Approximately 20% of people of European descent carry two copies of the first variant, a version of an SNP on chromosome 8q24, putting them at a 50% higher risk of developing bladder cancer than those without the variant.
Individuals who carry two copies of a common version of another SNP on chromosome 3 were found to be at a 40% higher risk of the disease than non-carriers. These are said to be the best-replicated genetic variants ever linked to bladder cancer risk, and the study analyzed genotypic data from more than 40,000 patients and controls from Iceland, the Netherlands and eight other European countries.
Kari Stefansson, CEO of deCODE, said: “We expect that the detection of these and other risk variants will soon be employed to complement the assessment of standard risk factors for bladder cancer. As with all of our discovery work, we seek to publish our findings and establish a solid intellectual property position in order to bring these swiftly into the healthcare arena, and have already folded today’s findings into our deCODEme personal genome analysis service.
“At the same time, we are working to identify the common thread of variants we and others have discovered on chromosome 8q24 that confer risk of several forms of cancer, including prostate, breast, colorectal and now bladder. If a common molecular mechanism exists, it could provide an important insight into oncogenesis more broadly.”