title: A rapid immunoassay predicts BRCA1 and BRCA2 mutations in buccal cells.
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.
authors.affiliation: Department of Plant and Soil Sciences, University of Massachusetts, Amherst, MA, USA.
authors.forename: T J
authors.initials: TJ
authors.lastname: Byrne
authors.forename: M T
authors.initials: MT
authors.lastname: Reece
authors.forename: L A
authors.initials: LA
authors.lastname: Adams
authors.forename: D E
authors.initials: DE
authors.lastname: Hoffman
authors.forename: M A
authors.initials: MA
authors.lastname: Lane
authors.forename: G M
authors.initials: GM
authors.lastname: Cohn
mesh_terms: D019313:BRCA1 Protein / Q000032:analysis / Q000235:genetics; D024682:BRCA2 Protein; D002610:Cheek; D004247:DNA / Q000032:analysis / Q000235:genetics; D004252:DNA Mutational Analysis; D004311:Double-Blind Method; D005260:Female; D019398:Genes, BRCA1 / Q000235:genetics*; D020022:Genetic Predisposition to Disease / Q000235:genetics; D005820:Genetic Testing / Q000379:methods*; D006801:Humans; D007118:Immunoassay / Q000379:methods*; D009061:Mouth Mucosa / Q000737:chemistry* / Q000166:cytology; D009154:Mutation / Q000235:genetics*; D009363:Neoplasm Proteins / Q000032:analysis / Q000235:genetics*; D018807:Polymorphism, Single-Stranded Conformational; D011237:Predictive Value of Tests; D012307:Risk Factors; D012680:Sensitivity and Specificity; D014157:Transcription Factors / Q000032:analysis / Q000235:genetics*
chemical_list: D019313:BRCA1 Protein; D024682:BRCA2 Protein; D009363:Neoplasm Proteins; D014157:Transcription Factors; D004247:DNA