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      • Poster Session : PS 0461 ; Genetics ; Free Circulating DNA Levels in Individuals with Lung Cancer Risk and Characterization of Copies Number Alterations

        ( Marta Adonis ),( Carolina Tamayo ),( Ulises Urzua ),( Jose Diaz ),( Marco Chahuan ),( Rosana Miranda ),( Alcides Zambrano ),( Monica Campos ),( Pedro Marin ),( Hugo Benitez ),( Lionel Gil ) 대한내과학회 2014 대한내과학회 추계학술대회 Vol.2014 No.1

        Background: Lung cancer (LC) is the leading cause of cancer-related mortality worldwide and in Antofagasta region, and the second cause of cancer mortality in Chile. The high incidence and mortality of LC has been associated to diagnosis in advances stages. Free circulating DNA (DNAfc) in serum or plasma has been described as a promising cancer marker. A high concentration as well as genetic and epigenetic alterations of DNAfc has been associated to various types of cancer. This work has studied the levels of DNAfc in a population with high risk of LC and also to characterize its Copy Number Alterations (CNAs). Methods: Volunteers enrolled in an early detection project (CeTeCancer), were classifi ed as healthy control (C), Pre Neoplastic Lesions (PNL) and Lung Cancer (LC), according to results of Quantitative Automatic Cytology (QAC) in sputum specimen, DR70 tumour marker Autofi uorescence Bronchoscopy (AFB) and Histophatology assay. The amplifi ed ADNfc was co-hybridized against genomic DNA from total blood, using microarray-HGC. Results: LC volunteers showed higher DNAfc levels than C and PNL volunteers. Four recurrent and signifi cant deletions were detected in 2p, 7q, 11q and 17p in LC volunteers. Non signifi cant alterations were detected in PLN. Genes located in segments with CNAs were associated to immune response, xenobiotic metabolism, oxidative phosphorilation, cell proliferation and cell cycle regulation, apoptosis, differentiation and cellular adhesion and migration, all functions relevant to neoplastic progression. Conclusions: fcDNA showed higher levels in LC patients than control volunteers and patients with Pre Neoplastic Lesions (PNL). Many genomic loci identifi ed as signifi - cantly have been associated with the LC and might be consider candidates as genomic markers. This research was supported by INNOVA CORFO.

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