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Updated: Jun 25, 2026
09:22
Functional Assessment of BRCA1 variants using CRISPR-Mediated Base Editors
Published on: February 28, 2021
The Clinical Application of Refined Risk Estimates (caRe) Study in BRCA1 and BRCA2 Pathogenic Variant Carriers: A
Leigha Senter1, Shelly Hovick2, Rachel Notestine3
1James Cancer Hospital Columbus United States.
Cancer Prevention Research (Philadelphia, Pa.)
|June 24, 2026
Summary
Genotype-informed cancer risk estimates (GRE) did not reduce decisional conflict for women with BRCA1/BRCA2 pathogenic variants (PVs). Standard risk estimates (SRE) decreased conflict but increased stress, highlighting complex decision-making needs.
Area of Science:
- Genetics
- Oncology
- Decision Science
Background:
- Germline BRCA1/BRCA2 pathogenic variants (PVs) present complex cancer risk management challenges.
- Personalized cancer risk information may aid decision-making, but its impact is not well understood.
- Assessing decisional conflict is crucial for evaluating risk communication strategies.
Purpose of the Study:
- To compare the impact of genotype-informed cancer risk estimates (GRE) versus standard lifetime cancer risk estimates (SRE) on decisional conflict in women with BRCA1/BRCA2 PVs.
- To evaluate how different risk communication approaches affect decision-making processes and psychological outcomes.
- To inform the development of effective risk management strategies for hereditary cancer syndromes.
Main Methods:
- A two-arm randomized controlled trial involving women with BRCA1/BRCA2 PVs.
- Participants were randomized to receive either GRE or SRE after disclosure of their PV results.
- Decisional conflict and perceived stress were measured using validated surveys and analyzed via linear regression.
Main Results:
- No significant difference in decisional conflict was observed between the GRE and SRE groups at follow-up.
- The standard risk estimate (SRE) group reported an increased need for personal structure compared to the GRE group.
- Participants receiving SRE showed decreased decisional conflict but increased perceived stress from baseline to follow-up.
Conclusions:
- Genotype-informed cancer risk estimates (GRE) did not reduce decisional conflict in women with BRCA1/BRCA2 PVs.
- Standard risk estimates (SRE) may decrease decisional conflict but can also increase psychological stress.
- Further research is needed to understand how personalized risk information influences actual decision-making behaviors in hereditary cancer management.
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