结合环境及遗传风险因素区分出结直肠癌高危个体
创作:szx 审核:szx 2019年06月17日
  • 纳入1014名受试者,将已知的环境风险因素与遗传风险因素结合为晚期结直肠肿瘤(ACRN)风险分数;
  • 相比于环境风险分数较低的受试者,具有中等及高环境风险分数的受试者的ACRN风险分别上升3.1倍及4.8倍;
  • 相比于遗传风险分数较低的受试者,具有中等及高遗传风险分数的受试者的ACRN风险分别上升2.2倍及3.5倍;
  • 结合环境与遗传风险分数可显著提升ACRN风险分数的分层,预测ACRN的能力相比于单独的环境风险分数有显著提升,AUC为0.64。
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szx
International Journal of Cancer上发表的一项最新研究,发现将环境风险因素与遗传风险因素相结合,可更好地预测晚期结直肠癌,并能够更好地区分出结直肠癌高危个体。
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Performance of individual and joint risk stratification by an environmental risk score and a genetic risk score in a colorectal cancer screening setting

在结直肠癌筛查中,利用单独或合并的环境及遗传风险分数进行风险分层

10.1002/ijc.32272

2019-03-14, Article

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Abstract:收起
Early detection of colorectal neoplasms can reduce the disease burden of colorectal cancer by timely intervention of individuals at high risk. Our aim was to evaluate a joint environmental-genetic risk score as a risk stratification tool for early detection of advanced colorectal neoplasm (ACRN). Known environmental risk factors and high-risk genetic loci were summarized into risk scores for ACRN in 1014 eligible participants of a screening study. The performances of single and joint environmental-genetic scores were evaluated with estimates and 95% confidence intervals (CI) of the absolute risk, relative risk and predictive ability using the area under the curve (AUC). Individuals with higher environmental risk scores showed increasing ACRN risk, with 3.1-fold for intermediate risk and 4.8-fold for very high risk, compared to the very low environmental risk group. Similarly, individuals with higher genetic risk scores showed increasing ACRN risk, with 2.2-fold for intermediate risk and 3.5-fold for very high risk, compared to the lowest genetic risk group. Moreover, the joint environmental-genetic score improved the ACRN risk stratification and showed higher predictive values (AUC = 0.64; 95%CI = 0.60-0.67) with substantial difference (p = 0.0002) compared to the single environmental score (0.58; 0.55-0.62). The integration of environmental and genetic factors looks promising for improving targeting individuals at high-risk of colorectal neoplasm. Applications in practical screening programs require optimization with additional genetic and other biomarkers involved in colorectal carcinogenesis.

First Authors:
Yesilda Balavarca

Correspondence Authors:
Yesilda Balavarca

All Authors:
Yesilda Balavarca,Korbinian Weigl,Hauke Thomsen,Hermann Brenner

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