Abstract
IntroductionThere are limited data comparing the OncotypeDX© Recurrence Score (RS) among BRCA mutation carriers and patients with sporadic breast cancer. AimTo compare RS results among BRCA mutation carriers and patients with sporadic breast cancer in oestrogen receptor positive (ER+), human epidermal growth factor receptor-2 negative (HER2−) breast cancer. MethodsA systematic review was performed in accordance with PRISMA and MOOSE guidelines. Retrospective cohort studies comparing RS in BRCA mutation carriers and cases of sporadic cancer were included. Dichotomous variables were pooled as odds ratios (ORs) and associated 95% confidence intervals (CIs) using the Mantel–Haenszel method. ResultsFive studies involving 4286 patients were included with a mean age of 60 years (range 22–85). Overall, 7.8% were BRCA mutation carriers (333/4286). The mean RS was 18.0 (range 0–71), and the mean RS in BRCA carriers was 25 (range 10–71) versus 18.4 in cases of sporadic disease (range 0–62). Patients with sporadic cancers were more likely to have RS < 18 (OR 0.27, 95% CI 0.14–0.51, P = 0.010). BRCA mutation carriers were more likely to have RS 18–30 (OR 1.74, 95% CI 1.28–2.37, P < 0.001) and RS > 30 (OR 3.71, 95% CI 2.55–5.40, P < 0.001). ConclusionThere is an increased likelihood of high-risk RS among patients with known germline BRCA mutations when compared to patients developing sporadic ER+/HER2-early breast cancer. This study offers insight into genomic testing results within BRCA mutation carriers which may be useful in counselling patients with BRCA mutations in future practice.
Highlights
There are limited data comparing the OncotypeDXa Recurrence Score (RS) among BRCA mutation carriers and patients with sporadic breast cancer
This systematic review and metaanalysis of current evidence is the first outlining the impact of BRCA germline mutations on RS testing within the setting of early-stage ERþ/HER2À breast cancer
Results of the current analysis reject the author’s null hypothesis; there was a stepwise increase in the proportion of patients with hereditary breast and ovarian cancer syndrome (HBOCS) as RS testing results increased from low, to intermediate, to high risk groups
Summary
There are limited data comparing the OncotypeDXa Recurrence Score (RS) among BRCA mutation carriers and patients with sporadic breast cancer. BRCA mutation carriers who develop early-stage ERþ disease are treated to those with sporadic disease [7], despite an increased risk of poorer outcomes: In their recent analysis, Vocka et al [8] demonstrated that patients with BRCA mutations developed increased rates of disease recurrence and mortality compared to their counterparts within the setting of ERþ disease Highlights from such studies encourage robust systemic chemotherapy prescription for such patients possessing BRCA mutations [9], primarily due to the perceptions of increased sensitivity to chemotherapy, poorer projected clinico-oncological outcomes and an overall increased tendency to develop tumours of aggressive clinicopathological characteristics [10,11]. Neither expert consensus statements nor best practice guidelines endorse such aggressive treatment strategies for BRCA mutation carriers diagnosed with early-stage ERþ disease [7,12]
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