High-throughput oncogene mutation profiling in human cancer (original) (raw)

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NOTE: In the version of this article initially published, the name of an author was spelled incorrectly as Laura MacConnaill. The correct spelling is Laura MacConaill. The error has been corrected in the HTML and PDF versions of the article.

References

  1. National Human Genome Research Institute. Cancer Sequencing.http://www.genome.gov/cancersequencing/〉 (2006).
  2. Sjoblom, T. et al. The consensus coding sequences of human breast and colorectal cancers. Science 314, 268–274 (2006).
    Article Google Scholar
  3. National Cancer Institute and National Human Genome Research Institute. The Cancer Genome Atlas. 〈http://cancergenome.nih.gov/index.asp〉 (2006).
  4. Heinrich, M.C. et al. Kinase mutations and imatinib response in patients with metastatic gastrointestinal stromal tumor. J. Clin. Oncol. 21, 4342–4349 (2003).
    Article CAS Google Scholar
  5. Thomas, R.K. et al. Detection of oncogenic mutations in the EGFR gene in lung adenocarcinoma with differential sensitivity to EGFR tyrosine kinase inhibitors. Cold Spring Harb. Symp. Quant. Biol. 70, 73–81 (2005).
    Article CAS Google Scholar
  6. Paez, J.G. et al. EGFR mutations in lung cancer: correlation with clinical response to gefitinib therapy. Science 304, 1497–1500 (2004).
    Article CAS Google Scholar
  7. Pao, W. et al. EGF receptor gene mutations are common in lung cancers from “never smokers” and are associated with sensitivity of tumors to gefitinib and erlotinib. Proc. Natl. Acad. Sci. USA 101, 13306–13311 (2004).
    Article CAS Google Scholar
  8. Lynch, T.J. et al. Activating mutations in the epidermal growth factor receptor underlying responsiveness of non-small-cell lung cancer to gefitinib. N. Engl. J. Med. 350, 2129–2139 (2004).
    CAS Google Scholar
  9. Solit, D.B. et al. BRAF mutation predicts sensitivity to MEK inhibition. Nature 439, 358–362 (2006).
    Article CAS Google Scholar
  10. Thomas, R.K. et al. Sensitive mutation detection in heterogeneous cancer specimens by massively parallel picoliter reactor sequencing. Nat. Med. 12, 852–855 (2006).
    Article CAS Google Scholar
  11. Bansal, A. et al. Association testing by DNA pooling: an effective initial screen. Proc. Natl. Acad. Sci. USA 99, 16871–16874 (2002).
    Article CAS Google Scholar
  12. Werner, M. et al. Large-scale determination of SNP allele frequencies in DNA pools using MALDI-TOF mass spectrometry. Hum. Mutat. 20, 57–64 (2002).
    Article CAS Google Scholar
  13. Kralovics, R. et al. A gain-of-function mutation of JAK2 in myeloproliferative disorders. N. Engl. J. Med. 352, 1779–1790 (2005).
    Article CAS Google Scholar
  14. Levine, R.L. et al. Activating mutation in the tyrosine kinase JAK2 in polycythemia vera, essential thrombocythemia, and myeloid metaplasia with myelofibrosis. Cancer Cell 7, 387–397 (2005).
    Article CAS Google Scholar
  15. James, C. et al. A unique clonal JAK2 mutation leading to constitutive signalling causes polycythaemia vera. Nature 434, 1144–1148 (2005).
    Article CAS Google Scholar
  16. Baxter, E.J. et al. Acquired mutation of the tyrosine kinase JAK2 in human myeloproliferative disorders. Lancet 365, 1054–1061 (2005).
    Article CAS Google Scholar
  17. Chesi, M. et al. Frequent translocation t(4;14)(p16.3;q32.3) in multiple myeloma is associated with increased expression and activating mutations of fibroblast growth factor receptor 3. Nat. Genet. 16, 260–264 (1997).
    Article CAS Google Scholar
  18. Nakahara, M. et al. A novel gain-of-function mutation of c-kit gene in gastrointestinal stromal tumors. Gastroenterology 115, 1090–1095 (1998).
    Article CAS Google Scholar
  19. Heinrich, M.C. et al. Molecular correlates of imatinib resistance in gastrointestinal stromal tumors. J. Clin. Oncol. 24, 4764–4774 (2006).
    Article CAS Google Scholar
  20. Ikediobi, O.N. et al. Mutation analysis of 24 known cancer genes in the NCI-60 cell line set. Mol. Cancer Ther. 5, 2606–2612 (2006).
    Article CAS Google Scholar
  21. Lee, J.C. et al. EGFR activation in glioblastoma through novel missense mutations in the extracellular domain. PLoS Med. 3, e485 (2006).
    Article Google Scholar
  22. Wan, P.T. et al. Mechanism of activation of the RAF-ERK signaling pathway by oncogenic mutations of B-RAF. Cell 116, 855–867 (2004).
    Article CAS Google Scholar
  23. Weinstein, I.B. & Joe, A.K. Mechanisms of disease: oncogene addiction--a rationale for molecular targeting in cancer therapy. Nat. Clin. Pract. Oncol. 8, 448–457 (2006).
    Article Google Scholar
  24. Bamford, S. et al. The COSMIC (Catalogue of Somatic Mutations in Cancer) database and website. Br. J. Cancer 91, 355–358 (2004).
    Article CAS Google Scholar
  25. Jiang, J. et al. Identification and characterization of a novel activating mutation of the FLT3 tyrosine kinase in AML. Blood (2004).
  26. Naoki, K., Chen, T.H., Richards, W.G., Sugarbaker, D.J. & Meyerson, M. Missense mutations of the BRAF gene in human lung adenocarcinoma. Cancer Res. 62, 7001–7003 (2002).
    CAS PubMed Google Scholar
  27. Paez, J.G. et al. Genome coverage and sequence fidelity of phi29 polymerase-based multiple strand displacement whole genome amplification. Nucleic Acids Res. 32, e71 (2004).
    Article Google Scholar

