515P - Clinical presentation in BRCA1/2 mutation carriers: a single-institution experience

Date 30 September 2012
Event ESMO Congress 2012
Session Poster presentation II
Topics Biomarkers
Familial Cancer
Presenter Andrea Fontana
Authors A. Fontana1, P. Aretini2, I. Ferrarini3, E. Bona4, I. Stasi5, E. Landucci6, G. Allegrini7, M. Roncella8, M.A. Caligo2, A. Falcone9
  • 1U.o. Oncologia Medica 2 Universitaria, Polo Oncologico, Ospedale S. Chiara, AOUP, 56100 - Pisa/IT
  • 2Divisione Di Patologia Dipartimento Di Medicina Di Laboratorio E Diagnostica Molecolare, sezione genetica oncologica, 56010 - pisa/IT
  • 3Oncologia Medica Ii, Polo Oncologico, Ospedale S. Chiara, AOUP, 56100 - Pisa/IT
  • 4U.o. Oncologia Medica, Polo Oncologico, Ospedale S. Chiara, AOUP, 56100 - Pisa/IT
  • 5Medical Oncology, Polo Oncologico, Ospedale S. Chiara, AOUP, 56100 - Pisa/IT
  • 6Polo Oncologico Ospedale S.chaira, Oncologia medica I, 56010 - pisa/IT
  • 7Medical Oncology Unit, OSPEDALE "F. LOTTI", PONTEDERA (PI)/IT
  • 8Aoup S.chiara, UO senologia, 56010 - pisa/IT
  • 9Dept. Of Oncology-presidio Ospedaliero, Polo Oncologico, Ospedale S. Chiara, AOUP, 56100 - Pisa/IT

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.