Most cancers develop after many years as damage slowly builds up inside cells. Only a small percentage are caused by inherited gene changes passed through families.
Finding these inherited mutations is important because healthy relatives can be tested long before cancer develops.
This allows doctors to offer earlier screening and, in some cases, prevent life-threatening disease.
A new study has uncovered a previously unrecognized inherited cause of aggressive prostate cancer.
Researchers from the University of British Columbia and international partners discovered that rare inherited changes in a gene called CDK12 may place some families at very high risk.
The team analyzed DNA from more than 4,500 people with aggressive prostate cancer. Five men from unrelated families carried inherited CDK12 mutations. All were diagnosed with metastatic prostate cancer between the ages of 44 and 62, showing that the disease had already spread when it was found.
For years, scientists thought CDK12 mutations happened only by chance inside tumors. By carefully examining the patients’ cancers, the researchers identified a distinctive genetic fingerprint showing that the inherited mutation had switched off the normal function of the gene and played a direct role in causing cancer.
This finding could change how doctors care for families with inherited cancer risk. Even though the mutation is uncommon, testing relatives of affected patients could identify people who need earlier and more frequent prostate cancer screening. Detecting cancer before it spreads greatly improves the chances of successful treatment.
The researchers also noticed that several families carrying CDK12 mutations had relatives with ovarian cancer. They even identified a patient with ovarian cancer who carried the same inherited mutation. While more research is needed, this raises the possibility that CDK12 may influence the risk of more than one type of cancer.
Because CDK12 can already be detected using current genetic testing technology, the researchers believe this discovery could move into routine medical practice relatively quickly, giving high-risk families valuable information about their future health.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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