Role of Polymorphisms in Cancer Susceptibility
作者： Iain Beehuat Tan , Joanne Ngeow , Patrick Tan , None
DOI: 10.1002/9780470015902.A0022403
关键词:
摘要: 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 typically involve germline mutations exhibiting high-penetrance effects, but these account for only a small proportion of cancers. For sporadic cancers, monogenic association studies focusing on candidate genes with strong biological hypothesis have demonstrated an increased risk cancers associated involved cell cycle control, carcinogen metabolism, DNA (deoxyribonucleic acid) repair, apoptosis, inflammation epigenetic regulation. Recent genome-wide gone beyond gene approach search across entire loci. This exponential knowledge has our understanding carcinogenesis provided translational research opportunities into personalised assessment, therapy drug discovery. Key Concepts: Rare hereditary syndrome oncogenes tumour suppressor genes, minority cancers. The overwhelming majority normal population is likely attributable common genome. Candidate approaches identified several known well repair cell-cycle control that are susceptibility. The conferred by each polymorphism small. Data from separate often conflicting. Meta-analysis be used integrate conflicting findings studies. The functional mechanisms which many lead not been established. In recent years, high-resolution public databases information, technological advances reduced costs genotyping led rapid emergence (GWAS) survey loci. By approaches, putative loci, novel insights carcinogenesis. This increase opened new horizons understand oncogenesis discovery. Keywords: polymorphisms; cancer susceptibility; single nucleotide polymorphisms; genome-wide studies; hereditary
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