Microsatellite instability (MSI) is an important molecular subtype of colorectal cancer (CRC).
However, the molecular characteristics of MSI in Chinese patients with CRC remain unclear. The aim of this study was to investigate the molecular characteristics of MSI in Chinese patients with CRC. A total of 14,239 individuals with CRC were analyzed using tumor tissue and plasma samples for single nucleotide variations (SNVs), insertion-deletions (Indels), copy number variations (CNVs), fusion, MSI, tumor mutational burden (TMB), Epstein-Barr virus (EBV), and homologous recombination deficiency (HRD) using next-generation sequencing (NGS). The incidence rate of MSI was found to be 7.15%, and patients with microsatellite instability-high (MSI-H) tumors showed variations in age at diagnosis, tumor location, and sample type.
TMB was significantly higher in patients with MSI-H tumors than in those with microsatellite stable tumors (MSS) (92.28 vs. 12.07 mutations/Mb, P
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