8q24 clear cell renal cell carcinoma germline variant is associated with VHL mutation status and clinical aggressiveness.

ABSTRACT:

Background

The four most commonly-mutated genes in clear cell renal cell carcinoma (ccRCC) tumors are BAP1, PBRM1, SETD2 and VHL. And, there are currently 14 known RCC germline variants that have been reproducibly shown to be associated with RCC risk. However, the association of germline genetics with tumor genetics and clinical aggressiveness are unknown.

Methods

We analyzed 420 ccRCC patients from The Cancer Genome Atlas. Molecular subtype was determined based on acquired mutations in BAP1, PBRM1, SETD2 and VHL. Aggressive subtype was defined clinically using Mayo SSIGN score and molecularly using the ccA/ccB gene expression subtype. Publically-available Hi-C data were used to link germline risk variants with candidate target genes.

Results

The 8q24 variant rs352523

SUBMITTER: Eckel-Passow JE 

PROVIDER: S-EPMC7597051 | biostudies-literature | 2020 Oct

REPOSITORIES: biostudies-literature