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Oral Squamous Cell Carcinoma Mutational Profile in Taiwanese Population

Oral squamous cell carcinoma (OSCC) is a major oral cancer subtype that is the fourth most common cancer affecting Taiwanese men. Despite known risk behaviors such as cigarette smoking, alcohol drinking, and betel nut chewing often indulged by Taiwanese men, the genetic contribution to the incidence or progression of OSCC has yet been elucidated in the Taiwanese population.

A recent study at Chang Gung University in Taiwan, in collaboration with CPTAC researchers, identified the cytidine deaminase APOBEC mutational profile, which relates to a APOBEC3B (A3B)-deletion germline polymorphism in Taiwanese OSCC. The investigators applied comprehensive exomic and transcriptomic analyses to 50 Taiwanese OSCC patients (OSCC-Taiwan) to profile OSCC mutations and further evaluated findings in a larger cohort of samples with complete clinical outcome information.

The article notes the first report of A3B-deletion polymorphisms in the Taiwanese population that is frequent emphasizing ethnicity in the genetic basis of the disease. The findings indicate that the A3B-deletion genotype is strongly associated with APOBEC3A (A3A) expression and clinical outcome. These findings allowed researchers to compile a comprehensive mutational landscape for OSCC-Taiwan, identify novel associated mutations and alterations, provided insights into altered gene expression in OSCC, and suggest a novel biomarker that may prove useful for precision medicine. Therefore, understanding the genetic attributes that mediate Taiwanese OSCC may impact clinical prognostic outcomes.

The study is published online in Nature Communications.

To access data sets related to this study, visit the CPTAC Data Portal – click here.