pISSN 1738-6756   eISSN 2092-9900
Open Access, Peer-reviewed
    J Breast Cancer. 2009 Jun;12(2):92-99. Korean.
    Published online Jun 30, 2009.
    https://doi.org/10.4048/jbc.2009.12.2.92
    Copyright © 2009 Korean Breast Cancer Society
    Original Article

    The Breast and Ovarian Cancer Risks in Korea Due to Inherited Mutations in BRCA1 and BRCA2: A Preliminary Report

    Sang Ah Han, Sue K. Park,1 Sei-Hyun Ahn,2 Byung Ho Son,2 Min Hyuk Lee,3 Doo Ho Choi,4 Dong-Young Noh,5 Wonshik Han,5 Eun Sook Lee,6 Seo Kyung Han,7 Lee Su Kim,8 Yongsik Jung,9 Ku Sang Kim,9 Young Jin Suh,10 Byung-In Moon,11 Seok-Jin Nam,12 Woo-Chul Noh,13 Jeong Eon Lee, ,12 Sung-Won Kim, and Korean Breast Cancer Society
      • Department of Surgery, Seoul National University Bundang Hospital, Seongnam, Korea.
      • 1Department of Preventive Medicine, Seoul National University College of Medicine, Seoul, Korea.
      • 2Department of Surgery, College of Medicine, University of Ulsan and Asan Medical Center, Seoul, Korea.
      • 3Department of Surgery, Soonchunhyang University Hospital, Seoul, Korea.
      • 4Department of Radiation Oncology, Sungkyunkwan University School of Medicine, Seoul, Korea.
      • 5Department of Surgery, Seoul National University College of Medicine, Seoul, Korea.
      • 6Department of Surgery, Korea University College of Medicine, Seoul, Korea.
      • 7Medical Research Collaboration Center, Seoul National University College of Medicine, Seoul, Korea.
      • 8Department of Surgery, Hallym University Sacred Heart Hospital, Anyang, Korea.
      • 9Department of Surgery, Ajou University School of Medicine, Suwon, Korea.
      • 10Department of Surgery, St Vincent's Hospital, the Catholic University of Korea, Suwon, Korea.
      • 11Department of Surgery, Ewha Womans' University Mokdong Hospital, School of Medicine, Seoul, Korea.
      • 12Department of Surgery, Sungkyunkwan University School of Medicine, Seoul, Korea.
      • 13Department of Surgery, Korea Institute of Radiology and Medical Science, Seoul, Korea.
      • 14Korean Breast Cancer Society, Seoul, Korea.
    Received February 27, 2009; Accepted April 17, 2009.

    Abstract

    Purpose

    To estimate the cumulative risk till each age (penetrance) of breast and ovarian cancers among female family members with BRCA1 and BRCA2 mutation.

    Methods

    Among the 61 BRCA1 mutation carriers in the 42 families and 47 BRCA2 mutation carriers in 31 families identified at 5 academic breast clinics, the probands were excluded to estimate the cumulative risk till each age of breast cancer in the Korean BRCA1 and BRCA2 carriers. Using Kaplan-Meier analyses, cumulative cancer risk estimates were determined.

    Results

    By the age 70, the female breast cancer risk for the BRCA1 and BRCA2 mutation carriers was 72.1% (95% confidence interval [CI]=59.5% to 84.8%) and 66.3% (95% CI=41.2% to 91.5%), respectively, and the ovarian cancer risk was 24.6% (95% CI=0% to 50.3%) and 11.1% (95% CI=0% to 31.6%), respectively. The contralateral breast cancer risk at 5 years after primary breast cancer was estimated as 16.2% (95% CI=9.3% to 23.1%) for the 52 breast cancer patients with the BRCA1 mutation and 17.3% (95% CI=9.7% to 24.0%) for the 35 breast cancer patients with the BRCA2 mutation.

    Conclusion

    The penetrance of BRCA mutations in Korea is largely consistent with the previous studies on Western populations. However, the small number of the cases, the high proportions of probands in the study subjects, the short term follow-up, and large confidence intervals are the limitations of the current study. The Korean Hereditary Breast Cancer Study (KOHBRA Study) may definitely answer this question.

    Keywords
    Breast neoplasms; Ovarian neoplasms; Penetrance of BRCA mutation; Risk

    Figures

    Figure 1
    Cumulative risk of breast and ovary cancer till each age among family members with BRCA1 mutation carriers.

    Figure 2
    Cumulative risk of breast and ovary cancer till each age among family members with BRCA2 mutation carriers.

    Tables

    Table 1
    Institutional distributions of families and carriers

    Table 2
    Cancer prevalence in female probands by BRCA1/2 mutation and female BRCA1/2 mutation carriers excluding proband

    Table 3
    Cumulative risk till each age of breast cancer among family members with BRCA1/2 mutation carriers

    Table 4
    Cumulative risk till each age of ovarian cancer among family members with BRCA1/2 mutation carriers

    Table 5
    Cumulative risk of contralateral breast cancer among female breast cancer patient with BRCA1/2 mutation

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    MeSH Terms
    Breast
    Breast Neoplasms
    Female
    Follow-Up Studies
    Humans
    Korea
    Ovarian Neoplasms
    Penetrance
    Metrics
    Share
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