Journal: Scientific reports
This prospective cohort study from a high‑risk clinic in Brazil evaluated how genetic testing and counseling influence uptake intentions for risk‑reducing salpingo‑oophorectomy (RRSO) among women at elevated risk for breast/ovarian cancer.
Design and population
- 355 high‑risk women followed between Nov 2021–Oct 2022.
- Mean age ~43; 71.5% <50 years; 61.6% premenopausal; 60.3% white.
- All participants underwent multigene germline testing plus pre‑ and post‑test genetic counseling.
Genetic findings
- 28.7% (102/355) had likely pathogenic/pathogenic variants.
- ~59% of these variants were in BRCA1/2.
Intention for RRSO and its change after testing
- Pre‑test: 42.5% intended to undergo RRSO.
- Post‑counseling: intention decreased to 33.4% (p < 0.05).
- Pre‑test intention was more frequent in women aged 40–49, those who were premenopausal, and those with higher education.
Independent predictors of intention for RRSO (multivariable analysis)
- Desire for risk‑reducing mastectomy (very strong association; OR ≈ 39).
- Presence of a pathogenic BRCA variant (OR 15.46).
- Personal history of cancer (OR 2.69).
Pattern of change in intention
- Women without high‑penetrance BRCA variants predominantly withdrew their intention for RRSO after receiving results and counseling.
- Women with pathogenic variants in high‑risk genes more often adopted intention for RRSO after testing.
Clinical implication
Access to comprehensive germline testing and structured counseling shifts RRSO decisions in a gene‑ and risk‑specific manner, helping align high‑morbidity preventive surgery with individualized, evidence‑based risk estimates rather than baseline anxiety or nonspecific high‑risk status.