日本恶性实体瘤患者综合基因组图谱的基因组概况。

IF 2.4 3区 医学 Q3 ONCOLOGY
Tatsuro Yamaguchi, Masachika Ikegami, Tomoyuki Aruga, Yusuke Kanemasa, Shin-Ichiro Horiguchi, Kazushige Kawai, Misato Takao, Takeshi Yamada, Hideyuki Ishida
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引用次数: 0

摘要

背景:全面基因组分析(CGP)有助于发现对临床有用的候选抗肿瘤药物;然而,各种类型的CGP检测和公共数据库中的变异注释有时并不相同。本研究的目的是明确评估恶性实体瘤患者检测到的变异的基因组情况:本横断面研究使用了2019年6月1日至2023年8月18日期间在癌症基因组学与高级治疗中心(Center for Cancer Genomics and Advanced Therapeutics,C-CAT)接受CGP检测的57084名恶性实体瘤患者的数据。利用公共数据库对变异的致病性进行了注释:结果:对检测到的变异进行重新注释后,20.1%为致病性变异,1.4%为良性变异。每位患者致病变异的平均数量为 4.30 个(95% 置信区间:4.27-4.32)。在整个群体中,5.7%的患者没有致病变异。基因的共同出现取决于肿瘤类型。在使用肿瘤/正常基因组、纯肿瘤基因组和液体基因组的患者中,分别有6.2%、8.8%和15.8%的患者检测到了基因变异,其中最常见的基因是BRCA2,其次是TP53和BRCA1:从这些结果中得出的基因组图谱将有助于研究人员和医生解释 CGP 检测结果。从使用纯肿瘤面板或循环肿瘤 DNA 面板的患者中提取推定的种系致病变体的方法需要改进。
本文章由计算机程序翻译,如有差异,请以英文原文为准。

Genomic landscape of comprehensive genomic profiling in patients with malignant solid tumors in Japan.

Genomic landscape of comprehensive genomic profiling in patients with malignant solid tumors in Japan.

Background: 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.

Methods: 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.

Results: 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.

Conclusions: 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.

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来源期刊
CiteScore
6.80
自引率
3.00%
发文量
175
审稿时长
2 months
期刊介绍: The International Journal of Clinical Oncology (IJCO) welcomes original research papers on all aspects of clinical oncology that report the results of novel and timely investigations. Reports on clinical trials are encouraged. Experimental studies will also be accepted if they have obvious relevance to clinical oncology. Membership in the Japan Society of Clinical Oncology is not a prerequisite for submission to the journal. Papers are received on the understanding that: their contents have not been published in whole or in part elsewhere; that they are subject to peer review by at least two referees and the Editors, and to editorial revision of the language and contents; and that the Editors are responsible for their acceptance, rejection, and order of publication.
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