Prognosis and clinical presentation of BRCA2-associated breast cancer

54 female breast cancer patients from 22 families with BRCA2 germ line muta tions from Sweden and Denmark were compared with 214 age- and date of diagn osis-matched controls identified among breast cancer patients from South Sw eden. At diagnosis, BRCA2-associated cases were more often node-positive (N +). OR = 1.9 (95% confidence interval (CI)= 1.0-3.6; P = 0.036), and were more often clinical stage IV: OR = 4.6 (95% CI = 1.3-17; P = 0.021) than th e controls. Bilateral disease was also more common among the BRCA2-associat ed cases: OR = 2.4 (95% CI = 1.1-5.3; P = 0.027). Breast cancer-specific su rvival (BCSS) was significantly worse among the BRCA2-associated cases: RR = 2.0 (95% CI = 1.2-3.4; P = 0.010). When stage was corrected for in a mult ivariate analysis, BCSS was no longer significantly worse for the BRCA2-ass ociated cases: RR = 1.6 (95% CI = 0.85-3.1). The corresponding effect after correction for bilateral disease was: RR = 1.8 (95% CI = 1.0-3.1; P = 0.03 4). The unfavourable prognosis in BRCA2-associated breast cancer seems, to a great extent, to be a consequence of the higher clinical stage at diagnos is. The increased presence of bilateral cancers appears to have less impact on survival in this group of hereditary breast cancer. Data presented here needs to be taken into account when counselling healthy carriers of BRCA2 germ line mutations. (C) 2000 Elsevier Science Ltd. All rights reserved.