Novel genomic alteration in superficial esophageal squamous cell neoplasms in non-smoker non-drinker females.

ABSTRACT: Alcohol consumption and smoking pose a significant risk for esophageal squamous cell neoplasia (ESCN) development in males; however, ESCN is often diagnosed in non-drinking and non-smoking females. The mechanisms underlying these differences remain elusive, and understanding them can potentially identify novel pathways involved in ESCN development. We performed short-read sequencing to identify somatic variants on a cancer panel targeting 409 genes using DNA extracted from the superficial squamous cell carcinoma (ESCC) tissues and adjacent non-neoplastic epithelium (NE), and immunohistochemical staining of the protein encoded by the target gene. All male patients (n = 117) were drinkers or smokers, whereas 45% of the female patients (n = 33) were not. Somatic variants were compared among t

SUBMITTER: Onozato Y 

PROVIDER: S-EPMC8505482 | biostudies-literature | 2021 Oct

REPOSITORIES: biostudies-literature