Mutational signatures according to the stage of lung adenocarcinoma in Korea = Mutational signatures according to the stage of lung adenocarcinoma in Korea

다국어 초록 (Multilingual Abstract)

Purpose: There are many somatic mutations in lung cancer, and many biological processes that cause mutations in somatic cells leave a mutational signature. The purpose of this study is to identify the mutational signature according to the stage of lung adenocarcinoma in Korea.
Methods: A total of 103 specimens from patients diagnosed with lung adenocarcinoma were obtained and NGS based repeated deep sequencing was performed. The single nucleotide variation detected by the test was converted to maf.file and mutational signatures according to the stage of lung cancer analyzed by applying a computational framework for mutational signature model proposed by Alexandrov et al. The mutational signature nomenclature is that used in the Catalogue of Somatic Mutations in Cancer (COSMIC).
Results: As a result of mutational signature analysis with stage I lung cancer, signature 5 (cosine similarity=0.656, unknown etiology) was the most significant result. With stage II lung cancer, signature 7 (cosine similarity=0.742, UV exposure) was the most significant result and with stage III lung cancer, signature 30 (cosine similarity=0.777, unknown etiology) was the most significant result. In this study, the number of patients with stage IV lung cancer was small and there were no significant results.
Conclusions: The risk factors for lung cancer other than smoking,the exact cause has not been clarified, they are presumed to have left a mutational signature. In addition, the mutational signatures according to the stage of lung adenocarcinoma in Korean patients showed different result.