Each year, approximately 2000 new patients are diagnosed with clear cell renal cancer (RCC) in Hungary. The four most common genes associated with the disease are VHL, PBRM1, BAP1, and SETD2. All of these genes are on the short arm of the 3rd chromosome. In our current project we focus on the PBRM1 gene - a mutation in PBRM1 is the second most common RCC gene alteration flowing mutations in the VHL gene. A mutation in PBRM1 is usually present in the early phase of tumorigenesis and is a driver event in the tumor progression. In our planned study we will investigate following questions:

1. We will compare PBRM1 wild type and mutated tumor samples. Expressional changes will be computed by ROC analysis performed using TCGA RCC samples with available mutation- and gene expression profiles.

2. We will validate gene expression changes related to PBRM1 mutations in HK2 RCC cell lines.

3. We will validate PRBM1 mutation state and gene expression changes in our biobank comprising 100+ RCC samples.

4. Finally, in case of actionable hits we will consider to test the effect of an inhibitor on the proliferation in PRBM1 mutant HK2 cell lines.

Balázs Győrffy -  Péter Nyirády


Report I. 2016. september

Report II. 2016. november

Report III. 2017. january