Molecular fingerprints of nuclear genome and mitochondrial genome for early diagnosis of lung adenocarcinoma.

Abstract in brief

• The study focused on identifying mutations in nuclear and mitochondrial genomes to develop early diagnostic markers for lung adenocarcinoma (LUAD), which is the most common and deadly subtype of lung cancer.
• Researchers analyzed samples from 80 LUAD patients and 13 healthy controls, finding high correlations between mutations in blood cell-free DNA and tumor tissues, and developed a diagnostic model with high accuracy, especially using mitochondrial DNA (mtDNA).
• The findings suggest that detecting mutations in mitochondrial DNA may be more effective for early LUAD diagnosis, and the study successfully created a mutation gene panel that could improve early detection and understanding of the disease’s molecular basis.