Journal
TRENDS IN GENETICS
Volume 26, Issue 3, Pages 132-141Publisher
ELSEVIER SCIENCE LONDON
DOI: 10.1016/j.tig.2009.12.008
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Funding
- Associazione and Fondazione Italiana Ricerca Cancro (AIRC and FIRC)
- Fondo Investimenti Ricerca di Base (FIRB), Italy
- National Institutes of Health/National Center for Research Resources [UL1 RR025752]
- NATIONAL CENTER FOR RESEARCH RESOURCES [UL1RR025752] Funding Source: NIH RePORTER
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Genome-wide association studies (GWAS) using population-based designs have identified many genetic loci associated with risk of a range of complex diseases including cancer; however, each locus exerts a very small effect and most heritability remains unexplained. Family-based pedigree studies have also suggested tentative loci linked to increased cancer risk, often characterized by pedigree-specificity. However, comparison between the results of population- and family-based studies shows little concordance. Explanations for this unidentified genetic 'dark matter' of cancer include phenotype ascertainment issues, limited power, gene-gene and gene-environment interactions, population heterogeneity, parent-of-origin-specific effects, and rare and unexplored variants. Many of these reasons converge towards the concept of genetic heterogeneity that might implicate hundreds of genetic variants in regulating cancer risk. Dissecting the dark matter is a challenging task. Further insights can be gained from both population association and pedigree studies.
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