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The impact of mutations in key genes on the pathogenesis of esophageal cancer
- 1 Sichuan University
* Author to whom correspondence should be addressed.
Abstract
Esophageal cancer (EC) ranks seventh among all cancers in terms of frequency and is the sixth leading cause of cancer-related deaths worldwide. The 5-year relative survival rate for esophageal cancer stands at a dismal 21%, which is nearly the lowest among all cancers. In China alone, over 477,900 individuals are diagnosed with EC annually. Advances in whole-genome sequencing technologies have enabled researchers to identify numerous gene mutations across the entire gene sequence in EC patients. This paper aims to consolidate current knowledge on several key genes implicated in EC, as revealed by whole-genome sequencing of patient biopsies. By examining research papers published within the last decade, this study captures the main findings and elucidates the influence of mutations in SOX2, TP53, NOTCH1, SMAD4, and CDKN2A on the formation, progression, and prognosis of both esophageal adenocarcinomas and squamous cell carcinomas. The insights gained are expected to contribute positively to the overall comprehension of esophageal cancer.
Keywords
esophagus cancer, SOX2, TP53, NOTCH1, SMAD4, CDKN2A
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Cite this article
Shi,X. (2024). The impact of mutations in key genes on the pathogenesis of esophageal cancer. Theoretical and Natural Science,40,209-215.
Data availability
The datasets used and/or analyzed during the current study will be available from the authors upon reasonable request.
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Volume title: Proceedings of the 4th International Conference on Biological Engineering and Medical Science
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