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Jul 20, 2024;11 (1): 805.

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

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 Fang
Author Information
  1. Yanxia Liu: China National Center for Bioinformation, Beijing, 100101, China.
  2. Jie Liu: Yantai Yuhuangding Hospital, Yantai, 264000, China.
  3. Shouwei Zhang: Genecast Biotechnology Co., Ltd, Wuxi, 214104, China.
  4. Jinyue Wang: Beijing Institute of Genomics, Chinese Academy of Sciences, Beijing, 100101, China.
  5. Zhihong Sun: Yantai Yuhuangding Hospital, Yantai, 264000, China.
  6. Huaibo Sun: Genecast Biotechnology Co., Ltd, Wuxi, 214104, China.
  7. Ying Yang: Genecast Biotechnology Co., Ltd, Wuxi, 214104, China.
  8. Guangmin Zheng: China National Center for Bioinformation, Beijing, 100101, China.
  9. Yu Huang: Genecast Biotechnology Co., Ltd, Wuxi, 214104, China.
  10. Meng Li: China National Center for Bioinformation, Beijing, 100101, China.
  11. Zhaojun Zhang: China National Center for Bioinformation, Beijing, 100101, China.
  12. Jingfa Xiao: China National Center for Bioinformation, Beijing, 100101, China.
  13. Changqing Zeng: China National Center for Bioinformation, Beijing, 100101, China.
  14. Chengming Sun: Yantai Yuhuangding Hospital, Yantai, 264000, China. 18953569897@163.com.
  15. Hongzhu Qu: China National Center for Bioinformation, Beijing, 100101, China. quhongzhu@big.ac.cn.
  16. Xiangdong Fang: China National Center for Bioinformation, Beijing, 100101, China. fangxd@big.ac.cn.
PMID: 39033182 DOI: 10.1038/s41597-024-03620-6

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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MeSH Term

Humans
Neoplasms
Mutation
Germ-Line Mutation
Cell-Free Nucleic Acids
Biomarkers, Tumor
Genetic Variation
Databases, Genetic

Chemicals

Cell-Free Nucleic Acids
Biomarkers, Tumor
Dataset Journal Article

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