The prevalence and spectrum of BRCA1 and BRCA2 mutations in Korean population: recent update of the Korean Hereditary Breast Cancer (KOHBRA) study

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• 作者：Eunyoung Kang ; Moon-Woo Seong ; Sue K. Park…
• 关键词：BRCA1 genes ; BRCA2 genes ; Breast neoplasms ; Genetic predisposition ; Prevalence
• 刊名：Breast Cancer Research and Treatment
• 出版年：2015
• 出版时间：May 2015
• 年：2015
• 卷：151
• 期：1
• 页码：157-168
• 全文大小：418 KB
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  4.Wooster R, Bignell G, Lancaster J, Swift S, Seal S, Mangion J, Collins N, Gregory S, Gumbs C, Micklem G (1995) Identification of the breast cancer susceptibility gene BRCA2. Nature 378(6559):789-92View Article PubMed
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  21.Breast cancer incidence statistic
• 作者单位：Eunyoung Kang (1)
  Moon-Woo Seong (2)
  Sue K. Park (3) (4) (5)
  Jong Won Lee (6)
  Jihyoun Lee (7)
  Lee Su Kim (8)
  Jeong Eon Lee (9)
  Sung Yong Kim (10)
  Joon Jeong (11)
  Sang Ah Han (12)
  Sung-Won Kim (1)
  Korean Hereditary Breast Cancer Study Group
  
  1. Department of Surgery, Seoul National University Bundang Hospital, Seoul National University College of Medicine, 82, Gumi-ro 173 Beon-gil, Bundang-gu, Seongnam-si, Gyeonggi-do, 463-707, Korea
  2. Department of Laboratory Medicine, Seoul National University Hospital, Seoul, Korea
  3. Department of Preventive Medicine, Seoul National University College of Medicine, Seoul, Korea
  4. Cancer Research Institute, Seoul National University, Seoul, Korea
  5. Department of Biomedical Science, Seoul National University College of Medicine, Seoul, Korea
  6. Department of Surgery, Asan Medical Center, University of Ulsan College of Medicine, Seoul, Korea
  7. Department of Surgery, Soonchunhynag University Seoul Hospital, Seoul, Korea
  8. Department of Surgery, Hallym University Sacred Heart Hospital, Anyang, Korea
  9. Department of Surgery, Samsung Medical Center, Sungkyunkwan University, Seoul, Korea
  10. Department of Surgery, Soonchunhynag University Hospital, Cheonan, Korea
  11. Department of Surgery, Yonsei University College of Medicine, Seoul, Korea
  12. Department of Surgery, KyungHee University Hospital, Seoul, Korea
  
• 刊物类别：Medicine
• 刊物主题：Medicine & Public Health
  Oncology
  
• 出版者：Springer Netherlands
• ISSN：1573-7217

文摘

The Korean Hereditary Breast Cancer (KOHBRA) study was established to evaluate the prevalence and spectrum of BRCA1/2 mutations in Korean breast cancer patients at risk for hereditary breast and ovarian cancer. A total of 2953 subjects (2403 index patients and 550 family members of affected carriers) from 36 centers participated in this study between May 2007 and December 2013. All participants received genetic counseling and BRCA genetic testing. In total, 378 mutation carriers among 2403 index patients were identified. The prevalence of BRCA mutations in specific subgroups was as follows: 22.3?% (274/1228) for breast cancer patients with a family history of breast/ovarian cancers, 8.8?% (39/441) for patients with early-onset (<35?years) breast cancer without a family history, 16.3?% (34/209) for patients with bilateral breast cancer, 4.8?% (1/21) for male patients with breast cancer, and 37.5?% (3/8) for patients with both breast and ovarian cancer. From an analysis of the mutation spectrum, 63 BRCA1 and 90 BRCA2 different mutations, including 44 novel mutations, were identified. The c.7480 (p.Arg2494Ter) mutation in BRCA2 (10.1?%) was the most commonly identified in this cohort. The KOHBRA study is the largest cohort to identify BRCA mutation carriers in Asia. The results suggest that the prevalence of BRCA mutations in familial breast cancer patients is similar to that among Western cohorts. However, some single risk factors without family histories (early-onset breast cancer, male breast cancer, or multiple organ cancers) may limit the utility of BRCA gene testing in the Korean population.