Genomics of Cancer and a New Era for Cancer Prevention

Abstract

A primary justification for dedicating substantial amounts of research funding to large-scale cancer genomics projects of both somatic and germline DNA is that the biological insights will lead to new treatment targets and strategies for cancer therapy. While it is too early to judge the success of these projects in terms of clinical breakthroughs, an alternative rationale is that new genomics techniques can be used to reduce the overall burden of cancer by prevention of new cases occurring and also by detecting them earlier. In particular, it is now becoming apparent that studying the genomic profile of tumors can help to identify new carcinogens and may subsequently result in implementing strategies that limit exposure. In parallel, it may be feasible to utilize genomic biomarkers to identify cancers at an earlier and more treatable stage using screening or other early detection approaches based on prediagnostic biospecimens. While the potential for these techniques is large, their successful outcome will depend on international collaboration and planning similar to that of recent sequencing initiatives.

Fig 1. Comparison of (i) the distribution of 22,910 mutations identified from sequencing on SCLC line [19], with (ii) 263 published mutations from 253 SCLCs.

IARC p53 database [18], accessed March 2015.

Fig 2. Mutation patterns from whole genome sequencing of 94 conventional renal carcinomas from four different countries showing a notable excess in the proportion of A>T mutations in cases from Romania.

See Scelo et al. [21].

Fig 3. Causal pathway indicating how ALDH2 is an unconfounded marker (or instrument) of alcohol consumption in the association between alcohol and blood pressure.