multigene testing; expression profile

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Indications

Notes

  • panels are available that screen for mutations in up to 30-70 genes[1][2]; the problem becomes how to interpret the results
  • Guardant360 test
    • targets 70 genes
    • sensitivity & specificity of detecting advanced cancer from blood specimen is 78-86% compared with tumor biopsy, dependent upon tumor type; specificity is 98% if samples collected within 6 months of each other[2]
  • CancerSEEK[3]
    • targets 16 genes + 8 proteins
    • machine-based learning analyzes data

More general terms

More specific terms

References

  1. 1.0 1.1 Orciari Herman A, Fairchild DG, Di Francesco L Multigene Testing Opening a Can of Worms Physician's First Watch, Sept 24, 2014 David G. Fairchild, MD, MPH, Editor-in-Chief Massachusetts Medical Society http://www.jwatch.org
  2. 2.0 2.1 2.2 Zill OA et al Somatic genomic landscape of over 15,000 patients with advanced-stage cancer from clinical next-generation sequencing analysis of circulating tumor DNA. J Clin Oncol 34, 2016 (suppl; abstr LBA11501) http://abstracts.asco.org/176/AbstView_176_171265.html
  3. 3.0 3.1 Castellino AM CancerSEEK: Blood Test That Detects Eight Common Cancers Medscape - Jan 18, 2018. https://www.medscape.com/viewarticle/891491
    Cohen JD, Li L, Wang Y et al Detection and localization of surgically resectable cancers with a multi-analyte blood test. Science. Jan 18, 2018 <PubMed> PMID: https://www.ncbi.nlm.nih.gov/pubmed/29348365 <Internet> http://science.sciencemag.org/content/early/2018/01/17/science.aar3247
  4. 4.0 4.1 Medical Knowledge Self Assessment Program (MKSAP) 19. American College of Physicians, Philadelphia 2021