Drs. Shu Xia and others recently determined that early stage lung cancer can be detected in patients, using noninvasive, blood-based genomic and genetic assays which sensitively distinguish early stage disease when combined with other existing screening strategies, including low-dose CT scanning.

To evaluate copy number variations (CNV) and identify potential mutations, they performed low-pass whole-genome sequencing and targeted sequencing of 50 cancer genes. The NEXTflex™ Cell Free DNA-Seq Kit was used to construct libraries from cfDNAs and tumor tissue DNAs isolated from lung adenocarcinoma patients, and from cfDNAs isolated from normal controls for low-pass whole-genome Illumina sequencing. Targeted sequencing was performed using the Ion AmpliSeq™ Cancer Hotspot Panel V2.

To accurately reflect the tumor-associated genomic abnormality burden in plasma, Xia et al. developed a new scoring algorithm, plasma genomic abnormality (PGA) score, by summarizing absolute log2 ratios in most variable genomic regions. Digital PCR and allele-specific PCR was performed to validate mutations detected by targeted sequencing.

Read the entire publication here: http://www.sciencedirect.com/science/article/pii/S0169500215300088

Xia, S. et al. (2015) Genomic variations in plasma cell free DNA differentiate early stage lung cancers from normal controls. Lung Cancer. doi: 10.1016/j.lungcan.2015.07.002.