All cancers stem from changes that occur in the DNA sequence of the genomes of cancer cells. The application of Next-Generation Sequencing (NGS) technologies in cancer research has provided a global view of the cancer genome. NGS applications such as whole genome, whole exome, and transcriptome sequencing have resulted in a huge expansion in our knowledge of oncogenic genomic alterations such as point mutations, insertions or deletions, copy number variants and structural variants. In addition,researchers have been able to use NGS technologies to identify new oncogenes and unravel the underlying molecular mechanisms of oncogenesis, metastasis, and tumour complexity and heterogeneity. This information can be used to inform on therapeutic and treatment options, as well as on diagnostic and preventive strategies.
Genomics Application in Cancer research
- NGS technologies can also provide insight into the patterns of gene expression and silencing. For example, RNA sequencing can be used to detect differential expression,alternative splicing, RNA editing and fusion transcripts. Epigenetic changes such as DNA methylation and histone modification add another layer of complexity and can also play a major role in the genomic landscape of cancer. These epigenetic changes can be analysed using techniques such as bisulfite sequencing and ChIP-seq. Whole genome and whole exome sequencing can be used to identify cancer-related mutations and mutational signatures associated with cancer risk or potential treatment response.
- NGS data can be used to uncover mutations previously unlinked to certain cancer types to open up treatment options for patients.
- NGS data can be used to categorize patients in clinical trials based on their tumour genotype and identify patients who may respond to certain therapeutics.