Clinical outcomes of female breast cancer according to BRCA mutation status

Publication date: August 2017
Source:Cancer Epidemiology, Volume 49
Author(s): Deirdre P. Cronin-Fenton, Anders Kjærsgaard, Mette Nørgaard, Inge Søkilde Pedersen, Mads Thomassen, James A. Kaye, Lia Gutierrez, Claire Telford, Jan Lewis, Jerzy E. Tyczynski, Henrik Toft Sørensen
BackgroundTo investigate breast cancer prognosis (disease-free (DFS) and overall survival (OS)) among carriers of germline BRCA mutations (BRCAm) in Denmark.MethodsWe identified all women in Central and Northern Denmark diagnosed with breast cancer during 2004–2011. We retrieved information on germline BRCAm testing from Clinical Genetics departments and clinical/treatment characteristics from population-based medical registries. Follow-up for recurrence, new primary cancer, and mortality extended from 180days after diagnosis until 31/12/2012. We estimated median DFS and OS and five-year cumulative incidence and incidence rates (IR/1000 person-years), and 95% confidence intervals (95% CI), for each outcome.ResultsAmong 9874 patients, 523 (5%) underwent BRCA testing—90 were BRCAm carriers, 433 were BRCA wildtype (BRCAwt). Compared with BRCAwt women, BRCAm carriers were younger, had lower stage, and ER- and HER2- tumors. Median time from diagnosis to BRCA testing was 0.91 years and 1.3 years in BRCAm and BRCAwt women; median follow-up to first event was 3.9 and 3.4 years, respectively. Five-year DFS and OS were higher in BRCAm than BRCAwt women: 88% (95%CI=78.3–93.5) vs. 75.3% (95%CI=70.2–79.6) and 97.8% (95%CI=91.4–99.4) vs 92.2% (95%CI=88.5–94.7), respectively. Five-year IRs of recurrence were 36.7/1000 person-years (95%CI=15.8–72.2) in the BRCAm cohort vs. 58.4 (95%CI=42.9–77.6) in the BRCAwt cohort.ConclusionsBRCAm carriers may have a better prognosis than BRCAwt women. However, limited testing conducted mainly during follow-up, yielded low numbers for precise estimations, and may be attributable to selection bias.



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