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Acknowledgements

We thank E. Lander and G. Getz for comments and advice. R.K.T. is a Mildred-Scheel fellow of the Deutsche Krebshilfe. R.K.T. is supported by the International Association for the Study of Lung Cancer (IASLC). R.M.D. is supported by the Swiss national science foundation (no: 3100A0-103671/1). A.G and J.M. are supported by the National Cancer Institute through SPORE grant P50CA70907. G.D.D. is supported by the Virginia and Daniel K. Ludwig Trust for Cancer Research, the Quick Family Fund for Cancer Research and the Ronald O. Perelman Fund for Cancer Research at Dana-Farber. I.K.M. and P.S.M. are supported by Accelerate Brain Tumor Cure. I.K.M., L.M.L, T.F.C., and P.S.M. are supported by the Henry E. Singleton Brain Tumor Program. I.K.M., L.M.L, T.F.C., S.F.N., M.M., W.R.S. and P.S.M. are supported by the Brain Tumor Funders' Collaborative. M.M. and L.A.G. are supported by a grant from Genentech, Inc. M.M. is supported by the American Cancer Society. L.A.G is supported by the National Cancer Institute, the Prostate Cancer Foundation, the Burroughs-Wellcome Fund, the Robert Wood Johnson Foundation and the Novartis Institute for Biomedical Research.

