Integrating genetic and lifestyle determinants in a risk prediction model for esophageal squamous cell carcinoma in Taiwan.

Source: PubMed, NCBI / U.S. National Library of Medicine

Esophageal squamous cell carcinoma (ESCC) in East Asia is markedly male predominant, strongly associated with genetic susceptibility and modifiable lifestyle exposures. We developed and validated a risk appraisal model for ESCC by integrating genetic polymorphisms of two key alcohol-metabolizing enzymes-ADH1B and ALDH2-with major carcinogenic exposures from alcohol, tobacco, and betel quid among men. Genetic and lifestyle data were collected from independent cohorts including only male population across five tertiary centers in Taiwan. The training cohort included 396 ESCC patients and 647 controls, and the validation cohort comprised 256 ESCC patients and 260 controls. Six significant predictors were incorporated into a composite risk score derived from log odds ratios. Using a cutoff value of 5, the model achieved an AUC of 0.91, with 80.30% sensitivity and 87.33% specificity in the training cohort. In the validation cohort, the AUC was 0.96 with sensitivity and specificity of 86.33% and 94.23%, respectively. The positive and negative predictive values were 93.64% and 87.50%, respectively. This integrated model reliably identifies male individuals at high risk of ESCC and may serve as a precision screening tool in high-incidence regions.