Abstract
Clear cell renal cell carcinoma (ccRCC) is a sporadic disorder associated closely with the loss of the short arm of chromosome 3 (3p), observed in approximately 95% of cases. This project utilizes the Illumina Next Generation Sequencing (NGS) platform combined with the AmpliSeq for Illumina Cancer HotSpot Panel v2 to understand its relevance and applicability in regard to the pathogenesis of ccRCC. The aim of this project was to determine whether NGS can be used to characterise ccRCC. This was undertaken firstly by carrying out a comprehensive review of the Illumina Cancer HotSpot Panel genes and their relevance to ccRCC. Then using ccRCC data sets from The Cancer Genome Atlas (TCGA) in conjunction with the Illumina Cancer HotSpot Panel. Lastly, this study generated sequencing data from 16 ccRCC cases using the Illumina NGS platform to compare with the literature on the Illumina Cancer HotSpot Panel association with ccRCC and ccRCC data on TCGA.
The results of this project illustrate the significance of the methodologies used on TCGA. To analyse the genetic mutations and aberrations of ccRCC tumours, it is critical to choose an appropriate NGS panel that matches the genomic landscape of the pathogenesis of ccRCCs. This project investigated the applicability of the Illumina Cancer HotSpot Panel in ccRCC research - To discover the genomics of the pathogenesis of ccRCC.
Molecular profiling through NGS technologies has improved the diagnosis and treatment of many different cancer types. By applying similar approaches to ccRCC research, researchers could improve the health status of New Zealanders and deepen our understanding of the pathogenesis of ccRCC.