Potential utility of risk stratification for multicancer screening with liquid biopsy tests.

Potential utility of risk stratification for multicancer screening with liquid biopsy tests.
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DOI:
10.1038/s41698-023-00377-w
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发表时间:
2023-04-22
影响因子:
7.9
通讯作者:
--
中科院分区:
医学1区
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--
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我们的概念验证研究通过年龄、多基因风险评分(PRS)和非遗传风险因素的综合作用揭示了风险分层的潜力,以增加快速新兴的非侵入性多癌早期检测(MCED)液体活检检测的风险-获益平衡。我们开发并验证了性别特异性泛癌症风险评分(PCRS),由体重指数,吸烟,癌症家族史和癌症特异性多基因风险评分(PRS)的组合定义,以预测发展至少一种常见癌症类型的绝对风险。我们证明了PRSs在提高风险因素模型预测性能方面的附加价值,并预测了两个有希望的多癌筛查试验的阳性和阴性预测值,这些筛查试验跨越了由年龄和PCRS定义的风险层。
Our proof-of-concept study reveals the potential of risk stratification by the combined effects of age, polygenic risk scores (PRS), and non-genetic risk factors in increasing the risk-benefit balance of rapidly emerging non-invasive multicancer early detection (MCED) liquid biopsy tests. We develop and validate sex-specific pan-cancer risk scores (PCRSs), defined by the combination of body mass index, smoking, family history of cancers, and cancer-specific polygenic risk scores (PRSs), to predict the absolute risk of developing at least one of the many common cancer types. We demonstrate the added value of PRSs in improving the predictive performance of the risk factors only model and project the positive and negative predictive values for two promising multicancer screening tests across risk strata defined by age and PCRS.
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