Esophageal squamous cell carcinoma develops in significant association with chronic exposure to drinking and smoking, frequently in a metachronous manner.
More...Esophageal squamous cell carcinoma develops in significant association with chronic exposure to drinking and smoking, frequently in a metachronous manner. To understand the genetic basis of clonal evolutions and their field effect contributions toward ESCC, we conducted multi-region sequencing in apparently normal non-dysplasia and dysplasia/cancer esophageal tissues. Mutations were identified in 96.9% of non-dysplasticnormal tissues, where NOTCH1, TP53 were significantly mutated. In dysplasia and cancer, NOTCH1 mutations were less frequent, whereas TP53 mutations and focal copy number lesions were dominant. Additional micrometer-resolution normal epitheliumnon-dysplasia analyses revealed bi-allelic NOTCH1 and TP53 mutations. The molecular profiles correlated strongly with alcohol- and smoking-related mutational signatures at all pathological stages, with an APOBEC-related signature predominant in cancer. ENon-dysplastic esophageal normal tissues of alcohol- and tobacco-consuming patients highlight genetically distinct non-cancerous clonal expansion.
Less...| Accession | PRJEB26389 |
| Scope | Monoisolate |
| Submission | Registration date: 24-Jun-2018
Kyoto University |
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