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期刊来源：Nat Med

原文链接：https://doi.org/10.1038/s41591-024-02837-7

摘要内容如下：

由于放射疗法和其他治疗照射的晚期效应，儿童癌症幸存者患后续癌症的风险增加；因此，需要进一步了解遗传易感性对风险的影响。结合来自儿童癌症幸存者研究和圣犹达终生队列的11，220名5年存活者的基因型数据，我们发现，来自普通人群、全基因组关联研究和癌症基因座的癌症特异性多基因风险评分（PRS）确定了欧洲血统的存活者随后发生基底细胞癌的风险增加（PRS的每个标准差的优势比：OR=1.37，95%置信区间（CI）=1.29-1.46）。女性乳腺癌（OR=1.42，95%CI=1.27-1.58）、甲状腺癌（OR=1.48，95%CI=1.31-1.67）、鳞状细胞癌（OR=1.20，95%CI=1.00-1.44）和黑色素瘤（OR=1.60，95%CI=1.31-1.96）；然而，与结直肠癌的相关性不显著（OR=1.19，95%CI=0.94-1.52）。一项关于PRSS和放射治疗之间的联合相关性的调查发现，基底细胞癌、乳腺癌和甲状腺癌的风险增加了。对于接受放射治疗的存活者，高PRS与低PRS相比，50岁时后续癌症的累积发病率增加。这些发现表明，在普通人群和存活者中，这些恶性肿瘤类型存在一定程度的共同遗传病因，这在强烈的放射治疗相关风险背景下仍然很明显。

英文原文如下：

Abstracts

Survivors of childhood cancer are at increased risk for subsequent cancers attributable to the late effects of radiotherapy and other treatment exposures; thus, further understanding of the impact of genetic predisposition on risk is needed. Combining genotype data for 11,220 5-year survivors from the Childhood Cancer Survivor Study and the St Jude Lifetime Cohort, we found that cancer-specific polygenic risk scores (PRSs) derived from general population, genome-wide association study, cancer loci identified survivors of European ancestry at increased risk of subsequent basal cell carcinoma (odds ratio per s.d. of the PRS: OR = 1.37, 95% confidence interval (CI) = 1.29-1.46), female breast cancer (OR = 1.42, 95% CI = 1.27-1.58), thyroid cancer (OR = 1.48, 95% CI = 1.31-1.67), squamous cell carcinoma (OR = 1.20, 95% CI = 1.00-1.44) and melanoma (OR = 1.60, 95% CI = 1.31-1.96); however, the association for colorectal cancer was not significant (OR = 1.19, 95% CI = 0.94-1.52). An investigation of joint associations between PRSs and radiotherapy found more than additive increased risks of basal cell carcinoma, and breast and thyroid cancers. For survivors with radiotherapy exposure, the cumulative incidence of subsequent cancer by age 50 years was increased for those with high versus low PRS. These findings suggest a degree of shared genetic etiology for these malignancy types in the general population and survivors, which remains evident in the context of strong radiotherapy-related risk.

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