Biomarkers Of Lung Cancer Based On The Expression Of Genes, Transposons And Repetitive Elements

EUROPEAN RESPIRATORY JOURNAL(2020)

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摘要
Cancer is one of the biggest challenges of humanity, and among them lung cancer stand out due to its mortality. Personalized medicine is one of the biggest therapeutic advances, based on biomarkers that help to filiate and select a treatment. Most biomarkers are based on gene variations, and repetitive sequences and transposons, even as they made the 45% of the human genome, have been mostly ignored, due to the difficulty of its sequencing and analysis. The presented work contributes to the search of biomarkers using data generated from the sequencing of healthy and tumoural tissue of the same person. The samples have been processed with two new bioinformatic workflows to search biomarkers on genes, repetitive sequences and transposons, and to analyze the colocation of gene and transposons. Among the repetitive elements proposed as biomarkers we have found HERVK10D-Int overexpressed in LAC and not in SCLC, and UCON88 overexpressed in SCLC and without expression in LAC, and three (HERVL18-int, AluYg6 y LTR18B) with differential expression in the same direction in both histological cancer types. To found common elements to both types of cancer suggest that their behaviour transcends one particular cancer, so it could be useful to confirm diagnostics. In LAC 16 pairs of nearby gene and transposon in which both are differentially expressed in the same direction have been found, and 36 in SCLC, with three common to both. Three genes with pronostic and diagnostic capacity in LAC are presented (TMC5, CAPN8-2 y MUC1), and three with diagnostic capacity in SCLC (ADYCAP1, BMX y TUBA1A). Thinking on the clinical application, reference genes are proposed, so RT-PCR can be used.
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关键词
Lung cancer - mechanism, Genomics, Lung cancer - diagnosis
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