Integrative analysis of small cell lung cancer

Study ID Alternative Stable ID Type
EGAS00001000299 Other

Study Description

Small-cell lung cancer (SCLC) is an aggressive lung tumor subtype. We conducted integrated analysis of genome sequencing, transcriptome, and copy number analysis and found an extremely high mutation rate of 7.4±1 protein-changing mutations per million basepairs. Evidence for inactivation of TP53 and RB1 was found in all sequenced cases. Furthermore, we identified recurrent mutations in CREBBP, EP300, and MLL, observed mutations in PTEN, in SLIT2, and EPHA7, as well as focal amplifications of the FGFR1 locus. As a major feature of SCLC we found mutation in histone modifying genes, observed genome alterations that are therapeutically tractable, and provide a framework for identifying biologically relevant genes in the context of a high mutation rate. Peifer et al., 2012, Nature Genetics.

Study Datasets 3 datasets.

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Dataset ID Description Technology Samples
SCLC - Whole genome sequencing data Publication Peifer et al., 2012, Nature Genetics
Illumina Genome Analyzer IIx 29
SCLC - RNA sequencing data Publication Peifer et al., 2012, Nature Genetics
Illumina HiSeq 2000 15
SNP 6.0 arrays of small cell lung cancer
Affymetrics_SNP_6.0- 63

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