A genetic study in Asian women, led by Malaysian scientists in collaboration with Singapore and the University of Cambridge, has revealed that a genetic tool developed to help assess breast cancer risk in European women also works in Asian women. This could help address the rising incidence of breast cancer in Asia.

该工具名为多基因风险评分（PRS），可根据人们的基因序列将其分为不同的风险组，以预测她们将来患乳腺癌的风险。评估结果可以使妇女能够决定哪种筛查和预防方法适合自己，并有助于减少不必要的费用，甚至减少因过度诊断而造成的伤害。

The tool, called a Polygenic Risk Score (PRS), separates people into different risk groups based on their genetic sequence to predict their future risk of developing breast cancer. The results can empower women to decide which screening and prevention is right for them, and help reduce inefficiency, unnecessary cost, and even possible harm caused by over-diagnosis. 

这是在亚洲人群中首次进行大型PRS研究。在此之前，由于在亚洲女性中的研究规模比欧洲女性小六倍，导致缺乏亚洲数据，无从得知PRS是否可以有效地预测非欧洲妇女的乳腺癌风险。

This is the first large study of the PRS in an Asian population. Previously, Asian studies were nearly six times smaller than studies in European women, and due to lack of data in Asians it was unclear if PRSs are effective in predicting breast cancer risk in non-European women. 

“我们一直在开发一种预测欧洲女性乳腺癌风险的模型，其中包括PRS，目前已被批准用于临床。这项研究是朝着在亚洲女性的临床管理中使用此类工具迈出的第一步”，剑桥大学公共卫生和初级保健系的安东尼斯·安东尼奥教授说。

“We have been developing a model for predicting breast cancer risk in European women that includes the PRS and this is now approved for clinical use. This study is the first big step towards enabling the use of such tools in the clinical management of women of Asian ancestry,” said Professor Antonis Antoniou at the University of Cambridge’s Department of Public Health and Primary Care, and co-lead of the study. 

通过来自马来西亚和新加坡的大量新增数据，PRS已被证明可以帮助更准确地识别乳腺癌的高危人群。结果表明，只有30％的马来西亚和新加坡女性具有与欧洲女性相似的预测风险，并且使用PRS可以准确地识别出这些高风险女性。该研究结果发表在《自然通讯》杂志上。

Through the significant increase in data from Malaysia and Singapore, PRSs have been shown to help identify more accurately who is at high risk of breast cancer. The results suggest that only 30% of Malaysian and Singaporean women have a predicted risk similar to that of European women, and that using the PRS accurately identifies these high-risk women. The study is published today in the journal Nature Communications. 

“将遗传因素整合到一个综合模型中，对于从研究转向女性使用的工具至关重要。我们评估了来自新加坡，马来西亚，日本，韩国，中国，香港，泰国，台湾，美国和加拿大的45,212名亚洲女性的PRS。此类研究需要大量样本，因此将马来亚大学，梳邦再也医学中心，新加坡国立大学医院以及新加坡其他六个主要治疗中心的患者聚集在一起，确实为我们提供了样本量，实现了评估能力”，该研究的第一作者，马来西亚诺丁汉大学副教授Ho Weang Kee说。

“Combining genetic factors into one comprehensive model is critical to move from the research to a tool for women to use. We evaluated the PRS in 45,212 Asian women, from Singapore, Malaysia, Japan, Korea, China, Hong Kong, Thailand, Taiwan, USA, and Canada. Studies such as these require large sample sizes, and so, bringing together patients from University Malaya, Subang Jaya Medical Centre, National University Hospital, Singapore, and six other major treatment centres in Singapore really gave us the sample size to be able to evaluate the tool in Asians,” said Associate Professor Ho Weang Kee at the University of Nottingham in Malaysia, and first author of the study. 

通常建议女性在50岁时开始筛查。但是，在大多数亚洲国家，许多可能患乳腺癌的女性不进行筛查。这导致发现较晚和较低的存活率。 

Women are generally recommended to start screening at age 50. However, in most Asian countries, many women who could be at risk of breast cancer do not go for screening. This leads to late detection and a lower survival rate. 

“我们的研究是难题的关键部分，这有助于我们更好地了解世界各地不同女性的乳腺癌风险。与欧洲血统的女性相比，亚洲女性的基因组成存在差异，这意味着她们患乳腺癌的倾向可能有所不同。了解这一点可以帮助我们弄清为什么某些女性患该病的风险更高，而这反过来又应有助于我们改善对该疾病的筛查，预防和最终治疗”，剑桥大学癌症遗传流行病学中心主任道格拉斯·伊斯顿教授说。

“Our study is a critical piece of the puzzle that helps us better understand breast cancer risks in different women around the world. There are differences in the genetic make-up of Asian women compared to women of European descent, which means their propensity to develop breast cancer may be different. Understanding this can help us to work out why some women are at higher risk of the disease, which in turn should help us to improve screening, prevention and ultimately treatment of the disease,” said Professor Douglas Easton, Director of the Centre for Cancer Genetic Epidemiology at the University of Cambridge, and co-lead of the study. 

迫切需要为亚洲女性制定适当的筛查策略。马来西亚预计从2012年到2025年，乳腺癌病例将增加49％。与其他亚洲国家相比，马来西亚的五年存活率要低得多，仅为63％，而韩国为92％，新加坡为80％。

There is an urgent need to develop an appropriate screening strategy for Asian women. Malaysia anticipates a 49% increase in breast cancer cases from 2012 to 2025. Malaysia has a much lower five-year survival rate compared to other Asian countries at only 63%, whereas South Korea is at 92% and Singapore is at 80%. 

“基于风险的筛查在马来西亚等没有基于人口筛查的中低资源国家中尤其重要。如果没有用于基于人口筛查的资金，那么确定较高风险的个体可能是早期发现的重要策略”，马来西亚马来亚大学癌症研究所的Nur Aishah Mohd Taib教授说。

“Risk-based screening may be particularly important in low- and middle-resource countries that do not have population-based screening, such as Malaysia. Without the funding for population-based screening, identifying individuals with higher risk may be an important strategy for early detection,” said Professor Nur Aishah Mohd Taib, Universiti Malaya Cancer Research Institute, Malaysia.