Whole genome sequencing of breast cancer

APMIS. 2019 May;127(5):303-315. doi: 10.1111/apm.12920. Epub 2019 Jan 28.

Abstract

Breast cancer was the first to take advantage of targeted therapy using endocrine therapy, and for up to 20% of all breast cancer patients a further significant improvement has been obtained by HER2-targeted therapy. Greater insight in precision medicine is to some extent driven by technical and computational progress, with the first wave of a true technical advancement being the application of transcriptomic analysis. Molecular subtyping further improved our understanding of breast cancer biology and has through a new tumor classification enabled allocation of personalized treatment regimens. The next wave in technical progression must be next-generation-sequencing which is currently providing new and exciting results. Large-scale sequencing data unravel novel somatic and potential targetable mutations as well as allowing the identification of new candidate genes predisposing for familial breast cancer. So far, around 15% of all breast cancer patients are genetically predisposed with most genes being factors in pathways implicated in genome maintenance. This review focuses on whole-genome sequencing and the new possibilities that this technique, together with other high-throughput analytic approaches, provides for a more individualized treatment course of breast cancer patients.

Keywords: Breast cancer; genome maintenance; whole genome sequencing.

Publication types

  • Review

MeSH terms

  • Breast Neoplasms / genetics*
  • DNA Mismatch Repair
  • Female
  • Genes, BRCA1
  • Genes, BRCA2
  • High-Throughput Nucleotide Sequencing
  • Humans
  • Precision Medicine
  • Whole Genome Sequencing / methods*