Topic:
 
Issue Section:
 Biomarkers, translational research and precision medicine
Background: The value of a high-risk surveillance program for mutation carriers compared to non-carriers at high familial breast cancer risk is not well understood. The Breast and Ovarian Cancer Risk Management Clinic (BOCRMC) was established to provide multimodality screening and risk management strategies. The purpose of this study was to compare breast cancer diagnoses for BRCA1, BRCA2 and other germline mutation carriers versus non-carriers attending the BOCRMC.
Methods: Clinical data from mutation carriers and non-carriers with a ≥ 25% lifetime risk of developing breast cancer who attended between 2010 and 2018 were extracted from clinic records and compared. The pattern and mode of detection of breast cancers were determined.
Results: A total of 206 mutation carriers and 305 non-carriers attended the BOCRMC and underwent screening on at least one occasion. Median age was 37 years. After a median follow-up of 34 months, 15 (7 invasive) breast cancers were identified in mutation carriers (median age: 45 years) and 7 (6 invasive) in non-carriers (median age: 48 years). Of these, 90.9% were detected by annual screening, while 9.1% were detected as interval cancers among BRCA1 mutation carriers. Median size of the invasive breast cancers was 11 mm. Most (76.9%) were axillary node negative. In women aged 25-49 years, the annualised breast cancer incidence rate was 1.6% in BRCA1, 1.4% in BRCA2 mutation carriers and 0.5% in non-carriers.
Conclusions: Screening was effective at detecting early-stage cancers in both groups. The incidence of breast cancer events in young non-carriers was substantially higher than in the general population. This justifies ongoing management through a specialty clinic although further research to personalise risk assessment in non-carriers is required.
Legal entity responsible for the study: G. Bruce Mann.
Funding: Has not received any funding.
Disclosure: All authors have declared no conflicts of interest.
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