Survival in hereditary breast cancer associated with germline mutations ofBRCA2

Purpose: Breast cancer in BRCA1 and BRCA2 gene-mutation carriers may differ from so-called sporadic breast cancer in clinical features and behavior. T hese potential differences may be of importance for the prevention, screeni ng, and, ultimately treatment of breast cancer in women with such germline mutations, Thus far, there have been very few studies on the survival of BR CA2-associated breast cancer patients. Patients and Methods: We determined the disease-free and overall survival o f 28 breast cancer patients from 14 consecutive families with eight differe nt BRCA2 germline mutations. These patients' survival and tumor characteris tics were compared with chose of a control group of 112 sporadic breast can cer patients matched to them by age and year of diagnosis. Results: The 5-year disease-free survival was 52% for each group (P = .91); the overall survival was 74% for BRCA2 carriers and 75% for sporadic cases (P = .50), At the time of diagnosis, tumors from the BRCA2 carriers were b orderline significantly larger in comparison to the tumors in sporadic case s (P = .05), but axillary nodal status was not significantly different in t he two groups (node-negativity, 63% v 52.8%, respectively; P = .34), With r espect to steroid receptor states, BRCA2-associated tumors were more likely to be steroid receptor-positive, especially regarding progesterone recepto r status (100% v 76.7% positive, respeetively; P = .06), Stage-adjusted rec urrence and death rates were nonsignificantly better for BRCA2 cases (hazar d ratios of 0.84 and 0.59 [P = .61 and P = .19], respectively). in contrast , after 5 years, the rate of metachronous contralateral breast cancer in BR CA2 patients was 12% (v 2% in controls; P = .02). Conclusion: Patients with hereditary breast cancer due to BRCA2 have a simi lar prognosis when compared with age-matched sporadic breast cancer patient s. Contrary to our previous observation regarding BRCA1-associated breast c ancer, BRCA2 tumors tended to be steroid receptor-positive, instead of ster oid receptor-negative. (C) 1999 by American Society of Clinical Oncology.