Prognostic Significance of CHEK2 Mutation in Progression of Breast Cancer

Lab Med. 2019 Jul 16;50(3):e36-e41. doi: 10.1093/labmed/lmz009.

Abstract

Breast cancer (BC) is one of the most common cancers among women; genetic mutations reflect the development of this disease. Mutations in cell signaling factors can be the main cause of BC development. In this study, we focused on mutations in checkpoint kinase 2 (CHEK2) and their impact as a prognostic factor in the pathogenesis of BC. CHEK2 is controlled in cell signaling pathways through the influence of upstream genes. Also, several downstream genes are regulated by CHEK2. In addition, mutations in CHEK2 lead to resistance of BC cells to chemotherapy and metastasis of cancer cells to other parts of the body. Finally, detection of mutations in CHEK2 can be used as a prognostic factor for patient response to treatment and for targeting downstream molecules of CHEK2 that are involved in the proliferation of breast tumor cells. Mutations such as c.1100delC and I157T can distinguish which patients are susceptible to metastasis.

Keywords: CHEK2; breast cancer; mutation, cell signaling, cell cycle, progression.

Publication types

  • Review

MeSH terms

  • Breast Neoplasms / diagnosis*
  • Breast Neoplasms / genetics*
  • Checkpoint Kinase 2 / genetics*
  • Disease Progression
  • Drug Resistance, Neoplasm
  • Female
  • Genetic Predisposition to Disease*
  • Genotype*
  • Humans
  • Mutation*
  • Neoplasm Metastasis
  • Prognosis

Substances

  • Checkpoint Kinase 2
  • CHEK2 protein, human