Functional assays for BRCA1 and BRCA2

Marcelo A. Carvalho, Fergus J. Couch, Alvaro N.A. Monteiro

Research output: Contribution to journalReview articlepeer-review

43 Scopus citations


Genetic testing for the two major breast cancer susceptibility genes has now been available for several years with more than 70,000 people tested in the USA alone. While the current genetic testing identifies many sequence alterations there are problems with both sensitivity and specificity of the assay. In particular, the genetic testing is limited in its ability to determine which of the many missense mutations identified in BRCA1 and BRCA2 actually predispose to cancer and which are simply neutral alterations. Here we will focus on the limitations in test result interpretation and we will explore how biochemistry and cell biology can help to clarify these issues. Although we limit our discussion to genetic testing of BRCA1 and BRCA2, the problem is common to an expanding group of genes, including ATM and MSH2, in which germ-line missense mutations may also confer increased risk of cancer. Here we advocate the use of functional assays to complement genetic data in the analysis of unclassified missense mutations and propose a set of standards to conduct and interpret these assays.

Original languageEnglish (US)
Pages (from-to)298-310
Number of pages13
JournalInternational Journal of Biochemistry and Cell Biology
Issue number2
StatePublished - 2007


  • BRCA1
  • BRCA2
  • Cancer risk
  • Functional assays
  • Unclassified variants

ASJC Scopus subject areas

  • Biochemistry
  • Cell Biology


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