» Articles » PMID: 39033182

A Panel Sequencing Dataset of Peripheral Blood Gene Variations in Pan-cancer

Overview
Journal Sci Data
Specialty Science
Date 2024 Jul 20
PMID 39033182
Authors
Affiliations
Soon will be listed here.
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.

References
1.
Ng C, Di Costanzo G, Tosti N, Paradiso V, Coto-Llerena M, Roscigno G . Genetic profiling using plasma-derived cell-free DNA in therapy-naïve hepatocellular carcinoma patients: a pilot study. Ann Oncol. 2018; 29(5):1286-1291. DOI: 10.1093/annonc/mdy083. View

2.
Li H, Durbin R . Fast and accurate short read alignment with Burrows-Wheeler transform. Bioinformatics. 2009; 25(14):1754-60. PMC: 2705234. DOI: 10.1093/bioinformatics/btp324. View

3.
Pan Q, Liu Y, Bai X, Han X, Jiang Y, Ai B . VARAdb: a comprehensive variation annotation database for human. Nucleic Acids Res. 2020; 49(D1):D1431-D1444. PMC: 7779011. DOI: 10.1093/nar/gkaa922. View

4.
. Database Resources of the National Genomics Data Center, China National Center for Bioinformation in 2022. Nucleic Acids Res. 2021; 50(D1):D27-D38. PMC: 8728233. DOI: 10.1093/nar/gkab951. View

5.
Sondka Z, Dhir N, Carvalho-Silva D, Jupe S, Madhumita , McLaren K . COSMIC: a curated database of somatic variants and clinical data for cancer. Nucleic Acids Res. 2024; 52(D1):D1210-D1217. PMC: 10767972. DOI: 10.1093/nar/gkad986. View