ArticleFrontiers in genetics2026
Genetic profiling of healthy family members of breast and ovarian cancer patients in Estonia.
Article in Frontiers in genetics, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.
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Abstract
Background: Genetic testing for likely pathogenic/pathogenic variants (PV) in Methods: A retrospective analysis was conducted on 3,472 HFMs who underwent genetic testing. Demographic data were collected, and the presence of PVs was assessed. Statistical comparisons were made between individuals with and without known familial PVs, and between male and female participants, using descriptive statistics and proportion comparisons. Results: Of the 3,472 HFMs tested, 87.6% were female and 12.4% male, with a mean age of 41.1 ± 13.0 years. Notably, 78.6% were younger than 51 years, the typical age for initiating standard screening. PVs were identified in 683 individuals (19.7%). Among those with a known familial PV (n = 1,009), 41.8% were carriers, compared to 8.0% among those without a known familial PV (n = 2,408). Males were more likely to be tested when a familial PV was known (26.6%) than when it was not (6.6%), and 34.0% of tested males were PV carriers. PVs were found in 23 different genes, with Conclusion: The findings highlight the value of genetic testing in identifying at-risk individuals among HFMs of BCOC patients. The predominance of
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