Frequency of the CHEK2 1100delC Mutation in Korean Women with Early Onset Breast Cancer

Doo Ho Choi; Dae Yeon Cho; Min Hyuk Lee; Hee Sook Park; Bruce G. Haffty

doi:10.4048/jbc.2008.11.1.25

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Choi, Cho, Lee, Park, and Haffty: Frequency of the CHEK2 1100delC Mutation in Korean Women with Early Onset Breast Cancer

Original Article

Journal of Breast Cancer

Journal of Breast Cancer 2008; 11(1): 25-29.

Published online: 31 March 2008

DOI: https://doi.org/10.4048/jbc.2008.11.1.25

Frequency of the CHEK2 1100delC Mutation in Korean Women with Early Onset Breast Cancer

Doo Ho Choi, Dae Yeon Cho¹, Min Hyuk Lee², Hee Sook Park, ³, Bruce G. Haffty⁴

Department of Radiation Oncology, Soonchunhyang University College of Medicine, Seoul, Korea.

¹LabGenomics Clinical Research Institute, LabGenomics, Seoul, Korea.

²Department of Surgery, Soonchunhyang University College of Medicine, Seoul, Korea.

³Department of Internal Medicine, Soonchunhyang University College of Medicine, Seoul, Korea.

⁴Department of Therapeutic Radiology, Yale University School of Medicine, New Haven CT, USA.

dohochoi@hanmail.net

Received 10 December 2007 Accepted 21 January 2008

Abstract

Purpose

Sequence variants in the cell cycle checkpoint kinase 2 (CHEK2 1100delC) are associated with an increased risk for breast cancer in women carrying this mutation. It is a low-penetrance breast cancer susceptibility allele, frequently observed in patients with a family history of breast cancer and/or young age, with the frequency varying 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 material from 101 Korean women patients with early-onset breast cancer.

Methods

One hundred and one Korean patients with early-onset breast cancer (40 yr old or younger) were selected for this study. All the patients had been screened for BRCA1 and BRCA2 mutations and 14 patients had deleterious mutations. Of the 101 patients entered for this study, 14 had family history of breast cancer and 7 had bilateral breast cancers. Mutation detection of CHEK2 1100delC was based on analysis of primer extension products generated from previously-amplified genomic DNA using a chip based MALDI-TOP mass spectrometry platform (Sequenom, Inc., San Diego, CA, USA).

Results

None of the 101 Korean patients with a family history of breast cancer and early-onset breast cancer who were candidates for the BRCA1 and BRCA2 test carried the 1100 delC mutation, which is observed in Caucasians with limited frequency.

Conclusion

We previously observed higher or comparable prevalence of BRCA1 and BRCA2 mutations in Korean patients with breast cancer compared to Caucasians. However, the CHEK2 1100delC mutation is absent or infrequent in Korean patients with breast cancer who have a high risk of BRCA1 and BRCA2 mutations, making its screening irrelevant.

Keywords: Breast cancer, CHEK2, Mutation

Figures and Tables

Fig 1

MALDI-TOP MS CHEK2 mutation analysis flow chart.

Fig 2

Example of MALDI-TOP CHEK2 mutation (wild type).

Table 1

Clinicopathologic characteristics of patients (n=101)

^*s9 patients had both deleterious mutations and variants of unknown significance.

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