Molecular Pathology of Breast Tumors: Diagnostic and Actionable Genetic Alterations

Clin Lab Med. 2024 Jun;44(2):255-275. doi: 10.1016/j.cll.2023.08.001.

Abstract

Breast cancer is a heterogenous disease with various histologic subtypes, molecular profiles, behaviors, and response to therapy. After the histologic assessment and diagnosis of an invasive breast carcinoma, the use of biomarkers, multigene expression assays and mutation profiling may be used. With improved molecular assays, the identification of somatic genetic alterations in key oncogenes and tumor suppressor genes are playing an increasingly important role in many areas of breast cancer care. This review summarizes the most clinically significant somatic alterations in breast tumors and how this information is used to facilitate diagnosis, provide potential treatment options, and identify mechanisms of resistance.

Keywords: Biomarkers; Breast cancer; Estrogen receptor; HER2; Mechanisms of resistance; Mutation profiling; Resistance.

Publication types

  • Review

MeSH terms

  • Biomarkers, Tumor / genetics
  • Breast / pathology
  • Breast Neoplasms* / diagnosis
  • Breast Neoplasms* / genetics
  • Breast Neoplasms* / pathology
  • Female
  • Humans
  • Mutation

Substances

  • Biomarkers, Tumor