The researchers enrolled 70 probands with confirmed pathogenic or likely pathogenic germline variants in hereditary gynecological cancer susceptibility genes, along with 307 at-risk relatives. Among the probands, isolated ovarian cancer was the most common personal malignancy, accounting for 60.00%, followed by isolated breast cancer at 31.43%; synchronous ovarian and breast cancer occurred in 1.43%. BRCA1 or BRCA2 germline mutations were detected in 90.00% of probands. Self-designed questionnaires collected information about the probands, the relatives and the characteristics of their relationships, while multivariable binary logistic regression was used to identify factors associated with uptake of family-specific variant testing.

Overall, 111 of the 307 relatives underwent testing. Of these participants, 53 carried pathogenic or likely pathogenic germline variants. First-degree relatives made up 244 of the 307 relatives, or 79.48% of the cohort. Testing was completed by 79 of the 244 first-degree relatives, a rate of 32.38%, and 39 of those tested, or 49.37%, carried pathogenic or likely pathogenic variants. The results describe testing uptake and the identification of variants among those who sought testing; the study did not evaluate whether testing resulted in changes in clinical management, cancer prevention or clinical outcomes.

In multivariable analyses of the full relative cohort, having a bachelor’s degree or above was associated with higher odds of testing compared with lower educational attainment (odds ratio [OR] 2.106, 95% confidence interval [CI] 1.211–3.664; P = 0.008). A very good overall family relationship was likewise associated with higher odds of testing (OR 1.905, 95% CI 1.087–3.340; P = 0.024). The strongest measured association was with communication frequency: relatives who communicated with the proband at least five times per month had nearly four times the odds of undergoing testing compared with those communicating less frequently (OR 3.952, 95% CI 1.720–9.077; P = 0.001). Similar independent effects were observed in the first-degree relative subgroup.

These findings identify family communication, relationship quality and education as factors statistically associated with uptake in this at-risk population, but they do not establish that those characteristics caused relatives to seek testing. The cross-sectional design limits conclusions about temporal sequence and leaves the direction of the relationships unresolved. The sample was also drawn from a single hospital, and the reported results concern uptake among the enrolled relatives rather than all eligible members of each family. The authors’ proposed family-centered communication and educational approaches may inform future work, but neither intervention was tested in this study. Overall, the findings point to substantial missed opportunities for family-specific variant testing while underscoring the need to evaluate strategies that could increase participation.

Subject of Research: Determinants of family-specific genetic testing uptake among relatives of hereditary gynecological cancer probands

Article Title: Uptake and associated factors of family-specific variant genetic testing among at-risk relatives of hereditary gynecological cancer probands

Article References: Wang, X., Wang, H., Cai, H., You, J., Zhao, Y., Chen, X., & Ding, Y. (2026). Uptake and associated factors of family-specific variant genetic testing among at-risk relatives of hereditary gynecological cancer probands. BMC Cancer. https://doi.org/10.1186/s12885-026-16892-5

Image Credits: AI Generated

DOI: 10.1186/s12885-026-16892-5

Keywords: hereditary gynecological cancer, genetic testing, cascade testing, BRCA1, BRCA2, family communication, germline variants, health education, Uptake, associated, factors, family-specific