• Deodutta RoyEmail author
  • M. Tevfik Dorak


The interplay between genetic variants and environmental factors determines the phenotype, and therefore, their joint consideration is more likely to yield the true estimate of the cancer risk. This chapter attempts to introduce some of the fundamental challenges-related to the basic principles of the environment and gene–environment interactions in cancer susceptibility. The comprehensive understanding of the environment and interaction between genes and environment for development of each specific type of human cancer is needed for better assessing risk factors and prevention of the cancers.


Gene–environment interactions Cancer susceptibility 


  1. Clayton, D., McKeigue, P.M., 2001. Epidemiological methods for studying genes and environmental factors in complex diseases. Lancet 358, 1356–1360.PubMedCrossRefGoogle Scholar
  2. Dempfle, A., Scherag, A., Hein, R., Beckmann, L., Chang-Claude, J., Schafer, H., 2008. Gene-environment interactions for complex traits: definitions, methodological requirements and challenges. Eur J Hum Genet 16, 1164–1172.PubMedCrossRefGoogle Scholar
  3. Hemminki, K., Lorenzo Bermejo, J., Forsti, A., 2006. The balance between heritable and environmental etiology of human disease. Nat Rev Genet 7, 958–965.PubMedCrossRefGoogle Scholar
  4. Hunter, D.J., 2005. Gene–environment interactions in human diseases. Nat Rev Genet 6, 287–298.PubMedCrossRefGoogle Scholar
  5. Kelada, S.N., Eaton, D.L., Wang, S.S., Rothman, N.R., Khoury, M.J., 2003. The role of genetic polymorphisms in environmental health. Environ Health Perspect 111, 1055–1064.PubMedCrossRefGoogle Scholar
  6. Khoury, M.J., Wacholder, S., 2009. Invited commentary: from genome-wide association studies to gene-environment-wide interaction studies – challenges and opportunities. Am J Epidemiol 169, 227–230; discussion 234–225.PubMedCrossRefGoogle Scholar
  7. Kraft, P., Hunter, D., 2005. Integrating epidemiology and genetic association: the challenge of gene–environment interaction. Philos Trans R Soc Lond B Biol Sci 360, 1609–1616.PubMedCrossRefGoogle Scholar
  8. Kraft, P., Yen, Y.C., Stram, D.O., Morrison, J., Gauderman, W.J., 2007. Exploiting gene–environment interaction to detect genetic associations. Hum Hered 63, 111–119.PubMedCrossRefGoogle Scholar
  9. Le Marchand, L., 2005. The predominance of the environment over genes in cancer causation: implications for genetic epidemiology. Cancer Epidemiol Biomarkers Prev 14, 1037–1039.PubMedCrossRefGoogle Scholar
  10. Lynch, H.T., Shaw, T.G., Lynch, J.F., 2004. Inherited predisposition to cancer: a historical overview. Am J Med Genet C Semin Med Genet 129, 5–22.CrossRefGoogle Scholar
  11. Maher, B., 2008. Personal genomes: the case of the missing heritability. Nature 456, 18–21.PubMedCrossRefGoogle Scholar
  12. Murcray, C.E., Lewinger, J.P., Gauderman, W.J., 2009. Gene–environment interaction in genome-wide association studies. Am J Epidemiol 169, 219–226.PubMedCrossRefGoogle Scholar
  13. Offit, K., 2009. Breast cancer single-nucleotide polymorphisms: statistical significance and clinical utility. J Natl Cancer Inst 101, 973–975.PubMedCrossRefGoogle Scholar
  14. Ottman, R., 1996. Gene–environment interaction: definitions and study designs. Prev Med 25, 764–770.PubMedCrossRefGoogle Scholar

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© Springer Science+ Business Media, LLC 2010

Authors and Affiliations

  1. 1.Department of Environmental and Occupational HealthRobert Stempel College of Public Health & Social Work, Florida International UniversityMiamiUSA

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