The University of Toledo Translation Journal of Medical Sciences 
Pulmonology Abstract, Department of Medicine Research Symposium UTJMS 2023 May 5; 11(1):e1-e1 

Working To Understand Familial Lung 
Cancer And Its Genetic Underpinnings 
Connor Knight1*, Erin L. Crawford1, Christopher I. Amos1, Joan E. Bailey-Wilson1, 
James C. Willey1

1Division of Pulmonology and Critical Care Medicine, Department of Medicine, The 
University of Toledo, Toledo, OH 43614 

*Corresponding author: Connor.Knight@rockets.utoledo.edu

Published: 05 May 2023 

The primary focus of our research is to identify hereditary genetic variants that may predispose to lung 
cancer. In this study we processed blood and buccal swab samples collected from affected and 
unaffected members of families with statistically significant enrichment for lung cancer. DNA extracted 
will be sequenced and analyzed for variants associated with lung cancer risk. Blood or buccal swab 
samples were collected from individuals within lung cancer families. Samples were stored at -80 °C 
until sample processing. Specimen samples were processed using the Qiagen FlexiGene® DNA Kit or 
Gentra® Puregene® Buccal Cell kit.  Purity was assessed through NanoDrop 2000 Spectrophotometry.  
A260/A280 spectrophotometry readings were obtained for DNA specimens from blood (N=59, 
mean=1.87, standard deviation 0.046) and buccal swabs (N=3, mean=1.94, standard deviation=0.08).  
Mean DNA yield for blood samples was 301 µg and for buccal swabs was 8.86 µg.   The A260/A280 
ratio assessed DNA purity, with a ratio of 1.8-2.0 generally accepted as optimal. Our average sample 
purity fell within this optimal quality range. The DNA yield required for genomic sequencing is 3 µg, so 
for blood specimens we have, on average, one hundred times more yield than is necessary, so excess 
DNA can be stored for future use. Meeting the quantity and quality standards, the DNA samples were 
shipped to the NIH Intramural Sequencing Center (NISC) for PCR-free whole genome sequencing. 
DNA variants identified through sequencing will be studied for association with hereditary lung cancer 
risk. 

https://dx.doi.org/10.46570/utjms.vol11-2023-778 

https://dx.doi.org/10.46570/utjms.vol11-2023-778
mailto:connor.Knight@rockets.utoledo.edu