Molecular and genetic epidemiology represent two separate branches of epidemiology whose boundaries are overlapping. While molecular epidemiology evaluates the association of variations in known genes with risk of cancer, genetic epidemiology aims to identify the unknown genes that influence risk of malignancies.3-14 Moreover, molecular epidemiology also uses molecular markers to link exposures to cancer.7-13 The two terms are very often used interchangeably and are referred to in the following as molecular cancer epidemiology.
Molecular cancer epidemiology identifies risk factors for the different cancer types at the population level. These studies are usually carried out as either case-control, cohort cross-sectional, or ecological studies.14 Case-control studies investigate patients with a specific cancer in relation to a healthy group (which serves as the control) while the cohort study assesses distribution of exposures to certain risk factors in a subset of a population and correlates it with the future occurrence of cancer. In contrast cross-sectional studies survey the distribution of cancer and its putative risk factors in a subset of the population while ecological studies attempt to demonstrate the relation between risk factors and cancer in a single population.14
Remarkable progress in our understanding of the molecular pathogenesis of cancer has been made and is beginning to have positive impact across the whole field of oncology: from prevention through screening and diagnosis to the development of molecularly targeted therapies. Major advances in molecular (or genetic) markers have been made which have a great impact on health risk assessment. For example, rather than treating all cases of breast cancer as the same disease, an epidemiologist can use tumor markers to identify potentially more heterogeneous subsets.
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