Abstract
BACKGROUND: Globally, resources for genomic services vary. Current National Comprehensive Cancer Network (NCCN) breast and ovarian genetic/familial high risk assessment criteria for further genetic risk evaluation are useful, but lack specificity for reliably excluding patients with low a priori risk. This may result in patient overload in lesser-equipped genetics clinics. Since we use Manchester and the Breast and Ovarian Analysis of Disease Incidence and Carrier Estimation Algorithm (BOADICEA) risk assessment models in our genetics clinic to determine whether genetic testing is warranted, we chose Manchester and BOADICEA as the reference standard to compare how the NCCN breast and ovarian genetic/familial high risk assessment criteria for further genetic risk evaluation performs against these two risk assessment models in referring breast cancer patients for genetic evaluation. METHODS: Breast cancer patients diagnosed from 2009-2011 were assessed using the NCCN criteria, Manchester and BOADICEA. Logistic regression and receiver operating characteristic (ROC) analysis were used to compare the NCCN criteria versus the Manchester and BOADICEA scoring systems in identifying high-risk patients. RESULTS: A total of 666 patients were included in the study. Percentages of high-risk patients resulting from Manchester and BOADICEA were 1.80% and 2.55%, respectively. Among the NCCN criteria, breast cancer and ≥1 close relatives with breast cancer at ≤50 years of age correlated best with Manchester and/or BOADICEA (c-statistic =0.831) with a false negative rate of 1.0%. CONCLUSIONS: Breast cancer at any age and ≥1 close relative with breast cancer at ≤50 years of age exhibited the highest correlation with Manchester and/or BOADICEA, promising greater specificity compared to the other NCCN criteria for segregating high risk, Asian breast cancer patients for referral to a genetics clinic, nevertheless recognizing the inherent limitations of the scoring systems.