Prostate cancer is one of the most common cancers in men. Many cases develop slowly and can be treated successfully when found early.
However, some forms are much more aggressive and spread to other parts of the body before they are discovered. Scientists have long known that a small number of prostate cancers are inherited.
These cancers are caused by harmful gene changes passed from parents to their children. The best-known inherited cancer genes are BRCA1 and BRCA2, which increase the risk of several cancers and have already changed the way doctors screen people from high-risk families.
Now researchers at the University of British Columbia have discovered another inherited gene that may identify families at risk of developing aggressive prostate cancer.
The newly identified gene is called CDK12. Until recently, scientists believed harmful changes in this gene only appeared inside cancer cells during a person’s lifetime and could not be inherited.
In the new international study, researchers examined genetic information from more than 4,500 people with aggressive prostate cancer.
They found five unrelated men who had inherited harmful CDK12 mutations. Every one of these men developed metastatic prostate cancer between the ages of 44 and 62, meaning the disease had already spread beyond the prostate when it was diagnosed.
The scientists then studied the tumors in detail. They found a unique genetic pattern showing that the inherited CDK12 mutation had directly contributed to the cancer. This evidence strongly suggests that the mutation is an important cause of aggressive disease in these families.
Although the mutation appears to be very rare, affecting roughly one in every 1,000 people with aggressive prostate cancer, researchers believe hundreds of families worldwide could carry it. Identifying one affected person may allow doctors to test close relatives, who can then receive regular screening and treatment before cancer becomes advanced.
One reason this discovery is especially important is that hospitals already have the technology needed to test for CDK12. Researchers believe the gene could be added to existing hereditary cancer testing panels without major changes, helping the findings reach patients much sooner.
The study also found hints that inherited CDK12 mutations could increase the risk of ovarian cancer because several affected families had a history of the disease. Scientists will continue investigating this possible connection.The study was published in the journal Cancer Discovery.
Overall, this research identifies a very rare inherited genetic change, so it will not explain most cases of prostate cancer. However, its value could be very large for the families who carry the mutation because early genetic testing may allow cancer to be found before it spreads.
The study involved international experts and used genetic evidence from patients’ tumors, making the findings convincing.
More research is still needed to learn exactly how common these mutations are and whether they increase the risk of other cancers, but the discovery could quickly influence clinical care because existing genetic tests can already detect CDK12 mutations.
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