cyclophosphamide). Among the 7 patients treated with neoadjuvant chemotherapy 2 pCR (ypT0N0) and 5 PR were reported. pCRs were observed in 1 TN and 1 HR-positive BRCA1-carriers, both treated with anthracycline-taxane. Metachronous BC was found in 6 (16%) patients with a median time to diagnosis of 12 years (range 5-22). Prophylactic mastectomy was performed in 4 (10%) patients while 6 (16%) underwent prophylactic bilateral salpingo-oophorectomy. Conclusions Our data seems consistent with previous literature. Interestingly the majority of younger BC patients showed a BRCA1-TN phenotype. Disclosure All authors have declared no conflicts of interest.