[CHEK2-associated hereditary breast cancer]

Vopr Onkol. 2016;62(6):753-757.
[Article in Russian]

Abstract

CHEK2 is classified as a moderate-penetrance gene for hereditary breast cancer (BC). In Russia, CHEK2 mutations hold second position in the list of BC-predisposing gene defects after BRCAl, and include CHEK2 1100deIC, de15395, and IVS2+lG>A gene-inactivating alleles. CHEK2-driven breast carcinomas are generally characterized by poor prognosis and low sensitivity to the conventional therapeutic regimens. CHEK2 testing needs to be incorporated into routine clinical practice owing its overt clinical significance.

Publication types

  • Review

MeSH terms

  • BRCA1 Protein / genetics
  • Breast Neoplasms / diagnosis
  • Breast Neoplasms / genetics*
  • Breast Neoplasms / mortality
  • Breast Neoplasms / therapy
  • Checkpoint Kinase 2 / genetics*
  • Female
  • Genetic Diseases, Inborn / diagnosis
  • Genetic Diseases, Inborn / genetics*
  • Genetic Diseases, Inborn / mortality
  • Genetic Diseases, Inborn / therapy
  • Humans
  • Mutation*
  • Penetrance*
  • Prognosis
  • Russia / epidemiology

Substances

  • BRCA1 Protein
  • BRCA1 protein, human
  • Checkpoint Kinase 2
  • CHEK2 protein, human