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Introduction and Objective: Data from long term follow up of BRCA1/2 carriers is scarce and is mainly related to BRCA1 women. Our multidisciplinary program targets both women and men for counselling towards BRCA1/2 screening and inclusion in clinical follow up. In here we review all cancer diagnoses observed in our BRCA1/2 cohort during follow up. Methods: Review of individual records of BRCA1/2 carriers registered from January 2000 to December 2010. Follow up was calculated since BRCA1/2 post-test counselling until the last visit to the Clinic. All new cancer diagnoses and preventive surgeries were registered. Results: Two-hundred and fifty nine BRCA1/2 carriers (206 females and 53 males) were diagnosed with BRCA1/2 mutations (42 BRCA1 and 217 BRCA2). Medium follow up for all population is 25 months (1-98). At the date of initial BRCA1/2 diagnosis 99 women and 14 men were CS. Female population: Eighty-eight female CS had been previously diagnosed with breast cancer (18 bilateral cases), 18 with ovarian cancer, and 1 with biliary tract cancer. Preventive surgeries in the CS female population were: bilateral adnexectomy (33 pts) and prophylactic contralateral mastectomy (10 pts). In this CS female population, new cancers, during follow up were: Contralateral breast cancer (4 cases), peritoneal cancer (2 cases in pts with previous prophylactic surgery) and skin non-melanoma cancers (2 cases). In female HTR, 23 preventive bilateral adnexectomies and 20 bilateral mastectomies were performed. Cancer diagnoses during follow up were: breast (11), peritoneum (1 in a pt with previous prophylactic surgery), gastric (1) and M3 leukemia (1). Global failure of prophylactic adnexectomy, so far (CS+HTR): 3/56 (5%). Male population: The medium age for male CS is 73 yrs and for male HTR is 52 yrs. Male CS had mostly been previously diagnosed with BC (12; 4 bilateral) and prostate cancer (4). Other previous cancers: gastric (2), skin (2: 1Melanoma, 1 non-Melanoma), colorectal (1). One BRCA2 man with gynecomastia and prostate cancer was submitted to reduction mastectomy, as a preventive surgery. During follow up, we diagnosed second and third cancers in male CS: breast (2), prostate (6) and gastric (1). Only 1 male HTR was diagnosed with cancer: skin non-melanoma. Conclusion: The proportion of second and third cancer diagnoses in the male BRCA2 CS population is higher than in the female BRCA1/2 CS population. Small numbers and the availability of preventive surgery for women influence this observation. No data from preventive mastectomy exists for males (we have one case). The low frequency of cancer in male HTR may be due to younger age and other unknown modifier factors. Longer follow is needed. Citation Information: Cancer Res 2011;71(24 Suppl):Abstract nr P2-13-11.

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