Abstract
BackgroundThe natural history of breast cancer among BRCA2 carriers has not been clearly established. In a previous study from Iceland, positive ER status was a negative prognostic factor. We sought to identify factors that predicted survival after invasive breast cancer in an expanded cohort of BRCA2 carriers.MethodsWe studied 608 women with invasive breast cancer and a pathogenic BRCA2 mutation (variant) from four Nordic countries. Information on prognostic factors and treatment was retrieved from health records and by analysis of archived tissue specimens. Hazard ratios (HR) were estimated for breast cancer-specific survival using Cox regression.ResultsAbout 77% of cancers were ER-positive, with the highest proportion (83%) in patients under 40 years. ER-positive breast cancers were more likely to be node-positive (59%) than ER-negative cancers (34%) (P < 0.001). The survival analysis included 584 patients. Positive ER status was protective in the first 5 years from diagnosis (multivariate HR = 0.49; 95% CI 0.26–0.93, P = 0.03); thereafter, the effect was adverse (HR = 1.91; 95% CI 1.07–3.39, P = 0.03). The adverse effect of positive ER status was limited to women who did not undergo endocrine treatment (HR = 2.36; 95% CI 1.26–4.44, P = 0.01) and patients with intact ovaries (HR = 1.99; 95% CI 1.11–3.59, P = 0.02).ConclusionsThe adverse effect of a positive ER status in BRCA2 carriers with breast cancer may be contingent on exposure to ovarian hormones.
Highlights
The natural history of breast cancer among BRCA2 carriers has not been clearly established
In an Icelandic cohort study published in 2016, 285 BRCA2 carriers diagnosed from 1935 to 2012 and 570 matched noncarriers were followed until 2014, and we showed that positive ER status was an adverse prognostic factor in BRCA2 carriers.[1]
This study population consisted of 608 breast cancer patients with a pathogenic BRCA2 variant, diagnosed between 1975 and 2018 (Table 1)
Summary
The natural history of breast cancer among BRCA2 carriers has not been clearly established. METHODS: We studied 608 women with invasive breast cancer and a pathogenic BRCA2 mutation (variant) from four Nordic countries. BRCA2 mutation carriers have a high lifetime risk of breast cancer It is not well understood how the BRCA2 mutation impacts on survival or the response to treatment. In an Icelandic cohort study published in 2016, 285 BRCA2 carriers diagnosed from 1935 to 2012 and 570 matched noncarriers were followed until 2014, and we showed that positive ER status was an adverse prognostic factor in BRCA2 carriers.[1] This was in contrast to the non-carriers, for whom ER-positive patients had superior survival. We collected clinical information for BRCA2 mutation carriers with invasive breast cancer from four Nordic countries (Denmark, Iceland, Norway and Sweden). The associations between prognostic factors, including ER status, tumour grade and various treatments, and death from breast cancer were investigated
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