512PD - Portuguese high-risk breast/ovarian cancer: survival analysis

Date 01 October 2012
Event ESMO Congress 2012
Session Public health and familial cancer
Topics Ovarian Cancer
Breast Cancer
Hereditary Syndromes
Presenter Patricia Machado
Authors P. Machado1, A. Clara2, A. Mayer3, S. Fragoso1, S. Santos1, A. Luís4, A. Opinião4, J. Parreira5, C. Simões5, F. Vaz4
  • 1Molecular Biology Research Unit, Portuguese Institute of Oncology of Lisbon, 1099 - Lisbon/PT
  • 2Medical Oncology, Portuguese Institute of Oncology, Lisbon/PT
  • 3Southern Portuguese Cancer Registry (ror-sul), Portuguese Institute of Oncology of Lisbon, Lisbon/PT
  • 4Medical Oncology, Breast Cancer Risk Evaluation Clinic, Instituto Português de Oncologia de Lisboa, 1099 - Lisbon/PT
  • 5Breast Cancer Risk Evaluation Clinic, Instituto Português de Oncologia de Lisboa, 1099 - Lisbon/PT



Even if only 5–10% of breast cancer (BC) is due to genetic predisposition (mainly related to BRCA1/2 mutations), its incidence, the high risk of these families and the possible prophylactic interventions make the study of these cases relevant. Scarce data suggest different survival in BRCA1 and BRCA2 associated ovarian cancer (OC). We aimed to analyze the survival of our BRCA1/2 BC and OC survivors.

Table: 512PD

Female breast cancer Ovarian cancer
N 33 20 35 302 2 8 8 12
Mean age at diagnosis (y) 43,5 40,1 45,9 68,3 47,2 55,8
Mean OS (months) 107,59 145,23 144,70 78,47 40,45 57,92 86,48 64,14
N of deaths 5 4 7 51 1 4 1 7

Patients and methods

Review of all BRCA1/2 cancer survivors identified until September 2011. All patients underwent pre and post-test counselling and were pre-screened for the c.156_157insAlu BRCA2 Portuguese founder mutation [Machado et al, 2007]. Negative patients were further analysed by CSCE and MLPA. Date of diagnosis and survival was obtained for 3 BRCA positive patients subgroups: BRCA1, BRCA2 (non c.156_157insAlu) and Alu (c.156_157insAlu). The control group (BRCAwt ) consisted on index patients screened during the same period, who were not BRCA1/2 positive and for whom we found information in the Southern Portuguese Cancer Registry (ROR-Sul).


Nine hundred and eighty consecutive index patients were screened and 139 BRCA1/2 positive families were identified: 44 BRCA1 and 95 BRCA2 (44 c.156_157insAlu). A total of 99 BC (88 female + 11 male) and 18 OC were identified in these families. Mean age at diagnosis and overall survival data for the 3 BRCA subgroups and control, regarding BC and OC are resumed in table1. Further clinical characterization (stage, presence of multiple cancers, prophylactic surgeries) is under way. Table1. Overall survival in pts with BC and OC: BRCA1/2 carriers vs wtBRCA1/2.


BC was the more frequent type of cancer in these patients and BRCA1/2 carriers show a higher overall survival comparatively to BC pts with wt BRCA (P = 0,0197). The overall survival for OC is better for BRCA2 carriers ((P = 0,0310). OC numbers are small and more follow up of these and future identified carriers are needed.


All authors have declared no conflicts of interest.