Abstract 4912: Screening of multiplex gene mutations using cell-free DNA in lung cancer patients

Abstract

Abstract Cell free DNA present in the blood stream shows much potential as a useful cancer maker for early diagnosis and cancer progression monitoring. Especially, analyzing the cell free DNA with Next Generation Sequencing (NGS) technology allows high through put examination of various genes concurrently at a low cost. On average, healthy person's serum contains only about 5ng/ml of cell free DNA, whereas a cancer patient's serum contains up to 1,500ng/ml of cell free DNA. For these reasons, cell free DNA could be a useful cancer marker to further our understanding of the patient's conditions. However, sequencing cell free DNA using NGS platform requires various quality control steps to ensure the quality and the quantity of the cell free DNA extracted and the libraries produced from them. In this study, we examined the viability of using cell free DNA on NGS platforms. First, DNA was extracted and sequencing libraries were prepared using currently available commercial kits. Next, the quality of the libraries prepared was evaluated through whole genome sequencing on MiSeq. Lastly, lung cancer driver mutation was analyzed using TruSight Cancer Content Set and Ion AmpliSeq Cancer hotspot Panel. Two panels were chosen in order to study the viability of capture hybridization method and amplicon method. Citation Format: Nak-Jung Kwon, Jae Sook Sung, Ahreum Seong, Hyunmi Kim, Woo Chung Lee, Yeul Hong Kim, Kap-Seok Yang, Jeong-Sun Seo. Screening of multiplex gene mutations using cell-free DNA in lung cancer patients. [abstract]. In: Proceedings of the 106th Annual Meeting of the American Association for Cancer Research; 2015 Apr 18-22; Philadelphia, PA. Philadelphia (PA): AACR; Cancer Res 2015;75(15 Suppl):Abstract nr 4912. doi:10.1158/1538-7445.AM2015-4912