High-resolution genomic profiles of human lung cancer Academic Article uri icon


MeSH Major

  • Carcinoma, Non-Small-Cell Lung
  • Gene Expression Regulation, Neoplastic
  • Genome, Human
  • Lung Neoplasms
  • Mutation


  • Lung cancer is the leading cause of cancer mortality worldwide, yet there exists a limited view of the genetic lesions driving this disease. In this study, an integrated high-resolution survey of regional amplifications and deletions, coupled with gene-expression profiling of non-small-cell lung cancer subtypes, adenocarcinoma and squamous-cell carcinoma (SCC), identified 93 focal copy-number alterations, of which 21 span <0.5 megabases and contain a median of five genes. Whereas all known lung cancer genes/loci are contained in the dataset, most of these recurrent copy-number alterations are previously uncharacterized and include high-amplitude amplifications and homozygous deletions. Notably, despite their distinct histopathological phenotypes, adenocarcinoma and SCC genomic profiles showed a nearly complete overlap, with only one clear SCC-specific amplicon. Among the few genes residing within this amplicon and showing consistent overexpression in SCC is p63, a known regulator of squamous-cell differentiation. Furthermore, intersection with the published pancreatic cancer comparative genomic hybridization dataset yielded, among others, two focal amplicons on 8p12 and 20q11 common to both cancer types. Integrated DNA-RNA analyses identified WHSC1L1 and TPX2 as two candidates likely targeted for amplification in both pancreatic ductal adenocarcinoma and non-small-cell lung cancer.

publication date

  • July 5, 2005



  • Academic Article



  • eng

PubMed Central ID

  • PMC1160520

Digital Object Identifier (DOI)

  • 10.1073/pnas.0504126102

PubMed ID

  • 15983384

Additional Document Info

start page

  • 9625

end page

  • 30


  • 102


  • 27