Objectives: The purpose of this study was to characterize the population referred to the Maritime Medical Genetics Service (MMGS) because of increased risk of breast and/or ovarian cancer, and to evaluate the MMGS referral criteria for this population.
Methods: We reviewed a retrospective cohort of patients at increased risk of breast and/or ovarian cancer (n = 574) with appointments between January 2001 and May 2007 at the MMGS. Data analysis was performed using descriptive statistics in Filemaker Pro 8.5v1 and Microsoft Excel.
Results: Among 574 patients, 253 (44%) had test results available at the time of data collection, and 65 (25.7%) had BRCA mutations (44 BRCA1 and 21 BRCA2). Positive test results for each referral criterion ranged from 0% to 100%.
Conclusion: Use of referral criteria at the MMGS yielded higher rates of positive test results than previously thought. It may be beneficial to expand testing criteria to ensure that everyone who may carry a mutation is offered testing.