Massive Study Identifies Genetic Variants Linked to Increased Cancer Risk

The University of Cambridge and the Institute of Cancer Research, London, released a press statement indicating that several genetic variations have been identified that are associated with increasing the risk of developing certain cancers. Although the genetic tests for these findings are not yet available to the public, they are projected to become available within 5-10 years.

Cancer is a disease that is prevalent throughout the world. Often, if a cancer is diagnosed early, chances are survival are significantly improved compared to a diagnosis once the cancer is in an advanced state. Therefore, understanding which individuals might be at a high risk of developing a certain cancer and how to appropriately screen for these cancers is of paramount importance to improving outcomes for this disease.

The recent study is the largest study of its kind ever completed. It involved the DNA of approximately 200,000 people – 100,000 of whom had been diagnosed with cancer and 100,000 of whom had not been diagnosed with cancer. The hope of the researchers was to identify specific genes or genetic components referred to as single nucleotide polymorphisms (SNPs) that conferred a higher risk of developing certain cancers.

Over 80 regions of the genome were identified that were associated with an increased risk of cancer.
Genetic alterations were identified that were associated with a significantly higher risk of developing prostate, breast or ovarian cancers.
The risk of developing these cancers continued to increase with greater numbers of these genetic alterations.
The press release stated that “Each alteration raises the risk of cancer by a small amount, but the one per cent of people who have lots of these alterations could see their risk of developing prostate cancer increase to nearly 50 per cent and breast cancer to around 30 per cent.”

“Dr Harpal Kumar, Cancer Research UK’s chief executive, said: “This groundbreaking international work highlights how complex cancer is. Hundreds, if not thousands of genes are likely to play a role in how cancers start. But by understanding why some people seem to be at a greater risk of developing cancer we can look towards an era where we can identify them and take steps to reduce their chances of getting cancer or pick up the disease in its earliest stages.”

Reference: Cancer Research UK Press Release. Study reveals the genetic variations that raise the risk of breast, prostate or ovarian cancer. March 27, 2013.