The mutation spectrum revealed by paired genome sequences from a lung cancer patient (original) (raw)

Accession codes

Primary accessions

GenBank/EMBL/DDBJ

Gene Expression Omnibus

Data deposits

Sequence data has been submitted to the NCBI Short Read Archive under accession number SRA012097. Microarray data has been submitted to the NCBI Gene Expression Omnibus under accession number GSE20585.

References

  1. Parkin, D. M., Bray, F., Ferlay, J. & Pisani, P. Global cancer statistics, 2002. CA Cancer J. Clin. 55, 74–108 (2005)
    Article Google Scholar
  2. Herbst, R. S., Heymach, J. V. & Lippman, S. M. Lung cancer. N. Engl. J. Med. 359, 1367–1380 (2008)
    Article CAS Google Scholar
  3. Campbell, P. J. et al. Identification of somatically acquired rearrangements in cancer using genome-wide massively parallel paired-end sequencing. Nature Genet. 40, 722–729 (2008)
    Article CAS Google Scholar
  4. Davies, H. et al. Somatic mutations of the protein kinase gene family in human lung cancer. Cancer Res. 65, 7591–7595 (2005)
    Article CAS Google Scholar
  5. Ding, L. et al. Somatic mutations affect key pathways in lung adenocarcinoma. Nature 455, 1069–1075 (2008)
    Article ADS CAS Google Scholar
  6. Greenman, C. et al. Patterns of somatic mutation in human cancer genomes. Nature 446, 153–158 (2007)
    Article ADS CAS Google Scholar
  7. Stratton, M. R., Campbell, P. J. & Futreal, P. A. The cancer genome. Nature 458, 719–724 (2009)
    Article ADS CAS Google Scholar
  8. Weir, B. A. et al. Characterizing the cancer genome in lung adenocarcinoma. Nature 450, 893–898 (2007)
    Article ADS CAS Google Scholar
  9. Mardis, E. R. et al. Recurring mutations found by sequencing an acute myeloid leukemia genome. N. Engl. J. Med. 361, 1058–1066 (2009)
    Article CAS Google Scholar
  10. Ley, T. J. et al. DNA sequencing of a cytogenetically normal acute myeloid leukaemia genome. Nature 456, 66–72 (2008)
    Article ADS CAS Google Scholar
  11. Shah, S. P. et al. Mutational evolution in a lobular breast tumour profiled at single nucleotide resolution. Nature 461, 809–813 (2009)
    Article ADS CAS Google Scholar
  12. Pleasance, E. D. et al. A comprehensive catalogue of somatic mutations from a human cancer genome. Nature 463, 191–196 (2009)
    Article ADS Google Scholar
  13. Pleasance, E. D. et al. A small-cell lung cancer genome with complex signatures of tobacco exposure. Nature 463, 184–190 (2010)
    Article ADS CAS Google Scholar
  14. Hecht, S. S. Tobacco smoke carcinogens and lung cancer. J. Natl Cancer Inst. 91, 1194–1210 (1999)
    Article CAS Google Scholar
  15. Chu, P. G. & Weiss, L. M. Expression of cytokeratin 5/6 in epithelial neoplasms: an immunohistochemical study of 509 cases. Mod. Pathol. 15, 6–10 (2002)
    Article Google Scholar
  16. Tan, D. et al. Thyroid transcription factor-1 expression prevalence and its clinical implications in non-small cell lung cancer: a high-throughput tissue microarray and immunohistochemistry study. Hum. Pathol. 34, 597–604 (2003)
    Article CAS Google Scholar
  17. Wistuba, I. I. & Gazdar, A. F. Lung cancer preneoplasia. Annu. Rev. Pathol. 1, 331–348 (2006)
    Article CAS Google Scholar
  18. Drmanac, R. et al. Human genome sequencing using unchained base reads on self-assembling DNA nanoarrays. Science 327, 78–81 (2010)
    Article ADS CAS Google Scholar
  19. Forbes, S. A. et al. The catalogue of somatic mutations in cancer (COSMIC). Curr. Protoc. Hum. Genet. 10.1002/0471142905.hg1011s57 (2008)
  20. Stenson, P. D. et al. The human gene mutation database: 2008 update. Genome Med. 1, 13 (2009)
    Article Google Scholar
  21. Hicks, J. et al. Novel patterns of genome rearrangement and their association with survival in breast cancer. Genome Res. 16, 1465–1479 (2006)
    Article CAS Google Scholar
  22. Beroukhim, R. et al. Assessing the significance of chromosomal aberrations in cancer: methodology and application to glioma. Proc. Natl Acad. Sci. USA 104, 20007–20012 (2007)
    Article ADS CAS Google Scholar
  23. Bignell, G. R. et al. Architectures of somatic genomic rearrangement in human cancer amplicons at sequence-level resolution. Genome Res. 17, 1296–1303 (2007)
    Article CAS Google Scholar
  24. Soda, M. et al. Identification of the transforming EML4_–_ALK fusion gene in non-small-cell lung cancer. Nature 448, 561–566 (2007)
    Article ADS CAS Google Scholar
  25. Lin, E. et al. Exon array profiling detects EML4_–_ALK fusion in breast, colorectal, and non-small cell lung cancers. Mol. Cancer Res. 7, 1466–1476 (2009)
    Article CAS Google Scholar
  26. Rowley, J. D. A new consistent chromosomal abnormality in chronic myelogenous leukaemia identified by quinacrine fluorescence and Giemsa staining. Nature 243, 290–293 (1973)
    Article ADS CAS Google Scholar
  27. Tomlins, S. A. et al. Recurrent fusion of TMPRSS2 and ETS transcription factor genes in prostate cancer. Science 310, 644–648 (2005)
    Article ADS CAS Google Scholar
  28. Krzywinski, M. et al. Circos: an information aesthetic for comparative genomics. Genome Res. 19, 1639–1645 (2009)
    Article CAS Google Scholar
  29. Dhillon, A. S., Hagan, S., Rath, O. & Kolch, W. MAP kinase signalling pathways in cancer. Oncogene 26, 3279–3290 (2007)
    Article CAS Google Scholar

