ABSTRACT
T here is no doubt that we are approaching a time when the use o f proper biomarkers will help detect, monitor and manage progression o f cancer, as well as assist in therapeutic decisions. Discovery and validation o f novel cancer biomarkers remain crucial goals o f future patient care. Advanced genomic technologies, such as SNP array and next generation sequencing, help shape the landscapes o f cancer genome and epigenome. Genome-wide associa tion studies (GWAS), a powerful approach to identify common, low-penetrance disease loci, have been conducted in several types o f cancer and have identified many novel associated loci, confirming that susceptibility to these diseases is polygenic. Though the creation o f risk pro files from combinations o f susceptible SNPs are not yet clinically applicable, future, large-scale GWAS holds great promise for individualized cancer screening and prevention. Epigenomic biomarkers like D N A methylation have emerged as highly promising biomarkers and are actively studied in multiple cancers. Validated as being associated with cancer risk or drug response, some D N A methylation biomarkers are being transferred into clinical use. Discovery o f the genes and pathways mutated in human cancer, especially through the large-scale genome-wide sequencing, has provided key insights into the mechanisms underlying tumorigenesis and has suggested new candidate biomarkers for diagnosis, clinical intervention as well as prognosis. The comprehensive landscapes o f cancer genome point out the convergence o f mutations onto pathways that govern the course o f tumorigenesis and indicate that rather than seeking genomics and epigenomics alterations o f specific mutated genes, the combination with dynamic transcriptomics, proteomics and metabonomics o f the downstream mediators or key nodal points may be preferable for future cancer biomarker discovery.
