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Review article: Biomedical intelligence

Vol. 142 No. 2526 (2012)

Application of personalised medicine to solid tumours: opportunities and challenges

  • Christian Ruiz
  • Markus Tolnay
  • Lukas Bubendorf
DOI
https://doi.org/10.4414/smw.2012.13587
Cite this as:
Swiss Med Wkly. 2012;142:w13587
Published
17.06.2012

Abstract

Personalised medicine is an emerging model that will revolutionise our current healthcare system. In the last decade, several genomic aberrations were discovered that are now used as predictive markers for treatment with targeted therapeutics. The technological advances in the last few years, such as the development of high resolution DNA microarrays or second generation sequencers, have led to a dramatic increase in the number of ongoing genomic profiling studies. These studies, in turn, are leading to an enormous number of detected genomic aberrations whose biological interpretation is still pending. This review will provide an overview on the current state of personalised medicine in cancer. Discussion of the use and development of the various technologies will help us to understand the opportunities and challenges that arise when novel technologies are implemented.

References

  1. Allen D. The new science of personalized medicine: Translating the promise into practice. PricewaterhouseCoopers. 2009.
  2. Wilson PW, D’Agostino RB, Levy D, Belanger AM, Silbershatz H, Kannel WB. Prediction of coronary heart disease using risk factor categories. Circulation. 1998;97(18):1837–47. Epub 1998/05/29.
  3. Chung CC, Chanock SJ. Current status of genome-wide association studies in cancer. Hum Genet. 2011;130(1):59–78. Epub 2011/06/17.
  4. Zhou F, Yu Z, Jiang T, Lv H, Yao R, Liang J. Genetic polymorphisms of GSTP1 and XRCC1: prediction of clinical outcome of platinum-based chemotherapy in advanced non-small cell lung cancer (NSCLC) patients. Swiss Med Wkly. 2011;141:w13275. Epub 2011/10/20.
  5. Wacholder S, Hartge P, Prentice R, Garcia-Closas M, Feigelson HS, Diver WR, et al. Performance of common genetic variants in breast-cancer risk models. N Engl J Med. 2010;362(11):986–93. Epub 2010/03/20.
  6. Zheng SL, Sun J, Wiklund F, Smith S, Stattin P, Li G, et al. Cumulative association of five genetic variants with prostate cancer. N Engl J Med. 2008;358(9):910–9. Epub 2008/01/18.
  7. van Hoek M, Dehghan A, Witteman JC, van Duijn CM, Uitterlinden AG, Oostra BA, et al. Predicting type 2 diabetes based on polymorphisms from genome-wide association studies: a population-based study. Diabetes. 2008;57(11):3122–8. Epub 2008/08/13.
  8. Khor CC, Vannberg FO, Chapman SJ, Guo H, Wong SH, Walley AJ, et al. CISH and susceptibility to infectious diseases. N Engl J Med. 2010;362(22):2092–101. Epub 2010/05/21.
  9. Hunter DJ, Kraft P. Drinking from the fire hose – statistical issues in genomewide association studies. N Engl J Med. 2007;357(5):436–9. Epub 2007/07/20.
  10. de Leon J, Susce MT, Murray-Carmichael E. The AmpliChip CYP450 genotyping test: Integrating a new clinical tool. Mol Diagn Ther. 2006;10(3):135–51. Epub 2006/06/15.
  11. Kim K, Zakharkin SO, Allison DB. Expectations, validity, and reality in gene expression profiling. J Clin Epidemiol. 2010;63(9):950–9. Epub 2010/06/29.
  12. van’t Veer LJ, Dai H, van de Vijver MJ, He YD, Hart AA, Mao M, et al. Gene expression profiling predicts clinical outcome of breast cancer. Nature. 2002;415(6871):530–6. Epub 2002/02/02.
  13. Cardoso F, Piccart-Gebhart M, Van’t Veer L, Rutgers E. The MINDACT trial: the first prospective clinical validation of a genomic tool. Mol Oncol. 2007;1(3):246–51. Epub 2007/12/01.
