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Characterization of squamous cell lung cancers from Appalachian Kentucky

Cancer Epidemiology, Biomarkers & Prevention Jan 17, 2019

Liu J, et al. - In this study, genomic alterations in lung squamous cell carcinoma (SQCC) from Appalachian Kentucky (AppKY) were characterized for the first time. Researchers compared somatic genomic alterations between AppKY (where death from lung cancer is exceptionally high) and the Cancer Genome Atlas (TCGA) SQCC cohorts. They performed whole-exome sequencing on tumor and normal DNA samples from 51 lung SQCC subjects from AppKY. Findings revealed an increased percentage of IDH1 and PCMTD1 mutations in SQCC arising in the AppKY residents vs TCGA, with population-specific implications for the personalized treatment of this disease.
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