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Acknowledgements

We thank T. Wu for critical reading of manuscript, C. Santos for sample handling, M. Vasser and the DNA Synthesis Group for oligonucleotide synthesis, J. Turcotte and G. Cavet for coordination, G. Nilsen for data submission, J. Fitzgerald and A. Baucom for data storage, J. Lee for laboratory support, A. Bruce for graphical assistance, and T. Bhangale, S. Jhunhunwala and A. Halpern for discussion.

Author information

Authors and Affiliations

  1. Department of Bioinformatics and Computational Biology, Genentech Inc., South San Francisco, California 94080, USA,
    William Lee, Zhaoshi Jiang, Jinfeng Liu, Peter M. Haverty, Peng Yue, Yan Zhang, Colin Watanabe, Robert Gentleman & Zemin Zhang
  2. Department of Molecular Biology, Genentech Inc., South San Francisco, California 94080, USA,
    Yinghui Guan, Jeremy Stinson, Deepali Bhatt, Connie Ha, Frederic J. de Sauvage, Zora Modrusan & Somasekar Seshagiri
  3. Complete Genomics Inc., Mountain View, California 94043, USA ,
    Krishna P. Pant, Michael I. Kennemer, Igor Nazarenko, Andrew B. Sparks, Dennis G. Ballinger & Radoje Drmanac
  4. Department of Pathology, Genentech Inc., South San Francisco, California 94080, USA,
    Stephanie Johnson & Howard Stern
  5. Department of Oncology Diagnostics, Genentech Inc., South San Francisco, California 94080, USA,
    Sankar Mohan, David S. Shames & Ajay Pandita

Authors

  1. William Lee
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  2. Zhaoshi Jiang
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  3. Jinfeng Liu
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  4. Peter M. Haverty
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  5. Yinghui Guan
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  6. Jeremy Stinson
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  7. Peng Yue
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  8. Yan Zhang
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  9. Krishna P. Pant
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  10. Deepali Bhatt
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  11. Connie Ha
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  12. Stephanie Johnson
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  13. Michael I. Kennemer
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  14. Sankar Mohan
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  15. Igor Nazarenko
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  16. Colin Watanabe
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  17. Andrew B. Sparks
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  18. David S. Shames
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  19. Robert Gentleman
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  20. Frederic J. de Sauvage
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  21. Howard Stern
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  22. Ajay Pandita
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  23. Dennis G. Ballinger
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  24. Radoje Drmanac
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  25. Zora Modrusan
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  26. Somasekar Seshagiri
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  27. Zemin Zhang
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Contributions

W.L., project coordination, SNV and overall data analysis and preparation of manuscript; Z.J., structural variation analysis and preparation of manuscript; J.L., mutation pattern and trend analysis, loss of heterozygosity analysis, expression analysis and preparation of manuscript; P.M.H., copy number/loss of heterozygosity analysis, pathway analysis, expression analysis and preparation of manuscript; P.Y., mutation analysis and preparation of manuscript; Y.G. and Z.M., PCR validation of structural variations; J.S., D.B. and S.S., MassArray mutation validation; Y.Z., bioinformatic prediction of mutations and data processing; K.P.P., M.I.K., I.N. and A.B.S., DNA nanoball preparation and sequencing, base calling, quality control and structural variation mapping; C.H. and Z.M., microarray data production; S.J. and H.S., sample handling and pathology analysis; C.W., structural variation breakpoint mapping; D.S.S., pathway analysis and data interpretation; R.G., manuscript critiques and statistical analysis; F.J.d.S., project coordination and manuscript commenting; A.P. and S.M., FISH analysis; R.D. and D.G.B., project coordination, data interpretation and manuscript commenting; Z.Z., project design, data interpretation and preparation of manuscript.

Corresponding author

Correspondence toZemin Zhang.

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Competing interests

Authors are employees of either Genentech Inc. or Complete Genomics Inc. Employees of Complete Genomics have stock options in the company.

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Supplementary Information

This file contains Supplementary Sections S1-S10, Supplementary References, legends for Supplementary Tables 1-7 and Supplementary Figures 1-17 with legends. (PDF 4981 kb)

Supplementary Tables

This file contains Supplementary Tables 1 – 7, including column descriptions. See Supplementary Information file for legends. (XLS 11059 kb)

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Lee, W., Jiang, Z., Liu, J. et al. The mutation spectrum revealed by paired genome sequences from a lung cancer patient.Nature 465, 473–477 (2010). https://doi.org/10.1038/nature09004

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