  14. Paik S, Shak S, Tang G, Kim C, Baker J, Cronin M, et al. A multigene assay to predict recurrence of tamoxifen-treated, node-negative breast cancer. N Engl J Med. 2004;351(27):2817–26. Epub 2004/12/14.
  15. Ross JS, Hatzis C, Symmans WF, Pusztai L, Hortobagyi GN. Commercialized multigene predictors of clinical outcome for breast cancer. Oncologist. 2008;13(5):477–93. Epub 2008/06/03.
  16. Sotiriou C, Pusztai L. Gene-expression signatures in breast cancer. N Engl J Med. 2009;360(8):790–800. Epub 2009/02/21.
  17. Ma XJ, Salunga R, Dahiya S, Wang W, Carney E, Durbecq V, et al. A five-gene molecular grade index and HOXB13:IL17BR are complementary prognostic factors in early stage breast cancer. Clin Cancer Res. 2008;14(9):2601–8. Epub 2008/05/03.
  18. Sotiriou C, Wirapati P, Loi S, Harris A, Fox S, Smeds J, et al. Gene expression profiling in breast cancer: understanding the molecular basis of histologic grade to improve prognosis. J Natl Cancer Inst. 2006;98(4):262–72. Epub 2006/02/16.
  19. Perou CM, Sorlie T, Eisen MB, van de Rijn M, Jeffrey SS, Rees CA, et al. Molecular portraits of human breast tumours. Nature. 2000;406(6797):747–52. Epub 2000/08/30.
  20. Sorlie T, Perou CM, Tibshirani R, Aas T, Geisler S, Johnsen H, et al. Gene expression patterns of breast carcinomas distinguish tumor subclasses with clinical implications. Proc Natl Acad Sci U S A. 2001;98(19):10869–74. Epub 2001/09/13.
  21. Weigelt B, Mackay A, A’Hern R, Natrajan R, Tan DS, Dowsett M, et al. Breast cancer molecular profiling with single sample predictors: a retrospective analysis. Lancet Oncol. 2010;11(4):339–49. Epub 2010/02/26.
  22. Haibe-Kains B, Desmedt C, Loi S, Culhane AC, Bontempi G, Quackenbush J, et al. A three-gene model to robustly identify breast cancer molecular subtypes. J Natl Cancer Inst. 2012;104(4):311–25. Epub 2012/01/21.
  23. Weigelt B, Pusztai L, Ashworth A, Reis-Filho JS. Challenges translating breast cancer gene signatures into the clinic. Nat Rev Clin Oncol. 2011. Epub 2011/09/01.
  24. Subramanian J, Simon R. Gene expression-based prognostic signatures in lung cancer: ready for clinical use? J Natl Cancer Inst. 2010;102(7):464–74. Epub 2010/03/18.
  25. Boveri T. Zur Frage der Entstehung maligner Tumoren. Gustav Fisher, Jena. 1914.
  26. Boveri T. Concerning the origin of malignant tumours by Theodor Boveri. Translated and annotated by Henry Harris. J Cell Sci. 2008;121(Suppl 1):1–84. Epub 2008/12/17.
  27. Hahn WC, Weinberg RA. Rules for making human tumor cells. N Engl J Med. 2002;347(20):1593–603. Epub 2002/11/15.
  28. Hahn WC, Weinberg RA. Modelling the molecular circuitry of cancer. Nat Rev Cancer. 2002;2(5):331–41. Epub 2002/06/05.
  29. Heng HH, Stevens JB, Bremer SW, Ye KJ, Liu G, Ye CJ. The evolutionary mechanism of cancer. J Cell Biochem. 2010;109(6):1072–84. Epub 2010/03/10.
  30. Vogelstein B, Kinzler KW. Cancer genes and the pathways they control. Nat Med. 2004;10(8):789–99. Epub 2004/08/03.
  31. Wood LD, Parsons DW, Jones S, Lin J, Sjoblom T, Leary RJ, et al. The genomic landscapes of human breast and colorectal cancers. Science. 2007;318(5853):1108–13. Epub 2007/10/13.
  32. Stratton MR, Campbell PJ, Futreal PA. The cancer genome. Nature. 2009;458(7239):719–24. Epub 2009/04/11.
  33. Albertson DG. Gene amplification in cancer. Trends Genet. 2006;22(8):447–55. Epub 2006/06/22.
  34. Hanahan D, Weinberg RA. The hallmarks of cancer. Cell. 2000;100(1):57–70. Epub 2000/01/27.
  35. Mitelman F, Johansson B, Mertens F. The impact of translocations and gene fusions on cancer causation. Nat Rev Cancer. 2007;7(4):233–45. Epub 2007/03/16.
