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Pan-cancer pharmacogenetics: targeted sequencing panels or exome sequencing?

Laurentijn TillemanBjörn HeindryckxDieter DeforceFilip Van Nieuwerburgh
Published in: Pharmacogenomics (2020)
Aim: This study provides clinicians and researchers with an informed choice between current commercially available targeted sequencing panels and exome sequencing panels in the context of pan-cancer pharmacogenetics. Materials & methods: Nine contemporary commercially available targeted pan-cancer panels and the xGen Exome Research Panel v2 were investigated to determine to what extent they cover the pharmacogenetic variant-drug interactions in five available cancer knowledgebases, and the driver mutations and fusion genes in the Cancer Genome Atlas. Results: xGen Exome Research Panel v2 and TrueSight Oncology 500 target 71.0 and 68.9% of the pharmacogenetic interactions in the available knowledgebases; and 93.7 and 86.0% of the driver mutations in the Cancer Genome Atlas, respectively. All other studied panels target lower percentages. Conclusion: Exome sequencing outperforms pan-cancer targeted sequencing panels in terms of covered cancer pharmacogenetic variant-drug interactions and pharmacogenetic cancer variants.
Keyphrases
  • papillary thyroid
  • squamous cell
  • single cell
  • copy number
  • lymph node metastasis
  • palliative care
  • dna methylation
  • drug delivery