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. 2014 Feb;144(1):133-42.
doi: 10.1007/s10549-014-2842-9. Epub 2014 Jan 30.

Long-term prognosis of early-onset breast cancer in a population-based cohort with a known BRCA1/2 mutation status

Martin P Nilsson  1 , Linda Hartman, Ingrid Idvall, Ulf Kristoffersson, Oskar T Johannsson, Niklas Loman
Affiliations

Long-term prognosis of early-onset breast cancer in a population-based cohort with a known BRCA1/2 mutation status

Martin P Nilsson et al. Breast Cancer Res Treat. 2014 Feb.

Abstract

All women in the South Sweden Health Care Region with breast cancer diagnosed aged less than 41 during the period between 1990 and 1995 were contacted in 1996 and offered germline mutation analysis of the BRCA1 and BRCA2 genes. Mutation carriers (n = 20) were compared with noncarriers (n = 201) for overall survival (OS) and risk of contralateral breast cancer (CBC). Mutation carriers were younger at diagnosis and more likely to have ER-negative, PgR-negative and grade III tumors. Median follow-up was 19 years. The 5-, 10-, 15-, and 20-year OS were 60, 45, 39, and 39 % for mutation carriers and 82, 70, 59, and 53 % for noncarriers, respectively (5-year log-rank P = 0.013; 10-year P = 0.008; 15-year P = 0.020; and 20-year P = 0.046). In univariable analysis, there was a trend for an inferior OS for mutation carriers (HR 1.8; 95 % CI 1.0-3.3). When stratified for use of (neo)adjuvant chemotherapy, an inferior OS was significant only for the subgroup of patients who did not receive chemotherapy (HR 3.0; 95 % CI 1.2-7.7). In multivarible analysis, BRCA1/2 mutation status was a significant predictor of OS when adjusting for tumor stage, age, and use of chemotherapy, but not when ER status was also included in the model. The 15-year cumulative risk of CBC was 53 % for mutation carriers and 10 % for noncarriers (HR 5.9; 95 % CI 1.9-18.6); among the noncarriers the risks were 5, 22, and 30 % for patients without close relatives having breast cancer, with second-degree relatives having breast cancer, and with firstdegree relatives with breast cancer, respectively. In conclusion, the poor prognosis of young BRCA1/2 mutation carriers with breast cancer is mainly explained by the prevalent occurrence of negative prognostic factors rather than mutation status per se, and can to at least some extent be abrogated by the use of chemotherapy.

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Figures

Fig. 1
Fig. 1
Overall survival for all patients
Fig. 2
Fig. 2
Overall survival for patients with ER-negative tumors
Fig. 3
Fig. 3
Overall survival for patients treated with (neo)adjuvant chemotherapy
Fig. 4
Fig. 4
Overall survival for patients not treated with (neo)adjuvant chemotherapy
See this image and copyright information in PMC

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