Volume 206, Issue 3, Pages (March 2013)

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Volume 206, Issue 3, Pages 73-80 (March 2013) Utility of serum DNA and pyrosequencing for the detection of EGFR mutations in non- small cell lung cancer Hakan Akca, Aydın Demiray, Arzu Yaren, Ferda Bir, Aylin Koseler, Reika Iwakawa, Gulseren Bagci, Jun Yokota Cancer Genetics Volume 206, Issue 3, Pages 73-80 (March 2013) DOI: 10.1016/j.cancergen.2013.01.005 Copyright © 2013 Terms and Conditions

Figure 1 Representative results of pyrosequencing and dideoxy sequencing demonstrating the presence of EGFR mutations in serum DNA. Mutations detected by pyrosequencing were also detected by dideoxy sequencing of the same samples. Wild type sequence of exon 19 (A), 2239-2248delTTAAGAGAAGinsC detected in exon 19 (B), 2235-2249delGGAATTAAGAGAAGC detected in exon 19 (C), wild type sequence of exon 21 (D), and 2573T>G detected in exon 21 (E). Abbreviations: del, deletion; Mut., mutation; WT, wild type; *: peak diminished in the mutated samples; ◊: peak increased in the mutated samples. Cancer Genetics 2013 206, 73-80DOI: (10.1016/j.cancergen.2013.01.005) Copyright © 2013 Terms and Conditions

Figure 2 Mutation detection performance of both dideoxy sequencing and pyrosequencing. Genomic DNA isolated from PC9 NSCLC cells, which carry the delE746-A750 mutation, and DNA samples serial diluted from 1,000 to 1 ng/mL and subsequently analyzed by dideoxy and pyrosequencing. (A) Both pyrosequencing and dideoxysequencing detected a delE746-A750 mutation in 1,000 ng/mL of DNA sample concentration. (B) Dideoxy sequencing gives a false wild type result, but pyrosequencing detected a delE746-A750 mutation in 100 ng/mL of DNA concentration. Dideoxysequencing also did not give results in 10 ng/mL (C) and 1 ng/mL (D) DNA concentration, but pyrosequencing detected a delE746-A750 mutation in the same DNA concentrations. Cancer Genetics 2013 206, 73-80DOI: (10.1016/j.cancergen.2013.01.005) Copyright © 2013 Terms and Conditions