Abstract
Genome-wide association studies in cancer have already identified over 150 regions associated with two dozen specific cancers. Already, a handful of multi-cancer susceptibility regions have been uncovered, providing new insights into perhaps common mechanisms of carcinogenesis. For each new susceptibility allele, investigators now face the arduous task of interrogating each region beginning with fine mapping prior to pursuing the biological basis for the direct association of one or more variants. It appears that there may be a significant number of common alleles that contribute to the heritability of a specific cancer. Since each region confers a small contribution to the risk for cancer, it is daunting to consider any single nucleotide polymorphism (SNP) as a clinical test. Since the complex genomic architecture of each cancer differs, additional genotyping and sequence analysis will be required to comprehensively catalog susceptibility alleles followed by the formidable task of understanding the interactions between genetic regions as well as the environment. It will be critical to assess the applicability of genetic tests in specific clinical settings, such as when to perform screening tests with calculable risks (e.g., biopsies or chemoprevention), before incorporating SNPs into clinical practice. To advance the current genomic observations to the clinical venue, new studies will need to be designed to validate the utility of known genetic variants in assessing risk for cancer as well as its outcomes.
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Acknowledgments
This work was supported by the intramural research program of the National Institutes of Health, National Cancer Institute. S.J.C. would like to acknowledge the receipt of a sabbatical position supported by the E. de Rothschild and Y Mayent Foundation of the Institut Curie, Paris, France. We thank Marie-Josephe Horner for editorial support.
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Chung, C.C., Chanock, S.J. Current status of genome-wide association studies in cancer. Hum Genet 130, 59–78 (2011). https://doi.org/10.1007/s00439-011-1030-9
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DOI: https://doi.org/10.1007/s00439-011-1030-9