Abstract
INTRODUCTION: Previous studies have suggested an additional increased risk for types of malignancies other than breast and ovarian cancer for female BRCA1/2 GPV carriers, but risk estimates vary widely. The aim of this study was to investigate if female BRCA1/2 GPV carriers have an increased risk of malignancies other than breast and tubal/ovarian cancer at an early age. METHODS: Prospectively collected data from female BRCA1/2 GPV carriers in our hospital-based data/biobank were linked to the PALGA Dutch Pathology Database. Incidences of malignancies occurring before 60 years of age were compared to crude rates/100.000 person-years in the Netherlands, stratified by age and calendar time. Standardized incidence ratios (SIRs) were calculated with 95% confidence intervals (95%CIs). RESULTS: In 1347 women, 82 malignancies other than breast and tubal/ovarian cancer were detected in patients under 60 years of age in 37,068 person-years. An increased risk of cancer in general (SIR:2.25, 95%CI:1.78-2.80, p < 0.001), head and neck cancer (SIR:3.17, 95%CI:1.03-7.39, p < 0.05), gastrointestinal cancer (SIR:1.96, 95%CI:1.14-3.13, p < 0.05), and female genital cancer (SIR:2.48, 95%CI:1.61-3.65, p < 0.001) was found. CONCLUSIONS: If confirmed in larger, prospective studies that include the role of bias and previous cancer treatment, awareness of the possible increased risks of head and neck, gastrointestinal, and female genital cancer may be used to tailor clinical guidelines for female BRCA1/2 GPV carriers.