The application of genetics and genomics to cancer prevention

Abstract

Advances in technology have accelerated the translation of genetics and genomics into the arena of cancer prevention. This provides unique opportunities to individualize cancer risk prediction so early intervention can either modify risk or allow for early diagnosis thereby potentially decreasing the morbidity and mortality of cancer and containing costs. While the full potential of these genetic/genomic discoveries have yet to be realized, many have clear clinical relevance such as the value of family history and/or tumor profiling to identify those who may harbor a mutation in a cancer susceptibility gene and are therefore candidates for genetic testing. Here, we provide an overview of the scope of genetic and genomic influences on cancer risk assessment and the entire spectrum of cancer prevention.

Figure 1.

Single-nucleotide polymorphism (SNP).

Figure 2.

Cost of DNA sequencing and cumulative number of genomes sequenced as a function of time. Reproduced from Snyder et al. Genes & Development 23:423–431 with permission from Cold Spring Harbor Laboratory Press.

Figure 3.

Example pedigree.