Prostate cancer risk area at 17q21

The G84E mutation of HOXB13 gene has been linked to significantly increased prostate cancer risk (Ewing et al. 2012), especially in Finns (Laitinen et al. 2013). However, the HOXB13 G84E risk variant has only partially explained the linkage and GWAS signal to 17q21 observed in Finns earlier (Cropp et al. 2011).

Our new GWAS findings on this region, might explain the remaining part of this detected associaition. Finemapping of the 17q21 area is ongoing based on existing DNA/RNA-seq data to see the total variation/variants, mutational load and linkage disequilibrium of the genomic region, together with eQTL and sQTL analyses. Here, also the FinnGen (https://www.finngen.fi/en)  data will be used for the profiling of the area.

In addition, we’re also continuing our functional work with HOXB13 and the G84E mutation using CRISPR-Cas9 based techniques.