A rapid immunoassay predicts BRCA1 and BRCA2 mutations in buccal cells

We developed a rapid, non-invasive, and inexpensive, assay capable of ident ifying BRCA1 and BRCA2 (BRCA) mutations in buccal cells. To determine the p redictive Value of this immunoassay, a double blind study of 13 high risk i ndividuals was conducted by two independent teams. As greater than 90% of B RCA mutations result in protein truncations, a diminished anti-carboxy immu noreactivity relative to anti-amino immunoreactivity was scored as predicti ve for mutation. Comparison to BRCA DNA analysis was undertaken. The positi ve and negative predictive values were 90% and 100% respectively (p<0.02), suggesting great promise as an inexpensive and rapid screen for BRCA mutati ons.