Article
A Single nucleotide polymorphism in the ALDH2 gene modifies the risk of esophageal squamous cell carcinoma in BRCA2 p.K3326* carriers.
PloS one - 1 Jan 2023
Zamani Neda, Szymiczek Agata, Shakeri Ramin, Poustchi Hossein, Pourshams Akram, Narod Steven, Malekzadeh Reza, Akbari Mohammad R
Abstract excerpt
Esophageal squamous cell carcinoma (ESCC) has a very high incidence rate in northeastern Iran. Our team previously reported the BReast CAncer gene 2 (BRCA2) p.K3326* mutation as a moderately penetrant ESCC susceptibility variant in northern Iran (odds ratio (OR) = 3.64, 95% confidence interval (CI) = 1.74-7.59, P = 0.0003). Recently, it has been reported that aldehydes can induce BRCA2 haploinsufficiency in cells...
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