The predictive value of BRCA1 and BRCA2 mutation testing

Genetic testing for mutations in BRCA1 and BRCA2, two genes predisposing to breast and ovarian cancers, is available to women with a relevant family h istory. The aim of this study was to estimate the positive and negative pre dictive value of clinical sequence analysis of these genes. A reference gra ph showing positive and negative predictive values over a range of pre-test risk was derived, taking into account the sensitivity and specificity of a full-sequence analysis test. High positive and negative predictive values were found for women with pre-test risk between 4% and 40%, a range of risk commonly seen in clinical testing. The predictive value of full sequence a nd single-site analysis of BRCA1 and BRCA2, therefore, compares favorably w ith other diagnostic medical tests. Our results provide a numerical estimat e of the predictive value of BRCA testing, and as such, provide a valuable tool to healthcare providers and families as they interpret BRCA1 and BRCA2 test results.