A rapid immunoassay predicts BRCA1 and BRCA2 mutations in buccal cells.
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- Published online on: November 1, 2000 https://doi.org/10.3892/or.7.6.1203
- Pages: 1203-1210
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Abstract
We developed a rapid, non-invasive, and inexpensive, assay capable of identifying BRCA1 and BRCA2 (BRCA) mutations in buccal cells. To determine the predictive value of this immunoassay, a double blind study of 13 high risk individuals was conducted by two independent teams. As greater than 90% of BRCA mutations result in protein truncations, a diminished anti-carboxy immunoreactivity relative to anti-amino immunoreactivity was scored as predictive for mutation. Comparison to BRCA DNA analysis was undertaken. The positive and negative predictive values were 90% and 100% respectively (p<0.02), suggesting great promise as an inexpensive and rapid screen for BRCA mutations.
