A case of Li-Fraumeni syndrome caused by a 3.6 kb deletion in the TP53 gene suggested by additional data from the NCC Oncopanel.

IF 1.9 4区 医学 Q3 ONCOLOGY
Satoshi Souma, Maki Ogawa, Shin Ito, Kazunori Yamaguchi, Haruna Fujimori, Naoki Asano, Koji Ohnuki, Mika Takeuchi, Kazunori Otsuka, Hidekazu Shirota, Jun Yasuda
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引用次数: 0

Abstract

A Japanese woman with Li-Fraumeni syndrome in her 40s underwent comprehensive genetic profiling accompanied by germline data using the Oncoguide NCC Oncopanel, but no germline pathogenic variants in the tumor suppressor gene TP53 were detected. However, careful examination of additional data in the report suggested the presence of a large TP53 deletion. Custom targeting next-generation sequencing and nanopore sequencing revealed a 3.6 kb deletion located between intron 1 and intron 6 of TP53. This finding indicates that the NCC Oncopanel is suggestive for detecting large germline deletions in tumor suppressor genes.

NCC Oncopanel 的补充数据提示了一例由 TP53 基因 3.6 kb 缺失引起的 Li-Fraumeni 综合征。
一名40多岁患有Li-Fraumeni综合征的日本女性使用Oncoguide NCC oncoppanel进行了全面的遗传分析,并伴有种系数据,但未检测到肿瘤抑制基因TP53的种系致病变异。然而,对报告中其他数据的仔细检查表明存在大量TP53缺失。定制靶向下一代测序和纳米孔测序显示,在TP53的内含子1和内含子6之间存在3.6 kb的缺失。这一发现表明,NCC oncoppanel提示检测肿瘤抑制基因的大种系缺失。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
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来源期刊
CiteScore
3.70
自引率
8.30%
发文量
177
审稿时长
3-8 weeks
期刊介绍: Japanese Journal of Clinical Oncology is a multidisciplinary journal for clinical oncologists which strives to publish high quality manuscripts addressing medical oncology, clinical trials, radiology, surgery, basic research, and palliative care. The journal aims to contribute to the world"s scientific community with special attention to the area of clinical oncology and the Asian region. JJCO publishes various articles types including: ・Original Articles ・Case Reports ・Clinical Trial Notes ・Cancer Genetics Reports ・Epidemiology Notes ・Technical Notes ・Short Communications ・Letters to the Editors ・Solicited Reviews
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