Recent advances in breast cancer research impacting clinical diagnostic practice

J Pathol. 2019 Apr;247(5):552-562. doi: 10.1002/path.5199. Epub 2019 Jan 16.

Abstract

During the last decade, the genomics revolution has driven critical advances in molecular oncology and pathology, and a deeper appreciation of heterogeneity that is beginning to reshape our thinking around diagnostic classification. Recent developments have seen existing classification systems modified and improved where possible, gene-based diagnostics implemented and tumour-immune interactions modulated. We present a detailed discussion of this progress, including advances in the understanding of breast tumour classification, e.g. mixed ductal-lobular tumours and the spectrum of triple-negative breast cancer. The latest information on clinical trials and the implementation of gene-based diagnostics, including MammaPrint and Oncotype Dx and others, is synthesised, and emerging targeted therapies, as well as the burgeoning immuno-oncology field, and their relevance in breast cancer, are discussed. Copyright © 2018 Pathological Society of Great Britain and Ireland. Published by John Wiley & Sons, Ltd.

Keywords: Breast Cancer Index; EndoPredict (EPclin); MammaPrint; MapQuantDx; OncotypeDX; PD-1; PD-L1; Prosigna; breast cancer; genomic signatures; pathology; prognostic signatures; triple negative; tumour-infiltrating lymphocytes.

Publication types

  • Research Support, Non-U.S. Gov't
  • Review

MeSH terms

  • Breast Neoplasms / genetics
  • Breast Neoplasms / pathology*
  • Breast Neoplasms / therapy
  • Female
  • Genes, BRCA1 / physiology
  • Genes, BRCA2 / physiology
  • Genes, Neoplasm / genetics
  • Genomics
  • Humans
  • Lymphocytes, Tumor-Infiltrating / physiology
  • Molecular Targeted Therapy / methods
  • Prognosis