The predictive value of BRCA1 and BRCA2 mutation testing

Genet Test. 2000;4(1):45-8. doi: 10.1089/109065700316462.

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.

Publication types

  • Research Support, Non-U.S. Gov't
  • Research Support, U.S. Gov't, Non-P.H.S.
  • Research Support, U.S. Gov't, P.H.S.

MeSH terms

  • BRCA1 Protein / genetics*
  • BRCA2 Protein
  • Breast Neoplasms / diagnosis
  • Breast Neoplasms / genetics*
  • DNA Mutational Analysis / standards*
  • Evaluation Studies as Topic
  • Female
  • Humans
  • Neoplasm Proteins / genetics*
  • Ovarian Neoplasms / diagnosis
  • Ovarian Neoplasms / genetics*
  • Predictive Value of Tests
  • Reproducibility of Results
  • Risk Assessment / standards
  • Sensitivity and Specificity
  • Transcription Factors / genetics*

Substances

  • BRCA1 Protein
  • BRCA2 Protein
  • Neoplasm Proteins
  • Transcription Factors