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Comprehensive spectrum of BRCA1 and BRCA2 deleterious mutations in breast cancer in Asian countries
  1. Ava Kwong1,2,3,5,
  2. Vivian Y Shin1,
  3. John C W Ho1,4,
  4. Eunyoung Kang6,
  5. Seigo Nakamura7,
  6. Soo-Hwang Teo8,9,
  7. Ann S G Lee10,11,12,
  8. Jen-Hwei Sng13,
  9. Ophira M Ginsburg14,
  10. Allison W Kurian3,
  11. Jeffrey N Weitzel15,
  12. Man-Ting Siu1,
  13. Fian B F Law2,4,
  14. Tsun-Leung Chan2,4,
  15. Steven A Narod14,
  16. James M Ford3,
  17. Edmond S K Ma2,4,
  18. Sung-Won Kim6
  1. 1Department of Surgery, The University of Hong Kong, Hong Kong, Hong Kong
  2. 2Hong Kong Hereditary Breast Cancer Family Registry, Hong Kong, Hong Kong
  3. 3Departments of Medicine (Oncology) and Genetics, Stanford University School of Medicine, Stanford, California, USA
  4. 4Department of Molecular Pathology, Hong Kong Sanatorium & Hospital, Hong Kong, Hong Kong
  5. 5Department of Surgery, Hong Kong Sanatorium & Hospital, Hong Kong, Hong Kong
  6. 6Department of Surgery, Seoul National University Bundang Hospital, Seoul National University College of Medicine, Seongnam, Korea
  7. 7Department of Surgery, Division of Breast Surgical Oncology, Showa University School of Medicine, Tokyo, Japan
  8. 8Cancer Research Initiatives Foundation, Sime Darby Medical Centre, Subang Jaya, Selangor, Malaysia
  9. 9Faculty of Medicine, University Malaya Cancer Research Institute, University Malaya, Subang Jaya, Malaysia
  10. 10Division of Medical Sciences, National Cancer Centre, Singapore, Singapore
  11. 11Department of Physiology, Yong Loo Lin School of Medicine, National University of Singapore, Singapore, Singapore
  12. 12Office of Clinical & Academic Faculty Affairs, Duke-NUS Graduate Medical School, Singapore, Singapore
  13. 13Department of Surgery, Yong Loo Lin School of Medicine, National University of Singapore, Singapore, Singapore
  14. 14Women's College Research Institute, University of Toronto, Toronto, Ontario, Canada
  15. 15Division of Clinical Cancer Genetics, City of Hope National Medical Center, Duarte, California, USA
  1. Correspondence to Dr Ava Kwong, Breast Surgery Division, The University of Hong Kong, Queen Mary Hospital, Pokfulam Road, Hong Kong; akwong{at}


Approximately 5%–10% of breast cancers are due to genetic predisposition caused by germline mutations; the most commonly tested genes are BRCA1 and BRCA2 mutations. Some mutations are unique to one family and others are recurrent; the spectrum of BRCA1/BRCA2 mutations varies depending on the geographical origins, populations or ethnic groups. In this review, we compiled data from 11 participating Asian countries (Bangladesh, Mainland China, Hong Kong SAR, Indonesia, Japan, Korea, Malaysia, Philippines, Singapore, Thailand and Vietnam), and from ethnic Asians residing in Canada and the USA. We have additionally conducted a literature review to include other Asian countries mainly in Central and Western Asia. We present the current pathogenic mutation spectrum of BRCA1/BRCA2 genes in patients with breast cancer in various Asian populations. Understanding BRCA1/BRCA2 mutations in Asians will help provide better risk assessment and clinical management of breast cancer.

  • Cancer: breast
  • BRCA1
  • BRCA2
  • Asians
  • Germline mutations

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