A risk prediction algorithm for ovarian cancer incorporating BRCA1/2, common alleles & other familial effects

open access

Risk models that incorporate both BRCA1 and BRCA2 mutations and other sources of variation are required to provide accurate estimates of mutation carrier probabilities and cancer risk for use in genetic counselling. Existing risk-prediction models for familial OvC such as Breast and Ovarian Analysis of Disease Incidence and Carrrier Estimation Algorithm (BOADICEA) or BRCAPRO3 ,4 assume that all familial aggregation to OvC is due to BRCA1 and BRCA2 mutations but this does not reflect our understanding of OvC genetic susceptibility. As a consequence, these models may underestimate OvC risks in women without mutations in these genes. Therefore, how to counsel women with family history of OvC but without BRCA1 or BRCA2 mutations has remained a major unresolved question in clinical cancer genetics.....