Research Papers:

Rapid detection of BRCA1/2 recurrent mutations in Chinese breast and ovarian cancer patients with multiplex SNaPshot genotyping panels

Ava Kwong _, John C.W. Ho, Vivian Y. Shin, Allison W. Kurian, Edmund Tai, Laura J. Esserman, Jeffery N. Weitzel, Po-Han Lin, Michael Field, Susan M. Domchek, Jessica Lo, Hextan Y.S. Ngan, Edmond S.K. Ma, Tsun L. Chan and James M. Ford

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Oncotarget. 2018; 9:7832-7843. https://doi.org/10.18632/oncotarget.23471

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Ava Kwong1,2,3, John C.W. Ho1, Vivian Y. Shin1, Allison W. Kurian4, Edmund Tai5, Laura J. Esserman6, Jeffery N. Weitzel7, Po-Han Lin8, Michael Field9, Susan M. Domchek10, Jessica Lo1, Hextan Y.S. Ngan11, Edmond S.K. Ma12, Tsun L. Chan12 and James M. Ford4

1Department of Surgery, The University of Hong Kong, Hong Kong, China

2Hong Kong Hereditary Breast Cancer Family Registry, Hong Kong, China

3Department of Surgery, Hong Kong Sanatorium & Hospital, Hong Kong, China

4Department of Medicine, Health Research & Policy and Genetics, Stanford University School of Medicine, Stanford, CA, United States

5Palo Alto Medical Foundation, Palo Alto, CA, United States

6Helen Diller Family Comprehensive Cancer Center, University of California, San Francisco, CA, United States

7Division of Clinical Cancer Genomics, City of Hope, Duarte, CA, United States

8Department of Medical Genetics, National Taiwan University Hospital, Taipei, Taiwan

9Department of Clinical Genetics, Royal North Shore Hospital, St Leonards, NSW, Australia

10Perelman School of Medicine at the University of Pennsylvania, Philadelphia, PA, United States

11Department of Obstetrics and Gynaecology, The University of Hong Kong, Hong Kong, China

12Department of Molecular Pathology, Hong Kong Sanatorium & Hospital, Hong Kong, China

Correspondence to:

Ava Kwong, email: [email protected]

Keywords: breast cancer; ovarian cancer; BRCA1/2; mutation; genetic testing

Received: April 11, 2017     Accepted: September 20, 2017     Published: December 20, 2017


BRCA1/2 mutations are significant risk factors for hereditary breast and ovarian cancer (HBOC), its mutation frequency in HBOC of Chinese ethnicity is around 9%, in which nearly half are recurrent mutations. In Hong Kong and China, genetic testing and counseling are not as common as in the West. To reduce the barrier of testing, a multiplex SNaPshot genotyping panel that targeted 25 Chinese BRCA1/2 mutation hotspots was developed, and its feasibility was evaluated in a local cohort of 441 breast and 155 ovarian cancer patients. For those who tested negative, they were then subjected to full-gene testing with next-generation sequencing (NGS). BRCA mutation prevalence in this cohort was 8.05% and the yield of the recurrent panel was 3.52%, identifying over 40% of the mutation carriers. Moreover, from 79 Chinese breast cancer cases recruited overseas, 2 recurrent mutations and one novel BRCA2 mutation were detected by the panel and NGS respectively. The developed genotyping panel showed to be an easy-to-perform and more affordable testing tool that can provide important contributions to improve the healthcare of Chinese women with cancer as well as family members that harbor high risk mutations for HBOC.

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