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The prevalence of BRCA mutations among familial breast cancer patients in Korea: results of the Korean Hereditary Breast Cancer study

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Abstract

The primary aim of this study was to estimate the prevalence of BRCA1/2 mutations among familial breast cancer (BC) patients in Korea. We analyzed 775 familial BC patients who were enrolled in the Korean Hereditary Breast Cancer (KOHBRA) study and treated at 36 institutions between May 2007 and May 2010. Patients with familial BC were defined as BC patients with family histories of BC or ovarian cancer (OC) in any relatives. All probands received genetic counseling and BRCA genetic testing was performed after obtaining informed consent. The mean age of BC diagnosis was 43.6 years. The numbers of probands with family histories of BC only and OC only were 682 and 93, respectively. The overall prevalence of the BRCA mutation among familial BC patients was 21.7 % (BRCA1 9.3 % and BRCA2 12.4 %). Subgroup analyses observed prevalences of the BRCA mutation as follows: 19.6 % among patients with BC family history only (BRCA1 7.6 % and BRCA2 12.0 %) and 36.6 % among patients with OC family history only (BRCA1 21.5 % and BRCA2 15.1 %). Most of the subgroups satisfied the 10 % probability criteria to undergo BRCA testing. However, the prevalence of the BRCA mutations among subgroups that had 2 BC patients in a family with both age at diagnosis of more than 50 years old did not reach the 10 % criteria (4.1 %). Korean familial BC patients are good candidates for BRCA testing even when they have family histories of single breast cancers. However, proband age at diagnosis should be carefully considered when selecting patients for testing.

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Acknowledgments

This study was supported by a grant from the National R&D Program for Cancer Control, Ministry for Health, Welfare and Family affairs, Republic of Korea (#0720450). We thank all participants and investigators of the KOHBRA study: Beom Seok Kwak, Byeong-Woo Park, Byung Ho Son, Byung-In Moon, Cha Kyong Yom, Chan Heun Park, Chan Seok Yoon, Chang Hyun Lee, Dae Sung Yoon, Dong-Young Noh, Doo Ho Choi, Eundeok Chang, Eun-Kyu Kim, Eunyoung Kang, Hae Kyung Lee, Hai-Lin Park, Hyde Lee, Hyeong-Gon Moon, Hyun-Ah Kim, Il-Kyun Lee, Jeong Eon Lee, Jong Won Lee, Jong-Han Yu, Joon Jeong, Jung-Hyun Yang, Keumhee Kwak, Ki-Tae Hwang, Ku Sang Kim, Lee Su Kim, Min Hee Hur, Min Hyuk Lee, Myung Chul Chang, Nam Sun Paik, Sang Ah Han, Sang Seol Jung, Sang Uk Woo, Se Jeong Oh, Sehwan Han, Sei Joong Kim, Sei-Hyun Ahn, Seok-Jin Nam, Seung Sang Ko, Sung Hoo Jung, Sung Soo Kang, Sung Yong Kim, Sung-Won Kim, Tae Hyun Kim, Tae Woo Kang, Wonshik Han, Woo-Chul Noh, Yong Lai Park, Yongsik Jung, Young Jin Suh, Young Tae Bae, Young Up Cho, Young-Ik Hong, Sue K. Park, Yoon Joo Jung, Su Yun Choi, Young Bum Yoo, Soo-Jung Lee.

Conflict of interest

The authors declare that they have no conflict of interest.

Author information

Authors and Affiliations

  1. Department of Surgery, Kyung Hee University Hospital at Gangdong, Seoul, Korea

    Sang-Ah Han

  2. Department of Surgery, Breast and Endocrine Service, Seoul National University Bundang Hospital, 300 Gumidong, Bundang-gu, Seongnam-si, Gyeonggi-do, 463-707, Korea

    Sung-Won Kim, Eunyoung Kang & Cha Kyong Yom

  3. Department of Preventive Medicine and Biomedical Science, Cancer Research Institute, Seoul National University College of Medicine, Seoul, Korea

    Sue K. Park

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

    Sei-Hyun Ahn & Byung Ho Son

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

    Min Hyuk Lee & Sung Yong Kim

  6. Department of Surgery, Samsung Medical Center, Sungkyunkwan University, Seoul, Korea

    Seok-Jin Nam & Jeong Eon Lee

  7. Department of Surgery, Cancer Research Institute, Seoul National University College of Medicine, Seoul, Korea

    Wonshik Han & Dong-Young Noh

  8. Department of Surgery, Pusan National University Hospital, Pusan, Korea

    Young Tae Bae

  9. Department of Surgery, Korea Institute of Radiological and Medical Science, Korea Cancer Center Hospital, Seoul, Korea

    Hyun-Ah Kim & Woo-Chul Noh

  10. Department of Surgery, Inha University Hospital, Incheon, Korea

    Young Up Cho & Sei Joong Kim

  11. Department of Surgery, Dankook University Hospital, Cheonan, Korea

    Myung Chul Chang

  12. Department of Surgery, Ewha Womans’ University Hospital, Seoul, Korea

    Nam Sun Paik & Byung-In Moon

  13. Department of Surgery, Seoul National University Boramae Hospital, Seoul, Korea

    Ki-Tae Hwang

  14. Department of Radiation Oncology, Samsung Medical Center, Sungkyunkwan University, Seoul, Korea

    Doo Ho Choi

  15. Breast and Endocrine Surgery, Hallym University Sacred Heart Hospital, Anyang, Korea

    Lee Su Kim

  16. Department of Surgery, Ajou University School of Medicine, Suwon, Korea

    Ku Sang Kim & Yongsik Jung

  17. Department of Surgery, St. Vincent’s Hospital, The Catholic University of Korea School of Medicine, Suwon, Korea

    Young Jin Suh

  18. Department of Surgery, Konkuk University Medical Cencer, Seoul, Korea

    Jung-Hyun Yang

  19. Department of Surgery, Yonsei University College of Medicine, Seoul, Korea

    Hyde Lee

  20. Department of Surgery, Chonbuk National University Hospital, Jeonju, Korea

    Sung Hoo Jung

Authors
  1. Sang-Ah Han
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  2. Sung-Won Kim
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  3. Eunyoung Kang
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  4. Sue K. Park
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  5. Sei-Hyun Ahn
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  6. Min Hyuk Lee
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  7. Seok-Jin Nam
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  8. Wonshik Han
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  9. Young Tae Bae
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  10. Hyun-Ah Kim
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  11. Young Up Cho
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  12. Myung Chul Chang
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  13. Nam Sun Paik
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  14. Ki-Tae Hwang
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  15. Sei Joong Kim
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  16. Dong-Young Noh
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  17. Doo Ho Choi
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  18. Woo-Chul Noh
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  19. Lee Su Kim
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  20. Ku Sang Kim
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  21. Young Jin Suh
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  22. Jeong Eon Lee
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  23. Yongsik Jung
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  24. Byung-In Moon
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  25. Jung-Hyun Yang
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  26. Byung Ho Son
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  27. Cha Kyong Yom
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  28. Sung Yong Kim
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  29. Hyde Lee
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  30. Sung Hoo Jung
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Consortia

The KOHBRA Research Group and the Korean Breast Cancer Society

Corresponding author

Correspondence to Sung-Won Kim.

Additional information

This study is registered at clinicaltrials.gov (NCT00595348).

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Han, SA., Kim, SW., Kang, E. et al. The prevalence of BRCA mutations among familial breast cancer patients in Korea: results of the Korean Hereditary Breast Cancer study. Familial Cancer 12, 75–81 (2013). https://doi.org/10.1007/s10689-012-9578-7

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