P106: Expanding germline hereditary cancer gene panel testing by non-genetics providers: 3-year experience in large integrated healthcare delivery system

Conclusion:In summary, the caPRSx model outperformed the PRS313 and caPRS models in predicting breast cancer risk among AJ women.These findings underscore the importance of including specific ancestry adjustments in polygenic risk models, as demonstrated by the superior performance of caPRSx when AJ ancestry was incorporated.Given the known association of BRCA1 and BRCA2 variants in AJ women and the heightened screening in this population, it is essential that all breast cancer PRS models account for populations beyond the 1000 Genomes reference dataset when implemented clinically.Implementing such refined models in clinical practice could support more precise risk assessments and contribute to risk appropriate preventive strategies for breast cancer among women from diverse backgrounds.

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Publication Details

Journal
Genetics in Medicine Open
Published
2025-01-01
DOI
https://doi.org/10.1016/j.gimo.2025.102950
Primary Topic
BRCA gene mutations in cancer
Type
article
Field-Weighted Citation Impact
0.00
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article

P106: Expanding germline hereditary cancer gene panel testing by non-genetics providers: 3-year experience in large integrated healthcare delivery system

Trevor L. Hoffman, Hilary Kershberg, Farah Brasfield, Reina Haque et al.
Genetics in Medicine Open
BRCA gene mutations in cancer
article

P106: Expanding germline hereditary cancer gene panel testing by non-genetics providers: 3-year experience in large integrated healthcare delivery system

Trevor L. Hoffman, Hilary Kershberg, Farah Brasfield, Reina Haque, Jacquie Greenberg, Devansu Tewari, Mónica Alvarado
article en

Abstract

Conclusion:In summary, the caPRSx model outperformed the PRS313 and caPRS models in predicting breast cancer risk among AJ women.These findings underscore the importance of including specific ancestry adjustments in polygenic risk models, as demonstrated by the superior performance of caPRSx when AJ ancestry was incorporated.Given the known association of BRCA1 and BRCA2 variants in AJ women and the heightened screening in this population, it is essential that all breast cancer PRS models account for populations beyond the 1000 Genomes reference dataset when implemented clinically.Implementing such refined models in clinical practice could support more precise risk assessments and contribute to risk appropriate preventive strategies for breast cancer among women from diverse backgrounds.

Genetics in Medicine OpenVol. 3
Kaiser Permanente (US)
Openalex Percentile: Top 94%
BRCA gene mutations in cancer
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P106: Expanding germline hereditary cancer gene panel testing by non-genetics providers: 3-year experience in large integrated healthcare delivery system — Trevor L. Hoffman, Hilary Kershberg, et al. · Genetics in Medicine Open (2025) | TGRS Research Map | TGRS