An Estonian study found that nearly 20% of healthy relatives of breast and ovarian cancer patients carry pathogenic gene variants — including a surprising one-third of men tested. Researchers say this underscores the need for earlier, broader genetic testing beyond standard screening ages. Knowing your risk early can open the door to life-saving preventive strategies.
A new study out of Estonia is making a strong case for earlier and wider genetic testing in families affected by breast and ovarian cancer. Researchers analyzed data from 3,472 individuals tested between 2007 and 2023 and found that nearly 1 in 5 carried pathogenic gene variants — far higher than what's seen in the general population. Most participants were tested at a mean age of 41, a full decade before Estonia's standard cancer screening age, and the youngest group (under 30) had the highest positivity rates.
The findings also shine a light on an often-overlooked group: men. A third of male participants tested positive for at least one pathogenic variant, with BRCA2 carriers facing elevated risks for prostate and other cancers. Researchers are calling for broader multigene panel testing and more systematic outreach to male relatives in affected families.
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Why it matters: Standard population screening may be missing high-risk individuals — both younger patients and men — who could benefit from earlier surveillance or preventive interventions. Expanding access to genetic testing could meaningfully reduce hereditary cancer deaths.
