Somatic mutation variant analysis in rural, resectable non‐small cell lung carcinoma patients

Jonathan B. Mitchem*, Amanda Miller, Yariswamy Manjunath, Mouadh Barbirou, Murugesan Raju, Yuanyuan Shen, Guangfu Li, Diego M. Avella, Aadel A. Chaudhuri, Chi Ren Shyu, Wesley C. Warren, Peter J. Tonellato, Jussuf T. Kaifi

*Corresponding author for this work

Research output: Contribution to journalArticlepeer-review


Rural non-small cell lung cancer (NSCLC) patients do worse, largely related to lack of access to care. In this study, the mutational characteristics and potential for targeted therapy in rural, resectable NSCLC patients using whole exome sequencing (WES) were analyzed. WES was performed on tumor-adjacent normal pairs from rural patients undergoing resection for NSCLC. Sequencing alignment, variant-calling, annotation, and tumor mutational burden (TMB) calculations were performed using standard methods. cBioportal and OncoKB were used for comparisons of mutational frequencies and actionable targets. Thirty-four NSCLC patients underwent WES after surgical resection. The gene most frequently containing somatic variants was TP53. The median number of somatic variants was 188 (Range 11–1056), and median TMB was 3.30 (0.33–18.56) nonsynonymous mutations per Mb. Tumor stage and survival were not associated with number of variants, TMB or TP53 mutational status. Significant concordance among the most common mutations when cross-referenced to cBioportal (R = 0.78, p < 0.0001) was observed. 24% of patients had variants in actionable genes based on OncoKB annotation. In summary, we demonstrate baseline mutational frequency and establish foundations for targeted adjuvant trials in rural NSCLC patients with specific differences. Future studies must ensure to include rural patients to improve NSCLC patient outcomes.

Original languageEnglish (US)
Pages (from-to)75-82
Number of pages8
JournalCancer Genetics
StatePublished - Nov 2022


  • Non-small lung cancer
  • Precision medicine
  • Rural
  • Targeted therapy
  • Whole exome sequencing

ASJC Scopus subject areas

  • Molecular Biology
  • Genetics
  • Cancer Research


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