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Integrative analysis of small cell lung cancer

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.

Click on a Dataset ID in the table below to learn more, and to find out who to contact about access to these data

Dataset ID Description Technology Samples
EGAD00001000703 Illumina Genome Analyzer IIx 29
EGAD00001001431 Illumina HiSeq 2000 15
EGAD00010000526 Affymetrics_SNP_6.0- 63
Publications Citations
Integrative genome analyses identify key somatic driver mutations of small-cell lung cancer.
Nat Genet 44: 2012 1104-1110
Intertumoral Heterogeneity in SCLC Is Influenced by the Cell Type of Origin.
Cancer Discov 8: 2018 1316-1331
Topoisomerase I poison-triggered immune gene activation is markedly reduced in human small-cell lung cancers by impairment of the cGAS/STING pathway.
Br J Cancer 127: 2022 1214-1225
Expression of down-regulated ERV LTR elements associates with immune activation in human small-cell lung cancers.
Mob DNA 14: 2023 2
Non-canonical integrin signaling activates EGFR and RAS-MAPK-ERK signaling in small cell lung cancer.
Theranostics 13: 2023 2384-2407