A panel sequencing dataset of peripheral blood gene variations in pan-cancer

泛癌症外周血基因变异面板测序数据集

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作者:Yanxia Liu #, Jie Liu #, Shouwei Zhang, Jinyue Wang, Zhihong Sun, Huaibo Sun, Ying Yang, Guangmin Zheng, Yu Huang, Meng Li, Zhaojun Zhang, Jingfa Xiao, Changqing Zeng, Chengming Sun, Hongzhu Qu, Xiangdong Fang6

Abstract

Circulating cell-free DNA (cfDNA) in the peripheral blood is a promising biomarker for cancer diagnosis and prognosis. Somatic mutations identified in cancers have been used to detect therapeutic targets for clinical transformation and individualize drug selection, while germline variants can predict a patient's risk of developing cancer and drug sensitivity. However, no platform has been developed to analyze, calculate, integrate, and friendly visualize these pan-cancer cfDNA mutations deeply. In this work, we performed panel sequencing encompassing 1,115 cancer-related genes across 16,659 cancer patients, spanning 27 cancer types. We detected 496 germline variants in leukocytes and 11,232 somatic mutations in the cfDNA of all patients. CPGV (Cancer Peripheral blood Gene Variations), a database constructed from this dataset, is the first pan-cancer cfDNA database that encompasses somatic mutations, germline variants, and further comparative analyses of mutations across different cancer types. It bears great promise to serve as a valuable resource for cancer research.

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