  36. Mitelman F, Johansson B, Mertens F. Mitelman Database of Chromosome Aberrations and Gene Fusions in Cancer (2010). 2010; Available from: http://cgap.nci.nih.gov/Chromosomes/Mitelman.
  37. Beerenwinkel N, Antal T, Dingli D, Traulsen A, Kinzler KW, Velculescu VE, et al. Genetic progression and the waiting time to cancer. PLoS Comput Biol. 2007;3(11):e225. Epub 2007/11/14.
  38. Miller DG. On the nature of susceptibility to cancer. The presidential address. Cancer. 1980;46(6):1307–18. Epub 1980/09/15.
  39. Schinzel AC, Hahn WC. Oncogenic transformation and experimental models of human cancer. Front Biosci. 2008;13:71–84. Epub 2007/11/06.
  40. Rowley JD. Letter: A new consistent chromosomal abnormality in chronic myelogenous leukaemia identified by quinacrine fluorescence and Giemsa staining. Nature. 1973;243(5405):290–3. Epub 1973/06/01.
  41. Druker BJ, Tamura S, Buchdunger E, Ohno S, Segal GM, Fanning S, et al. Effects of a selective inhibitor of the Abl tyrosine kinase on the growth of Bcr-Abl positive cells. Nat Med. 1996;2(5):561–6. Epub 1996/05/01.
  42. Hudziak RM, Lewis GD, Winget M, Fendly BM, Shepard HM, Ullrich A. p185HER2 monoclonal antibody has antiproliferative effects in vitro and sensitizes human breast tumor cells to tumor necrosis factor. Mol Cell Biol. 1989;9(3):1165–72. Epub 1989/03/01.
  43. Kallioniemi A, Kallioniemi OP, Sudar D, Rutovitz D, Gray JW, Waldman F, et al. Comparative genomic hybridization for molecular cytogenetic analysis of solid tumors. Science. 1992;258(5083):818–21. Epub 1992/10/30.
  44. Lee W, Jiang Z, Liu J, Haverty PM, Guan Y, Stinson J, et al. The mutation spectrum revealed by paired genome sequences from a lung cancer patient. Nature. 2010;465(7297):473–7. Epub 2010/05/28.
  45. Pleasance ED, Cheetham RK, Stephens PJ, McBride DJ, Humphray SJ, Greenman CD, et al. A comprehensive catalogue of somatic mutations from a human cancer genome. Nature. 2010;463(7278):191–6. Epub 2009/12/18.
  46. Administration USFaD. Table of Pharmacogenomic Biomarkers in Drug Labels. 2011; Available from: http://www.fda.gov/drugs/scienceresearch/researchareas/pharmacogenetics/ucm083378.htm.
  47. Neumann J, Zeindl-Eberhart E, Kirchner T, Jung A. Frequency and type of KRAS mutations in routine diagnostic analysis of metastatic colorectal cancer. Pathol Res Pract. 2009;205(12):858–62. Epub 2009/08/15.
  48. Wicki A, Herrmann R, Christofori G. Kras in metastatic colorectal cancer. Swiss Med Wkly. 2010;140:w13112. Epub 2010/11/26.
  49. Flaherty KT, Puzanov I, Kim KB, Ribas A, McArthur GA, Sosman JA, et al. Inhibition of mutated, activated BRAF in metastatic melanoma. N Engl J Med. 2010;363(9):809–19. Epub 2010/09/08.
  50. Su F, Viros A, Milagre C, Trunzer K, Bollag G, Spleiss O, et al. RAS mutations in cutaneous squamous-cell carcinomas in patients treated with BRAF inhibitors. N Engl J Med. 2012;366(3):207–15. Epub 2012/01/20.
  51. Weeraratna AT. RAF around the edges – the paradox of BRAF inhibitors. N Engl J Med. 2012;366(3):271–3. Epub 2012/01/20.
  52. Moch H, Blank PR, Dietel M, Elmberger G, Kerr KM, Palacios J, et al. Personalized cancer medicine and the future of pathology. Virchows Arch. 2012;460(1):3–8. Epub 2011/12/07.
  53. Navin N, Krasnitz A, Rodgers L, Cook K, Meth J, Kendall J, et al. Inferring tumor progression from genomic heterogeneity. Genome Res. 2010;20(1):68–80. Epub 2009/11/12.
  54. Ruiz C, Lenkiewicz E, Evers L, Holley T, Robeson A, Kiefer J, et al. Advancing a clinically relevant perspective of the clonal nature of cancer. Proc Natl Acad Sci U S A. 2011;108(29):12054–9. Epub 2011/07/07.