Abstract
Esophageal carcinoma (EC) is the eighth most common malignancy worldwide and the ninth most mortality. It can be classified into Squamous cell carcinoma (SCC) and Adenocarcinoma (ADC). There are reports of a high incidence and a poor 5-year survival rate of EC. Most people who visited the doctor were in advanced stages. Whole-exome Sequencing (WES) and Whole-Genome Sequencing (WGS) techniques have shown that several mutations and alterations in a variety of genes and gene regions are related to a number of signaling pathways. The hallmark of cancer is associated to these signaling pathways. In esophageal SCC, the CCND1, CCNE1, CDK6, WWOX, and RB1 genes are frequently altered. But a poor prognosis, advanced disease stages, relapses, and metastasis are related to loss of heterozygosity and reduced gene expression. Unfortunately, there are few reports of gene alterations or mutations in esophageal SCC. It does contain some studies on gene mutation and esophageal cancer. Single nucleotide polymorphisms (SNPs) in the WWOX gene were discovered to be risk factors for the development of esophageal SCC. In this investigation, blood samples from patients who hadn't had radiotherapy or chemotherapy were collected to investigate WWOX gene alteration using whole exome sequencing. The sequencing of 32 samples was done. The data indicated that every sample carried a mutation, the exon of this gene only contained six different mutations. It included 4 missense mutations and 2 synonymous mutations. In several samples, we also discovered novel SNPs. Unfortunately, only one novel SNP was altered in exon region. As a result, we are unable to conclude that those mutations have any impact on patients or diseases as they have no role in protein coding. Additionally, several samples have InDel alterations. All the novel InDel variants that we discovered are in the gene's intron regions. Due to the identification of rs75559202 C>G and rs3764340 C>G in our investigation, we are able to declare those alteration to be pathogenic variants. It may be very useful for enabling us to understand the relationship between variations and the disease. The data may be helpful to develop personalized medicine and targeted drug.
