|Table of Contents|

Analysis of gene mutation and related clinical characteristics of cervical cancer based on next generation sequencing

Journal Of Modern Oncology[ISSN:1672-4992/CN:61-1415/R]

Issue:
2024 14
Page:
2601-2606
Research Field:
Publishing date:

Info

Title:
Analysis of gene mutation and related clinical characteristics of cervical cancer based on next generation sequencing
Author(s):
LI Bin1; 2; HE Dongling1; JIANG Dewen1; 2; LYU Qing1; 2; ZHOU Xiao1; 2; LIU Yanjie1; 2
1.Department of Pathology,Guizhou Medical University，Guizhou Guiyang 550004,China;2.Department of Pathology,Affiliated Hospital of Guizhou Medical University,Guizhou Guiyang 550004,China.
Keywords:
cervical cancer; next generation sequencing; mutation; gene; clinical features
PACS:
R737.33
DOI:
10.3969/j.issn.1672-4992.2024.14.019
Abstract:
Objective:To investigate the relationship between somatic mutated genes and clinicopathological features of cervical cancer(CC).Methods:The genomic DNA of 113 CC patients were extracted,the somatic mutations were detected by next generation sequencing technology and the mutant sites were screened,classified and analyzed.Results:A total of 324 somatic mutation gene and their corresponding 3 677 mutant sites were detected in tissue samples from 113 CC patients.Including missense mutations,nonsense mutations,5' non-coding mutations,silent mutations,intron mutations,3' non-coding mutations,non-frameshift deletion mutations,frameshift deletion mutations,and frameshift insertion mutations,a total of 9 variation types.Among them,missense mutations accounted for 69.73% (2 564/3 677) of all variants.KEGG pathway enrichment analysis showed that mutant genes were enriched in PI3K-Akt,MAPK and other signaling pathways,and interaction analysis of TOP20 genes showed that most gene mutations were synergistic.Of the 3 677 mutation sites,166 pathogenic mutation sites were identified,of which 47 were not included in the COSMIC,ONCOKBTM and HGMD databases.Statistical analysis showed that the pathogenic mutations were significantly different in the depth of HPV infection and tumor invasion (P＜0.05).Conclusion:The distribution of mutant genes in CC system was described.The top five genes were PIK3CA,NOTCH1,ERBB2,EGFR and FBXW7.Most of the mutations were co-occurring and synergistic.Pathogenic mutations were detected in 87 patients (76.99%),and 53 genes associated with pathogenic mutations were potentially important factors to promote the development of CC.47 newly discovered mutation sites may participate in the pathogenesis of CC occurrence and development,and may become the mutation sites that need attention in the future.

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Memo

Memo:
National Natural Science Foundation of China(No.81960572）；国家自然科学基金（编号：81960572）；贵州省科技厅科技支撑计划资助项目［编号：黔科合支撑（2019）2791］；贵州省贵阳市科技计划资助项目［编号：筑科合同（2019）9-1-16］
Last Update: 1900-01-01