Evaluating BRCA Risk Assessment Models
Author Information
Author(s): Panchal Seema M, Ennis Marguerite, Canon Sandra, Bordeleau Louise J
Primary Institution: Mount Sinai Hospital, Marvelle Koffler Breast Centre, Toronto, Ontario, Canada
Hypothesis
Which BRCA risk assessment model performs best in a familial cancer clinic?
Conclusion
The Penn II model is the most effective for identifying individuals suitable for genetic testing in our clinic.
Supporting Evidence
- The Penn II model achieved the highest sensitivity at the recommended testing threshold.
- Models requiring complete pedigree data entry took the longest time to complete.
- Only one model consistently achieved high sensitivity in the population studied.
Takeaway
This study looked at different ways to figure out who might have a gene that increases breast cancer risk, and found one method that works best.
Methodology
Risk calculations were performed using various models on 200 non-BRCA carriers and 100 BRCA carriers.
Potential Biases
Selection and spectrum bias may affect the results due to the characteristics of the probands.
Limitations
The sample size was optimized for the full case-control sample, making subset analyses less precise.
Participant Demographics
Approximately 35% of participants were low risk, and about 40% were of Ashkenazi Jewish descent.
Statistical Information
Confidence Interval
0.70 - 0.82
Digital Object Identifier (DOI)
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