Genetic mechanisms in kidney cancer

Project researcher: Dr Alvin Lee, Academic Foundation doctor 

Alvin’s work focused on identifying mechanisms that contribute to the formation and survival of kidney cancer cells.

Recent sequencing studies in ccRCC have identified several commonly mutated genes near the VHL gene, within chromosome 3p21, with the four most commonly mutated genes being VHL, SETD2, BAP1, and PBRM1. Mutations of these genes have been identified as truncal mutations in patient samples, indicating a possible role for mutations of these genes in tumourigenesis.

The project aimed to interrogate the mechanisms in which BAP1 and SETD2 contribute to tumour initiation and maintenance. Alvin aimed to generate knockout renal cell lines that were deficient in BAP1 and SETD2 genes using the CRISPR knockout technique. This involved systematically generating the reagents and processes needed to create CRISPR knockout cell lines deficient in BAP1 and SETD2. This work supports ongoing work within the laboratory in interrogating the function of VHL and PBRM1 in cancer.

July 2015