Breast Cancer Research and Treatment

, Volume 112, Issue 3, pp 569–573

The CHEK2 1100delC mutation is not present in Korean patients with breast cancer cases tested for BRCA1 and BRCA2 mutation

  • Doo Ho Choi
  • Dae Yeon Cho
  • Min Hyuk Lee
  • Hee Sook Park
  • Sei Hyun Ahn
  • Byung Ho Son
  • Bruce G. Haffty
Epidemiology

DOI: 10.1007/s10549-007-9878-z

Cite this article as:
Choi, D.H., Cho, D.Y., Lee, M.H. et al. Breast Cancer Res Treat (2008) 112: 569. doi:10.1007/s10549-007-9878-z

Abstract

The germline CHEK2 1100delC mutation is a low penetrance breast cancer susceptibility allele, frequently observed in patient with family history of breast cancer and/or young age and the frequency varied according to race or ethnicity. In this study, we evaluated the significance of CHEK2 1100delC in predisposition to breast cancer by assessing its frequency in a material of 493 Korean breast cancer patients who had been screened for BRCA1 and BRCA2 mutations (42 patients had deleterious mutation of BRCA1/2). Mutation detection of CHEK2 1100delC was based upon analysis of primer extension products generated for previously amplified genomic DNA using a chip based MALDI-TOP mass spectrometry platform. After overall measurement automatically, assays which had bad peaks were checked again manually. None of the 493 Korean patients with breast cancer who were candidate for BRCA1 and BRCA2 test carried the 1100delC mutation observed in Caucasians with limited frequency. In the previous studies, we observed higher or comparable prevalence of BRCA1 and BRCA2 mutations in Korean patients with breast cancer compared to Caucasian breast cancer population. In the present study, we evaluated the role of a CHEK2 1100delC as a susceptibility mutation of breast cancer in the Korean population. However, our results suggest that this mutation is absent or may be very infrequent in Korean patients with breast cancer who have high risk of BRCA1 and BRCA2 mutation, making its screening irrelevant from the practical point view.

Keywords

BRCA1 BRCA2 Breast cancer CHEK2 1100delC Korean Mutation 

Copyright information

© Springer Science+Business Media, LLC. 2008

Authors and Affiliations

  • Doo Ho Choi
    • 1
  • Dae Yeon Cho
    • 2
  • Min Hyuk Lee
    • 3
  • Hee Sook Park
    • 4
  • Sei Hyun Ahn
    • 5
  • Byung Ho Son
    • 5
  • Bruce G. Haffty
    • 6
  1. 1.Department of Radiation Oncology, Samsung Medical CenterSungkyunkwan University School of MedicineSeoulSouth Korea
  2. 2.LabGenomics Clinical Research Institute, LabGenomicsSeoulSouth Korea
  3. 3.Department of SurgerySoonchunhyang University College of MedicineSeoulSouth Korea
  4. 4.Department of Internal MedicineSoonchunhyang University College of MedicineSeoulSouth Korea
  5. 5.Department of Surgery, College of MedicineUniversity of Ulsan and Asan Medical CenterSeoulSouth Korea
  6. 6.Department of Radiation OncologyRobert Wood Johnson Medical School, Cancer Institute of New JerseyNew BrunswickUSA

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