Posted on October 17, 2014
Researchers led by Ludmila Prokunina-Olsson, Ph.D., in DCEG's Laboratory of Translational Genomics, have identified the first genetic variant associated with risk of aggressive bladder cancer. The variant, rs7257330, is in the promoter region of the CCNE1 gene, which encodes for cyclin E protein, a cell cycle regulator. This result comes from a fine-mapping analysis of data from two bladder cancer genome-wide association studies and functional studies. As the first and the only germline genetic marker that significantly discriminates between aggressive and non-aggressive bladder cancer, rs7257330 could be useful for inclusion in bladder cancer risk prediction models, in combination with established bladder cancer risk factors and other genetic markers.
Reference: Fu YP, Kohaar I, Moore LE. The 19q12 bladder cancer GWAS signal: Association with cyclin E function and aggressive disease. Cancer Res 2014;74:5808-5818