Characterization of Squamous Cell Lung Cancers from Appalachian Kentucky

This is a pilot study of squamous cell lung cancer and matched normal tissue pairs collected (convenience sample) from patients from Central Appalachia, in Southeastern Kentucky. This study performed whole exome sequencing on tumor and matched normal DNA samples from 51 lung squamous cell carcinoma (SQCC) subjects from Appalachian Kentucky (AppKY). Somatic genomic alteration profiles were compared between the AppKY and TCGA SQCC cohorts. We found that IDH1 and PCMTD1 had higher mutation rates in AppKY versus TCGA. These findings suggest population differences in the genetics of lung SQCC between AppKY and US populations that have implications for personalized treatment for this disease. ]]> 51 cases of Lung Squamous Cell Carcinoma from the Appalachian Kentucky region were selected. This study utilized collected samples from adult patients who elected to donate tissue to the Markey Cancer Center Tissue Bank maintained by the Biospecimen and Tissue Procurement Shared Resource Facility (SRF) and de-identified annotated data from the Cancer Research Informatics SRF and the UK Biomedical Informatics Platform. All subjects had previously given consent for the use of their tissues and information for research. Subjects without matched normal tissues, or missing epidemiologic information were not included in this study. All subjects were required to have their residence in Appalachian Kentucky. Adults of all races and gender were included in this study.]]>