title: Single nucleotide polymorphisms in clinics: Fantasy or reality for cancer?
abstract: Single nucleotide polymorphisms (SNPs) have been classically used for dissecting various human complex disorders using candidate gene studies. During the last decade, large scale SNP analysis, i.e. genome-wide association studies (GWAS) have provided an agnostic approach to identify possible genetic loci associated with heterogeneous disease such as cancer susceptibility, prognosis of survival or drug response. Further, the advent of new technologies, including microarray-based genotyping as well as high throughput next generation sequencing has opened new avenues for SNPs to be used in clinical practice. It is speculated that the utility of SNPs to understand the mechanisms, biology of variable drug response and ultimately treatment individualization based on the individual's genome composition will be indispensable in the near future. In the current review, we discuss the advantages and disadvantages of the clinical utility of genetic variants in disease risk-prediction, prognosis, clinical outcome and pharmacogenomics. The lessons and challenges for the utility of SNP-based biomarkers are also discussed, including the need for additional functional validation studies.
authors.affiliation: a Cancer and Molecular Medicine Program, Institute of Health and Biomedical Innovation, Queensland University of Technology , Brisbane , Australia and.|b Australian Prostate Cancer Research Centre-Queensland, Translational Research Institute, Woolloongabba , Queensland , Australia.
authors.forename: Srilakshmi
authors.initials: S
authors.lastname: Srinivasan
authors.affiliation: a Cancer and Molecular Medicine Program, Institute of Health and Biomedical Innovation, Queensland University of Technology , Brisbane , Australia and.|b Australian Prostate Cancer Research Centre-Queensland, Translational Research Institute, Woolloongabba , Queensland , Australia.
authors.forename: Judith A
authors.initials: JA
authors.lastname: Clements
authors.affiliation: a Cancer and Molecular Medicine Program, Institute of Health and Biomedical Innovation, Queensland University of Technology , Brisbane , Australia and.|b Australian Prostate Cancer Research Centre-Queensland, Translational Research Institute, Woolloongabba , Queensland , Australia.
authors.forename: Jyotsna
authors.initials: J
authors.lastname: Batra
mesh_terms: D055088:Early Detection of Cancer / Q000379:methods* / Q000706:statistics & numerical data; D019317:Evidence-Based Medicine; D020022:Genetic Predisposition to Disease / Q000453:epidemiology / Q000235:genetics*; D006801:Humans; D009369:Neoplasms / Q000175:diagnosis* / Q000453:epidemiology / Q000235:genetics*; D020411:Oligonucleotide Array Sequence Analysis / Q000379:methods* / Q000706:statistics & numerical data; D020641:Polymorphism, Single Nucleotide / Q000235:genetics*; D011379:Prognosis; D015203:Reproducibility of Results; D018570:Risk Assessment; D012680:Sensitivity and Specificity
keywords: GWAS; SNP; cancer; diagnostics; genome; pharmacogenomics