中国乳腺癌专病队列研究：泛共享生物样本库的建设与进展

目的 生物样本库建设在疾病的精准预防、诊治研究中发挥着不可替代的作用,基于大人群队列的可共享生物样本库网络是未来发展方向。本研究的生物样本库是国家精准医学计划“中国乳腺癌专病队列研究”的重点内容之一,旨在解决标准化程度不足、共享性不够的瓶颈。方法 通过建设“实体库-信息库-延伸库”、泛共享的乳腺癌专病队列生物样本库网络以及建立严格的标准制定与质量控制标准建设标准化生物样本库。结果 生物样本库为乳腺癌风险评估、预测预警、早期筛查、分型分类、个体化治疗、疗效和安全性预测及监控等精准防治诊治方案和临床决策系统研究提供可共享的生物样本库资源。结论 生物样本库资料细化完整,病例样本量充足,可满足医疗大数据、基因组学、代谢组学和表观遗传学等多个领域的研究需要。

The Breast Cancer Cohort Study in Chinese Women: the construction and progress of the pan-shared biobank

Objective Biobank construction plays an irreplaceable role in the research of accurate prevention and treatment of diseases. Shared biobank network based on a large crowd queue is the way of the future. This subject is one of the key contents of national precision medicine "The Breast Cancer Cohort Study in Chinese Women:(BCCS-CW)", aiming to solve the bottleneck of insufficient standardization and sharing. Methods The establishment of "entity library-information library-extension library", the widely Shared network of biobank of breast cancer specific disease cohort, and the establishment of strict standard setting and quality control standard to construct the standardized biobank. Results This biobank provides a shared biobank resource for breast cancer risk assessment, prediction and early warning, early screening, classification, individualized treatment, efficacy and safety prediction and monitoring and other accurate prevention and treatment programs and clinical decision-making system research. Conclusion The data of this biological sample bank is refined and complete, and the sample size of cases is sufficient, which can meet the research needs of medical big data, genomics, metabonomics, epigenetics and other fields.