用于风险分层的遗传和表观遗传标记整合：机遇与挑战
Integration of genetic and epigenetic markers for risk stratification: opportunities and challenges.
作者信息
Pashayan Nora, Reisel Daniel, Widschwendter Martin
机构信息
University College London, Department of Applied Health Research, London, UK.
University College London, Department of Women's Cancer, London, UK.
出版信息
Per Med. 2016 Mar 1;13(2):93-95. doi: 10.2217/pme.15.53.
Common genetic susceptibility variants could be used for risk stratification in risk-tailored cancer screening and prevention programmes. Combining genetic variants with environmental risk factors would improve risk stratification. Epigenetic changes are surrogate markers of environmental exposures during individual's lifetime. Integrating epigenetic markers, in lieu of environmental exposure data, with genetic markers would potentially improve risk stratification. Epigenetic changes are reversible and acquired gradually, providing potentials for prevention and early detection strategies. The epigenetic changes are tissue-specific and stage-of-development-specific, raising challenges in choice of sample and timing for evaluation of cancer-associated changes. The Horizon 2020 funded research programme, FORECEE, using empirical data, will investigate the value of integration of epigenomics with genomics for risk prediction and prevention of women-specific cancers.
常见的遗传易感性变异可用于风险定制的癌症筛查和预防计划中的风险分层。将遗传变异与环境风险因素相结合将改善风险分层。表观遗传变化是个体一生中环境暴露的替代标志物。将表观遗传标志物（代替环境暴露数据）与遗传标志物整合可能会改善风险分层。表观遗传变化是可逆的且逐渐获得，为预防和早期检测策略提供了潜力。表观遗传变化具有组织特异性和发育阶段特异性，这给选择评估癌症相关变化的样本和时间带来了挑战。由“地平线2020”资助的研究计划FORECEE将利用实证数据研究表观基因组学与基因组学整合在女性特定癌症风险预测和预防中的价值。
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