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Breast cancer risk for Korean women with germline mutations in BRCA1 and BRCA2

Breast Cancer Research and Treatment volume 152, pages 659–665 (2015)Cite this article

Abstract

The average age-specific cumulative risk (penetrance) of breast cancer has been studied for BRCA1 and BRCA2 mutation carriers living in Western countries, but not for those living in East Asian countries where the population breast cancer incidence is lower. From 2007 to 2011, the Korean Hereditary Breast Cancer study identified 151 BRCA1 and 225 BRCA2 mutation-carrying families from family cancer clinics. We estimated the hazard ratio (HR) for female carriers relative to the population, and hence the penetrance, using a modified segregation analysis of cancer family histories conditioned on ascertainment. The breast cancer HR estimates [95 % confidence interval (CI)] for BRCA1 and BRCA2 mutation carriers were 18 (3–103) and 11 (5–27), respectively. The breast cancer penetrance estimates (95 % CI) to age 70 years were 49 % (11–98) and 35 % (16–65) for BRCA1 and BRCA2 mutation carriers, respectively. The breast cancer HR and penetrance estimates were similar for Korean and Western women (all P > 0.4). The point estimates of breast cancer penetrance were similar to age 50 years, though less for Korean carriers at older ages. Breast cancer risk for Korean and Western mutation carriers might reflect underlying population risks which in turn likely reflect differences in environmental and lifestyle factors. This raises the possibility of identifying modifiers of cancer risk for carriers with implications for prevention.

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Acknowledgments

This study was supported by a Grant from the National R&D Program for Cancer Control, Ministry of Health and Welfare, Republic of Korea (#1020350 and #1420190).

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Affiliations

  1. Graduate School of Cancer Science and Policy, National Cancer Center, Goyang, Gyeonggi-do, Korea

    Boyoung Park

  2. National Cancer Control Institute, National Cancer Center, Goyang, Gyeonggi-do, Korea

    Boyoung Park

  3. Centre for Epidemiology and Biostatistics, Melbourne School of Population and Global Health, The University of Melbourne, Parkville, VIC, Australia

    James G. Dowty, Aung K. Win & John L. Hopper

  4. Department of Preventive Medicine, Seoul National University College of Medicine, Seoul, Korea

    Choonghyun Ahn & Sue K. Park

  5. Cancer Research Institute, Seoul National University, Seoul, Korea

    Choonghyun Ahn & Sue K. Park

  6. Department of Biomedical Science, Seoul National University Graduate School, 103 Daehakro, Chongno-gu, Seoul, 110-799, Korea

    Choonghyun Ahn & Sue K. Park

  7. Department of Surgery, Daerim-Sungmo Hospital, Seoul, Korea

    Sung-Won Kim

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

    Min Hyuk Lee

  9. Department of Surgery, College of Medicine, University of Ulsan and Asan Medical Center, Seoul, Korea

    Jong Won Lee

  10. Department of Surgery, Breast and Endocrine Service, Seoul National University Bundang Hospital, Gyeonggi-do, Korea

    Eunyoung Kang

  11. Department of Epidemiology, School of Public Health, Seoul National University, Seoul, Korea

    John L. Hopper

  12. Institute of Health and Environment, Seoul National University, Seoul, Korea

    John L. Hopper

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  1. Boyoung Park
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  2. James G. Dowty
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  7. Jong Won Lee
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  8. Eunyoung Kang
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  9. John L. Hopper
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Correspondence to John L. Hopper or Sue K. Park.

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Park, B., Dowty, J.G., Ahn, C. et al. Breast cancer risk for Korean women with germline mutations in BRCA1 and BRCA2 . Breast Cancer Res Treat 152, 659–665 (2015). https://doi.org/10.1007/s10549-015-3495-z

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  • DOI: https://doi.org/10.1007/s10549-015-3495-z

Keywords

  • Average cumulative risk
  • BRCA1/2 mutation carrier
  • Breast cancer risk
  • Penetrance