title: The predictive value of BRCA1 and BRCA2 mutation testing.
abstract: Genetic testing for mutations in BRCA1 and BRCA2, two genes predisposing to breast and ovarian cancers, is available to women with a relevant family history. The aim of this study was to estimate the positive and negative predictive value of clinical sequence analysis of these genes. A reference graph 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 and single-site analysis of BRCA1 and BRCA2, therefore, compares favorably with other diagnostic medical tests. Our results provide a numerical estimate 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.
authors.affiliation: Department of Medical Informatics, University of Utah, Salt Lake City 84108, USA.
authors.forename: A
authors.initials: A
authors.lastname: Bansal
authors.forename: G C
authors.initials: GC
authors.lastname: Critchfield
authors.forename: T S
authors.initials: TS
authors.lastname: Frank
authors.forename: J E
authors.initials: JE
authors.lastname: Reid
authors.forename: A
authors.initials: A
authors.lastname: Thomas
authors.forename: A M
authors.initials: AM
authors.lastname: Deffenbaugh
authors.forename: S L
authors.initials: SL
authors.lastname: Neuhausen
mesh_terms: D019313:BRCA1 Protein / Q000235:genetics*; D024682:BRCA2 Protein; D001943:Breast Neoplasms / Q000175:diagnosis / Q000235:genetics*; D004252:DNA Mutational Analysis / Q000592:standards*; D005069:Evaluation Studies as Topic; D005260:Female; D006801:Humans; D009363:Neoplasm Proteins / Q000235:genetics*; D010051:Ovarian Neoplasms / Q000175:diagnosis / Q000235:genetics*; D011237:Predictive Value of Tests; D015203:Reproducibility of Results; D018570:Risk Assessment / Q000592:standards; D012680:Sensitivity and Specificity; D014157:Transcription Factors / Q000235:genetics*
chemical_list: D019313:BRCA1 Protein; D024682:BRCA2 Protein; D009363:Neoplasm Proteins; D014157:Transcription Factors