Screening for founder and recurrent BRCA mutations in Hong Kong and US Chinese populations
A Kwong, VY Shin, ESK Ma, CTL Chan, JM Ford, AW Kurian, E Tai
Department of Surgery, The University of Hong Kong
1. A total of 637 blood samples (441 breast, 155 ovarian, and 41 prostate cancers) were obtained in a local Chinese population.
2. The overall prevalence of BRCA mutation was 8.05% and the pickup rate of the recurrent panel was 3.52%. Nearly half of the mutations were covered by this panel.
3. We identified three BRCA mutations that were seen only in patients with ovarian cancer.
4. Of 79 Chinese breast cancer samples collected from overseas, two recurrent mutations were identified.
5. We compared 84 known mutation cases from overseas (comprising 62 different types of mutations) with our recurrent spectrum. Of which, 15 have been identified in Hong Kong and seven of them were covered in the recurrent panel.