全面的基因组分析（CGP）可以帮助发现临床上有用的候选抗肿瘤药物；然而，不同类型的 CGP 测试以及公共数据库之间的变异注释有时会有所不同。本研究的目的是阐明评估恶性实体瘤患者中检测到的变异的基因组图谱。目前的横断面研究使用了来自 57,084 名在癌症基因组学中心接受 CGP 的恶性实体瘤患者的数据， Advanced Therapeutics (C-CAT)于2019年6月1日至2023年8月18日期间进行。使用公共数据库注释了变异的致病性。对检测到的变异进行重新注释的结果是，20.1%为致病性，1.4%为良性。每个患者的平均致病变异数为 4.30（95% 置信区间：4.27-4.32）。在整个队列中，5.7% 的人没有致病变异。基因的共现取决于肿瘤类型。使用肿瘤/正常组、仅肿瘤组和液体组分别在 6.2%、8.8% 和 15.8% 的患者中检测到种系结果，最常见的基因是 BRCA2，其次是 TP53 和 BRCA1。变异应该重新注释，因为 CGP 中包含了一些良性变异或意义不明的变异，从这些结果得出的基因组图谱将帮助研究人员和医生解释 CGP 测试的结果。使用纯肿瘤组或循环肿瘤 DNA 组从患者中提取推定种系致病性变异的方法需要改进。© 2024。作者获得日本临床肿瘤学会的独家许可。

Comprehensive genomic profiling (CGP) can aid the discovery of clinically useful, candidate antitumor agents; however, the variant annotations sometimes differ among the various types of CGP tests as well as the public database. The aim of this study is to clarify the genomic landscape of evaluating detected variants in patients with a malignant solid tumor.The present, cross-sectional study used data from 57,084 patients with a malignant solid tumor who underwent CGP at the Center for Cancer Genomics and Advanced Therapeutics (C-CAT) between June 1, 2019 and August 18, 2023. The pathogenicity of the variants was annotated using public databases.As a result of re-annotation of the detected variants, 20.1% were pathogenic and 1.4% were benign. The mean number of pathogenic variants was 4.30 (95% confidence interval: 4.27-4.32) per patient. Of the entire cohort, 5.7% had no pathogenic variant. The co-occurrence of the genes depended on the tumor type. Germline findings were detected in 6.2%, 8.8%, and 15.8% of the patients using a tumor/normal panel, tumor-only panel, and liquid panel, respectively, with the most common gene being BRCA2 followed by TP53 and BRCA1.The detected variants should be re-annotated because several benign variants or variants of unknown significance were included in the CGP, and the genomic landscape derived from these results will help researchers and physicians interpret the results of CGP tests. The method of extracting presumptive, germline, pathogenic variants from patients using a tumor-only panel or circulating tumor DNA panel requires improvement.© 2024. The Author(s) under exclusive licence to Japan Society of Clinical Oncology.