A small-cell lung cancer genome with complex signatures of tobacco exposure
作者： Laura J. Mudie , Calli Latimer , Sarah Edkins , Lucy Stebbings , Lina Chen
DOI: 10.1038/NATURE08629
关键词: Genetics 、 DNA Mutational Analysis 、 DNA repair 、 Cancer 、 Massive parallel sequencing 、 Biology 、 Human genome 、 Mutation 、 Germline mutation 、 Tandem exon duplication
摘要: Cancer is driven by mutation. Worldwide, tobacco smoking the principal lifestyle exposure that causes cancer, exerting carcinogenicity through >60 chemicals bind and mutate DNA. Using massively parallel sequencing technology, we sequenced a small-cell lung cancer cell line, NCI-H209, to explore mutational burden associated with smoking. A total of 22,910 somatic substitutions were identified, including 134 in coding exons. Multiple mutation signatures testify cocktail carcinogens smoke their proclivities for particular bases surrounding sequence context. Effects transcription-coupled repair second, more general, expression-linked pathway evident. We identified tandem duplication duplicates exons 3-8 CHD7 frame, another two lines carrying PVT1-CHD7 fusion genes, indicating may be recurrently rearranged this disease. These findings illustrate potential next-generation provide unprecedented insights into processes, cellular pathways gene networks cancer.
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