封面專題•COVER STORY 澳大新語•2020 UMAGAZINE 22 17 研究中使用的 樣本來自中國內地 不同省份，不同顏 色漸變代表每個省 的參與者比率。 Samples used in the study originated from different provinces of mainland China. The colour gradients represent the rates of participants from each province. 乳腺癌跟遺傳基因突變有著密切關係， 其中攜帶BRCA1和BRCA2基因突變的人 群發病風險極高。王教授和上海交通大 學、中國科學院以及內地健康企業等組 成的團隊合作，對中國人群進行BRCA1/ BRCA2基因檢測，他說：「我們運用第 二代基因測序，在澳門大學高性能計算集 群超級電腦展開生物信息學大數據分析， 並通過實驗方法驗證，篩查了來自全國 各省份11,386個體。研究發現，中國人 群中平均每256人中就有一位帶有遺傳性 BRCA1/BRCA2致病性突變，共有510萬 突變攜帶者。」 基於是次發現，王教授建議所有18歲以 上人士一生做一次BRCA1/BRCA2基因檢 測，「突變攜帶者有以下四種癌症預防手 段，一是定期身體檢查；二是藥物預防； 三是預防性手術；四是採用試管嬰兒的辦 法阻斷下一代攜帶家族性的遺傳突變。」 王教授表示，BRCA1和BRCA2基因突變 檢測成本低而防癌效果確切。他計劃通 過澳大在粵港澳大灣區的首個產學研示範 基地——珠海澳大科技研究院，與業界合 作推廣大規模人群基因檢測，「BRCA1 和BRCA2基因突變檢測具有極大應用價 值，希望通過市場化的推廣，為廣大市民 提供相關檢測服務。」 Breast cancer is closely related to inherited genetic mutations, and people with mutations in BRCA1 and BRCA2 genes are at high risk for cancer. By working with a team formed by cancer experts at Shanghai Jiaotong University, Chinese Academy of Sciences, and health examination companies in mainland China, Prof Wang tested the BRCA1/BRCA2 genes of people in various Chinese provinces. He says, ‘In our study, we used second-generation gene sequencing to collect BRCA sequences, and bioinformatics tools to analyse big sequence data with the help of the high-performance computing cluster at the University of Macau (UM), and obtained experimental validation of the results. We screened 11,386 individuals from nearly all provinces in China. The study has found that an average of one in every 256 people in China carries a hereditary BRCA1/BRCA2 pathogenic mutation, and there are a total of 5.1 million mutation carriers in China.’ Based on the findings of the study, Prof Wang recommends that those over the age of 18 should have a BRCA1/BRCA2 gene testing during their lifetime. He explains that for mutation carriers, there are four ways to prevent cancer: regular physical examination, preventive drugs, preventive surgery, and in vitro fertilisation to prevent the transmission of hereditary genetic mutation to the next generation. According to Prof Wang, the detection of BRCA1 and BRCA2 gene mutations is a low-cost yet highly effective way to prevent cancer. Next, he plans to promote large-scale populational genetic testing by working with the Zhuhai UM Science and Technology Research Institute, which is UM’s first institute in the Guangdong‑Hong Kong‑Macao Greater Bay Area for industry-university-research collaboration. He says, ‘BRCA1 and BRCA2 gene mutation detection has great practical value, and I hope to promote the testing services to the general public.’ 王山鳴教授的研究重點為運用醫學遺傳學、基因組學和生物信息學的方法理解遺傳因素在癌症發生上的作用，以 及發展在群體水平預防遺傳突變所致癌症的策略。 Prof Wang San Ming focuses on medical genetics, genomics, and bioinformatics approaches to understand the roles of genetic mutations in the development of cancer, so that his team can develop strategies to prevent cancer caused by genetic mutations.
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