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Author notes

  1. Roman K Thomas, Alissa C Baker and Ralph M DeBiasi: These authors contributed equally to this work.

Authors and Affiliations

  1. Department of Medical Oncology, Dana-Farber Cancer Institute, Harvard Medical School, 44 Binney Street, Boston, 02115, Massachusetts, USA
    Roman K Thomas, Alissa C Baker, Ralph M DeBiasi, Wendy Winckler, Thomas LaFramboise, William M Lin, Meng Wang, Whei Feng, Laura E MacConaill, Jeffrey C Lee, Rick Nicoletti, Charlie Hatton, Kwok-Kin Wong, Rameen Beroukhim, Jordi Barretina, Amit Dutt, Caroline Emery, Heidi Greulich, Kinjal Shah, F Stephen Hodi, Glenn Dranoff, Massimo Loda, Jonathan Fletcher, Sabina Signoretti, Kenneth C Anderson, George D Demetri, William R Sellers, Matthew Meyerson & Levi A Garraway
  2. The Broad Institute of M.I.T. and Harvard, 7 Cambridge Center, Cambridge, 02142, Massachusetts, USA
    Roman K Thomas, Ralph M DeBiasi, Wendy Winckler, Thomas LaFramboise, William M Lin, Meng Wang, Whei Feng, Laura E MacConaill, Jeffrey C Lee, Rick Nicoletti, Charlie Hatton, Mary Goyette, Liuda Ziaugra, Stacey Gabriel, Rameen Beroukhim, Jordi Barretina, Amit Dutt, Heidi Greulich, Kinjal Shah, Matthew Meyerson & Levi A Garraway
  3. Hamon Center for Therapeutic Oncology Research, University of Texas Southwestern Medical Center at Dallas, 6000 Harry Hines Boulevard, Dallas, 75390-8593, Texas, USA
    Luc Girard, Kuntal Majmudar, Michael Peyton, Adi Gazdar & John Minna
  4. Department of Surgery 2, Nagoya City University Medical School, Nagoya, 467-8601, Japan
    Hidefumi Sasaki
  5. Department of Pathology, University of Texas Southwestern Medical Center, Dallas, 75390, Texas, USA
    Adi Gazdar
  6. Departments of Internal Medicine and Pharmacology, University of Texas Southwestern Medical Center, Dallas, 75390, Texas, USA
    John Minna
  7. Department of Pediatric Oncology, Dana-Farber Cancer Institute, Harvard Medical School, Boston, 02115, Massachusetts, USA
    Scott A Armstrong
  8. Department of Molecular and Medical Pharmacology and Medicine, David Geffen School of Medicine at the University of California, Los Angeles, 90095-1732, Los Angeles, California, USA
    Ingo K Mellinghoff
  9. Department of Pathology, David Geffen School of Medicine at the University of California, Los Angeles, Los Angeles, 90095-1732, California, USA
    Paul S Mischel
  10. Department of Neurology, David Geffen School of Medicine at the University of California, Los Angeles, Los Angeles, 90095-1732, California, USA
    Tim F Cloughesy
  11. Department of Human Genetics, David Geffen School of Medicine at the University of California, Los Angeles, Los Angeles, 90095-1732, California, USA
    Stan F Nelson
  12. Department of Neurosurgery, David Geffen School of Medicine at the University of California, Los Angeles, Los Angeles, 90095-1732, California, USA
    Linda M Liau
  13. Department of Pathology, Brigham and Women's Hospital, Harvard Medical School, 75 Francis Street, Boston, 02115, Massachusetts, USA
    Kirsten Mertz, Mark A Rubin, Massimo Loda, Jonathan Fletcher & Sabina Signoretti
  14. Institute of Surgical Pathology, University Hospital Zürich, Zürich, 8091, Switzerland
    Kirsten Mertz & Holger Moch
  15. Department of Urology, Northwestern University Feinberg School of Medicine, Chicago, 60637, Illinois, USA
    William Catalona
  16. Genetics Branch, Center for Cancer Research, National Cancer Institute and National Naval Medical Center, Bethesda, Maryland, USA
    Frederic Kaye
  17. Ludwig Center for Cancer Research at Dana-Farber Cancer Institute, Boston, 02115, Massachusetts, USA
    George D Demetri
  18. Department of Dermatology, University Hospital Zürich, Zürich, 8091, Switzerland
    Reinhard Dummer
  19. Division of Immunology, Department of Dermatology, Allergy and Infectious Diseases, Medical University of Vienna, and Center of Molecular Medicine, Austrian Academy of Sciences, Wahringer Gurtel 18-20, Vienna, A-1090, Austria
    Stephan Wagner
  20. The Wistar Institute, 3601 Spruce Street, Philadelphia, 19104, Pennsylvania, USA
    Meenhard Herlyn
  21. Novartis Institutes for BioMedical Research, 250 Massachusetts Avenue, Cambridge, 02139, Massachusetts, USA
    William R Sellers
  22. Department of Pathology, Harvard Medical School, 77 Avenue Louis Pasteur, Boston, 02115, Massachusetts, USA
    Matthew Meyerson
  23. Center for Cancer Genome Discovery, Dana-Farber Cancer Institute, Harvard Medical School, 44 Binney Street, Boston, 02115, Massachusetts, USA
    Matthew Meyerson & Levi A Garraway
  24. Melanoma Program in Medical Oncology, Dana-Farber Cancer Institute, Harvard Medical School, 44 Binney Street, Boston, 02115, Massachusetts, USA
    Levi A Garraway
  25. Max Planck Institute for Neurological Research with Klaus Joachim Zülch Laboratories of the Max Planck Society and the Medical Faculty of the University of Cologne, Gleueler Str. 50, 50931, Cologne, Germany
    Roman K Thomas
  26. Center for Integrated Oncology and Department I for Internal Medicine, University of Cologne, Cologne, 50931, Germany
    Roman K Thomas & Thomas Zander

Authors

  1. Roman K Thomas
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  2. Alissa C Baker
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  3. Ralph M DeBiasi
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  4. Wendy Winckler
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  5. Thomas LaFramboise
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  6. William M Lin
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  7. Meng Wang
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  8. Whei Feng
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  9. Thomas Zander
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  10. Laura E MacConaill
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  11. Jeffrey C Lee
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  12. Rick Nicoletti
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  13. Charlie Hatton
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  14. Mary Goyette
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  15. Luc Girard
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  16. Kuntal Majmudar
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  17. Liuda Ziaugra
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  18. Kwok-Kin Wong
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  19. Stacey Gabriel
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  20. Rameen Beroukhim
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  21. Michael Peyton
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  22. Jordi Barretina
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  23. Amit Dutt
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  24. Caroline Emery
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  25. Heidi Greulich
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  26. Kinjal Shah
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  27. Hidefumi Sasaki
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  28. Adi Gazdar
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  29. John Minna
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  30. Scott A Armstrong
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  31. Ingo K Mellinghoff
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  32. F Stephen Hodi
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  33. Glenn Dranoff
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  34. Paul S Mischel
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  35. Tim F Cloughesy
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  36. Stan F Nelson
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  37. Linda M Liau
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  38. Kirsten Mertz
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  39. Mark A Rubin
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  40. Holger Moch
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  41. Massimo Loda
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  42. William Catalona
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  43. Jonathan Fletcher
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  44. Sabina Signoretti
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  45. Frederic Kaye
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  46. Kenneth C Anderson
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  47. George D Demetri
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  48. Reinhard Dummer
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  49. Stephan Wagner
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  50. Meenhard Herlyn
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  51. William R Sellers
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  52. Matthew Meyerson
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  53. Levi A Garraway
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Corresponding author

Correspondence toLevi A Garraway.

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The authors declare no competing financial interests.

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Thomas, R., Baker, A., DeBiasi, R. et al. High-throughput oncogene mutation profiling in human cancer.Nat Genet 39, 347–351 (2007). https://doi.org/10.1038/ng1975

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