Study Supports Earlier Genetic Testing for Hereditary Breast and Ovarian Cancer

Hereditary breast and ovarian cancers may go undetected in at-risk relatives until standard screening begins, narrowing the window for prevention. Earlier identification of pathogenic variants can inform surveillance, risk-reducing surgery, and family-based testing strategies, yet access and uptake remain uneven, particularly among men. Understanding how often high-risk variants occur among relatives of affected patients can help clarify who should be tested and when. A new study shows that nearly one in five healthy relatives of patients in Estonia carry clinically important variants.

At the Institute of Clinical Medicine in Tartu, Estonia, investigators evaluated results generated by multigene panel testing to characterize hereditary risk among relatives of patients with breast or ovarian cancer. The analysis focused on how contemporary testing approaches identify carriers in clinical pathways, with attention to age at testing and sex-specific uptake. The authors also noted that next-generation sequencing (NGS) became broadly available after 2015 and has since increased variant detection.

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The team reviewed data from 3,472 people who underwent genetic testing in Estonia between 2007 and 2023. Most were referred because a family member had breast or ovarian cancer and clinicians suspected a hereditary link. Women accounted for 87.6% of those tested, while men represented 12.4%. The mean age at testing was 41 years, about a decade earlier than the usual start of breast cancer screening in Estonia, and 78.6% of participants were younger than the standard screening age. Pathogenic variants were most common among people younger than 30, although positive results were also identified in individuals older than 71.

Overall, 19.7% of participants carried pathogenic variants, including 34% of men who underwent testing. Researchers identified 23 distinct variants, with almost 59% attributable to BRCA1 or BRCA2. Among participants with a known familial pathogenic variant, 41.8% were themselves carriers; among those without a previously identified familial variant, 8% carried pathogenic variants. Men were less likely to be tested in the absence of a known familial variant, yet one-third of those tested were positive.

The authors reported that changing access and test quality over time likely influenced yields: only three people were tested in 2007 compared with 731 in 2023, and more pathogenic variants were identified after NGS became readily available. They indicated that the findings support earlier genetic risk assessment rather than simply lowering screening age thresholds, broader and more systematic cascade testing when a familial variant is known, and greater attention to male relatives. The article appears in Frontiers in Genetics on July 6, 2026.

“Genetic testing and earlier risk assessment in families affected by breast and ovarian cancer can inform health care policy and guide the implementation of preventive programs. In the future, we would like to see population-based screening approaches beyond family-history criteria, strategies to improve male participation in genetic testing, and experimental work aimed at understanding the biological and clinical impact of less common or moderate-risk pathogenic variants,” said Dr. Mikk Tooming of the Institute of Clinical Medicine in Tartu, Estonia, lead author of the article in Frontiers in Genetics.

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