Testing for CHEK2 in the cancer genetics clinic: ready for prime time?

Clin Genet. 2010 Jul;78(1):1-7. doi: 10.1111/j.1399-0004.2010.01402.x.


The 1100delC mutation of the CHEK2 gene was found to be a cause of breast cancer in 2002. The lifetime risk of breast cancer among women with a mutation and with a family history of breast cancer is approximately 25%. These women are good candidates for screening with MRI and for chemoprevention with tamoxifen. It is reasonable to test for this single mutation when women undergo testing for BRCA1 and BRCA2.

Publication types

  • Review

MeSH terms

  • Breast Neoplasms / diagnosis*
  • Breast Neoplasms / drug therapy
  • Breast Neoplasms / prevention & control*
  • Checkpoint Kinase 2
  • Chemoprevention / methods
  • Female
  • Genetic Testing / methods*
  • Humans
  • Magnetic Resonance Imaging
  • Mass Screening
  • Mutation
  • Protein-Serine-Threonine Kinases / genetics*
  • Tamoxifen / therapeutic use


  • Tamoxifen
  • Checkpoint Kinase 2
  • CHEK2 protein, human
  • Protein-Serine-Threonine Kinases