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Candidate Gene Testing in Clinical Cohort Studies with Multiplexed Genotyping and Mass Spectrometry
Published on: June 21, 2018
Use of SNPs in cancer predisposition analysis, diagnosis and prognosis: tools and prospects
Lara K Boyd1, Xueying Mao, Yong-Jie Lu
1Queen Mary University of London, Barts and the London School of Medicine and Dentistry, Institute of Cancer, Centre for Molecular Oncology and Imaging, John Vane Science Centre, Charterhouse Square, London EC1M 6BQ, UK +44 20 7882 6140 ; +44 20 7014 0431 ; y.j.lu@qmul.ac.uk.
Background:
The development of cancer is accompanied by several genetic alterations. Single nucleotide polymorphisms (SNPs) are the most common form of genetic variation found in the human population. SNP arrays offer a high-resolution, high-throughput technology for genome-wide analysis, allowing the simultaneous detection of genotype and copy number changes. The power of SNP arrays as a research tool has accelerated our understanding of the genetic alterations in cancer, providing potential clinical applications.
Objective:
This manuscript reviews the use of SNPs in cancer research and discusses the potential clinical application of analysing SNPs for cancer predisposition analysis, diagnosis and prognosis. We also discuss potential future applications for the analysis of SNPs.
Methods:
In writing this review, we have reflected on our own extensive experience in the field of cancer genomics and have surveyed peer-reviewed articles focussing on the application of SNPs in cancer research. In addition, we have referred to product websites.
Conclusion:
Since its development, SNP array technology has been extensively applied in cancer research. Information generated from SNP array analysis has been providing valuable information. With the full understanding of the rich resources of SNPs and their effects on influencing cellular function, SNP arrays will revolutionise the clinical practice in cancer risk assessment, diagnosis and prognosis making the concept of personalised medicine a reality.
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