Commercialized multigene predictors of clinical outcome for breast cancer

Oncologist. 2008 May;13(5):477-93. doi: 10.1634/theoncologist.2007-0248.

Abstract

In the past 5 years, a number of commercialized multigene prognostic and predictive tests have entered the complex and expanding landscape of breast cancer companion diagnostics. These tests have used a variety of formats ranging from the familiar slide-based assays of immunohistochemistry and fluorescence in situ hybridization to the nonmorphology-driven molecular platforms of quantitative multiplex real-time polymerase chain reaction and genomic microarray profiling. In this review, 14 multigene assays are evaluated as to their scientific validation, current clinical utility, regulatory approval status, and estimated cost-benefit ratio. Emphasis is placed on two tests: oncotype DX and MammaPrint. Current evidence indicates that the oncotype DX test has the advantages of earlier commercial launch, wide acceptance for payment by third-party payors in the U.S., ease of use of formalin-fixed paraffin-embedded tissues, recent listing by the American Society of Clinical Oncology Breast Cancer Tumor Markers Update Committee as recommended for use, continuous scoring system algorithm, ability to serve as both a prognostic test and predictive test for certain hormonal and chemotherapeutic agents, demonstrated cost-effectiveness in one published study, and a high accrual rate for the prospective validation clinical trial (Trial Assigning Individualized Options for Treatment). The MammaPrint assay has the advantages of a 510(k) clearance by the U.S. Food and Drug Administration, a larger gene number, which may enhance further utility, and a potentially wider patient eligibility, including lymph node-positive, estrogen receptor (ER)-negative, and younger patients being accrued into the prospective trial (Microarray in Node-Negative Disease May Avoid Chemotherapy). A number of other assays have specific predictive goals that are most often focused on the efficacy of tamoxifen in ER-positive patients, such as the two-gene ratio test and the cytochrome P450 CYP2D6 genotyping assay.

Publication types

  • Comparative Study
  • Review

MeSH terms

  • Biomarkers, Tumor / analysis
  • Breast Neoplasms / classification
  • Breast Neoplasms / diagnosis*
  • Breast Neoplasms / economics
  • Breast Neoplasms / genetics*
  • Cost-Benefit Analysis
  • Device Approval
  • Female
  • Gene Expression Profiling / methods*
  • Humans
  • Molecular Diagnostic Techniques / standards
  • Paraffin Embedding
  • Predictive Value of Tests
  • Prognosis
  • Receptors, Estrogen / analysis
  • Receptors, Estrogen / genetics*
  • Reverse Transcriptase Polymerase Chain Reaction
  • United States
  • United States Food and Drug Administration

Substances

  • Biomarkers, Tumor
  • Receptors, Estrogen