Ethnic genomic diversity in esophageal squamous cell carcinoma

Table 1 Genetic variants and mutational signatures in ethnically diverse esophageal squamous cell carcinoma populations

Study population	Genetic variants	Mutational signatures	Gene-environment interactions	Clinical implications
East Asian (Chinese)	TP53, ADH1B, ALDH2, PIK3CA, PLCE1	APOBEC, alcohol-related signature	Strong interaction with alcohol and tobacco	High risk due to alcohol metabolism variants, targeted therapies
African American	TP53, EGFR, CHEK2, BRCA2	APOBEC, tobacco-related signature	Tobacco and alcohol significantly influence risk	Poor prognosis linked to EGFR mutations and tobacco use
African (sub-Saharan)	CHEK2, ADH1B, ALDH2	Tobacco-related signatures	Limited data on gene-environment interactions	Need for more genetic studies and tailored interventions
Caucasian	TP53, GSTP1, PIK3CA, EGFR	Alcohol-related mutational signature	Tobacco use and genetic interaction with alcohol	Risk assessment models considering both genetic and lifestyle factors
Kazakh	ADH1B, ALDH2, TP53	APOBEC, alcohol-related signature	Tobacco, alcohol, and dietary habits	Gene-environment modeling crucial for prevention strategies

EGFR: Epidermal growth factor receptor.