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The cost of genetic testing and the limited knowledge about the  BRCA1  and  BRCA2  genes in different ethnic groups has limited its availability in medium- and low-resource countries, including Malaysia. In addition, the applicability of many risk-assessment tools, such as the Manchester Scoring System and BOADICEA (Breast and Ovarian Analysis of Disease Incidence and Carrier Estimation Algorithm) which were developed based on mutation rates observed primarily in Caucasian populations using data from multiplex families, and in populations where the rate of breast cancer is higher, has not been widely tested in Asia or in Asians living elsewhere. Here, we report the results of genetic testing for mutations in the  BRCA1  or  BRCA2  genes in a series of families with breast cancer in the multi-ethnic population (Malay, Chinese and Indian) of Malaysia.    Method  A total of 187 breast cancer patients with either early-onset breast cancer (at age ≤ 40 years) or a personal and/or family history of breast or ovarian cancer were comprehensively tested by full sequencing of both  BRCA1  and  BRCA2 . Two algorithms to predict the presence of mutations, the Manchester Scoring System and BOADICEA, were evaluated.    Results  Twenty-seven deleterious mutations were detected (14 in  BRCA1  and 13 in  BRCA2 ), only one of which was found in two unrelated individuals ( BRCA2  490 delCT). In addition, 47 variants of uncertain clinical significance were identified (16 in  BRCA1  and 31 in  BRCA2 ). Notably, many mutations are novel (13 of the 30  BRCA1  mutations and 24 of the 44  BRCA2 ). We report that while there were an equal proportion of  BRCA1  and  BRCA2  mutations in the Chinese population in our study, there were significantly more  BRCA2  mutations among the Malays. In addition, we show that the predictive power of the BOADICEA risk-prediction model and the Manchester Scoring System was significantly better for  BRCA1  than  BRCA2 , but that the overall sensitivity, specificity and positive-predictive value was lower in this population than has been previously reported in Caucasian populations.    Conclusion  Our study underscores the need for larger collaborative studies among non-Caucasian populations to validate the role of genetic testing and the use of risk-prediction models in ensuring that the other populations in the world may also benefit from the genomics and genetics era.

breast cancer research

Evaluation of BRCA1 and BRCA2 mutations and risk-prediction models in a typical Asian country (Malaysia) with a relatively low incidence of breast cancer