2017
DOI: 10.18632/oncotarget.16276
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Clinical framework for next generation sequencing based analysis of treatment predictive mutations and multiplexed gene fusion detection in non-small cell lung cancer

Abstract: Precision medicine requires accurate multi-gene clinical diagnostics. We describe the implementation of an Illumina TruSight Tumor (TST) clinical NGS diagnostic framework and parallel validation of a NanoString RNA-based ALK, RET, and ROS1 gene fusion assay for combined analysis of treatment predictive alterations in non-small cell lung cancer (NSCLC) in a regional healthcare region of Sweden (Scandinavia). The TST panel was clinically validated in 81 tumors (99% hotspot mutation concordance), after which 533 … Show more

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Cited by 41 publications
(54 citation statements)
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References 39 publications
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“…TruSightTumor 26-gene panel which is an exon-focused panel, performed as described previously [12]. 77/157 tumor specimens harbored at least one mutation in either of the EGFR, BRAF or KRAS genes and 58 tumors were included in the study.…”
Section: Mutation Analysismentioning
confidence: 99%
“…TruSightTumor 26-gene panel which is an exon-focused panel, performed as described previously [12]. 77/157 tumor specimens harbored at least one mutation in either of the EGFR, BRAF or KRAS genes and 58 tumors were included in the study.…”
Section: Mutation Analysismentioning
confidence: 99%
“…To support this, an infrastructure for blood and tumour tissue collection and storage was established at all major hospitals in southern Sweden. This infrastructure was not limited to breast cancer research, and has also been implemented for other cancer diagnoses such as lung cancer. The decision and support of the regional governing body were instrumental in implementation of the same routines across a large geographical area, encompassing seven major hospitals and covering a population of 1.8 million ( Fig .…”
Section: Methodsmentioning
confidence: 99%
“…With the introduction of NGS to molecular genetics and molecular diagnostics by allowing formalin-fixed paraffin embedded (FFPE) tissues to be screened, there are new efficiency and time duration options available. This technology is being introduced at new laboratories requiring accurate and timely results which guide patient therapy decisions [20][21][22][55][56][57][58] . NGS for SNVs, INDELs and CNVs detection is based on DNA sequencing, in contrast to RNA-seq developed mainly for detection of gene fusions.…”
Section: Next-generation Sequencingmentioning
confidence: 99%