Abstract

BackgroundTo evaluate the predictors of mortality, including ER status, in women with a BRCA2 mutation and breast cancer.MethodsEligible participants were identified from within two longitudinal cohorts. These patients were selected because they were diagnosed with breast cancer between 1975 and 2015 and carried a BRCA2 mutation. Data were abstracted from the medical record and pathology report. We analysed the effects of ER status and other variables on breast cancer specific survival using a Cox proportional hazards model.ResultsThree hundred ninety women with breast cancer and a BRCA2 mutation were included in the analysis. The mean follow-up time was 12.3 years (range 1–39 years) and 89 subjects died (22.8%). In the multivariate analysis, women with ER-positive tumours were more likely to die than women with ER-negative tumours (HR 2.08, 95% CI 0.99–4.36, p = 0.05), and this was of borderline significance. For the 233 women with ER-positive tumours the 20-year survival rate was 62.2%, compared to 83.7% for 58 women with ER-negative tumours (p = 0.03).ConclusionsThe majority of women with a BRCA2 mutation present with ER-positive breast cancer, and for these women, prognosis may be worse than for BRCA2 carriers with ER-negative breast cancer.

Highlights

  • This difference could be attributed to the fact that BRCA2 mutation carriers present with more aggressive tumours compared to women without a mutation,[2] and BRCA2 oestrogen receptor (ER)-positive breast cancers tend to be luminal B4 and have higher oncotype recurrence scores compared to sporadic breast cancers.[5,6,7]

  • The variable that most strongly predicted mortality in women with BRCA2associated breast cancer was positive ER status; in the multivariate analysis, women with ER-positive tumours were more likely to die than women with ER-negative tumours (HR 2.08, 95% CI 0.99–4.36, p = 0.05)

  • In this international cohort study of 390 breast cancer patients with a BRCA2 mutation, positive ER status was associated with a relatively poor prognosis compared to ER-negative status

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Summary

Introduction

Women with sporadic breast cancer experience better survival if they present with ER-positive tumours, compared to women with ER-negative tumours.[8,9] it has recently been reported that the opposite relationship is observed in women with BRCA2-. To evaluate the predictors of mortality, including ER status, in women with a BRCA2 mutation and breast cancer. METHODS: Eligible participants were identified from within two longitudinal cohorts These patients were selected because they were diagnosed with breast cancer between 1975 and 2015 and carried a BRCA2 mutation. CONCLUSIONS: The majority of women with a BRCA2 mutation present with ER-positive breast cancer, and for these women, prognosis may be worse than for BRCA2 carriers with ER-negative breast cancer

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