Role of Polymorphisms in Cancer Susceptibility


Genetic variations or polymorphisms existing in the human genome can confer genetic susceptibility to cancer. Rare early onset cancer predisposition syndromes such as Li‐Fraumeni and Cowden syndromes typically involve germline mutations exhibiting high‐penetrance effects, but these account for only a small proportion of human cancers. For sporadic cancers, early monogenic association studies focusing on candidate genes with strong biological hypothesis have demonstrated an increased risk of cancers associated with polymorphisms in genes involved in cell cycle control, carcinogen metabolism, DNA (deoxyribonucleic acid) repair, apoptosis, inflammation and epigenetic regulation. Recent genome‐wide association studies have gone beyond the monogenic candidate gene approach to search across the entire genome for cancer susceptibility loci. This exponential knowledge has increased our understanding of carcinogenesis and provided translational research opportunities into personalised risk assessment, therapy and drug discovery.

Key Concepts:

  • Rare hereditary cancer syndromes such as Li‐Fraumeni syndrome typically involve high‐penetrance mutations of oncogenes or tumour suppressor genes, but account for a minority of human cancers.

  • The overwhelming majority of cancer susceptibility in the normal population is likely attributable to common genetic variations or polymorphisms in the human genome.

  • Candidate gene approaches have identified several polymorphisms of known oncogenes and tumour suppressor genes, as well as genes involved in carcinogen metabolism, DNA repair and cell‐cycle control that are associated with cancer susceptibility.

  • The increased risk conferred by each polymorphism is small.

  • Data from separate association studies are often conflicting. Meta‐analysis can be used to integrate conflicting findings across several studies.

  • The functional mechanisms by which many polymorphisms lead to cancer susceptibility has not been established.

  • In recent years, high‐resolution public databases of genetic information, technological advances and reduced costs of genotyping have led to a rapid emergence of genome‐wide association studies (GWAS) that survey the entire genome for cancer susceptibility loci.

  • By these approaches, putative risk loci, novel cancer genes have increased biological insights into carcinogenesis.

  • This exponential increase in knowledge has opened new horizons to understand oncogenesis and translational research opportunities into personalised risk assessment, therapy and drug discovery.

Keywords: polymorphisms; cancer susceptibility; single nucleotide polymorphisms; genome‐wide association studies; hereditary cancer syndromes


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Further Reading

Robson ME, Storm CD, Weitzel J and Wollins DS, Offit K (2010) American Society of Clinical Oncology policy statement update: genetic and genomic testing for cancer susceptibility. Journal of Clinical Oncology 28(5): 893–901.

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Spitz MR and Bondy ML (2010) The evolving discipline of molecular epidemiology of cancer. Carcinogenesis 31(1): 127–134.

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Tan, Iain Beehuat, Ngeow, Joanne, and Tan, Patrick(Sep 2010) Role of Polymorphisms in Cancer Susceptibility. In: eLS. John Wiley & Sons Ltd, Chichester. [doi: 10.1002/9780470015902.a0022403]