ArticleGenetics in medicine open2024
Combining rare and common genetic variants improves population risk stratification for breast cancer.
Article in Genetics in medicine open, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 7 papers.
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Who cites it
7 citing papers in PubMed.
- Clinical implications of rare and common variation in preimplantation genetic testing for breast cancer.NPJ genomic medicine · 2026Article
- Clinical implications of rare and common variation in preimplantation genetic testing for breast cancer.medRxiv : the preprint server for health sciences · 2025Article
- Polygenic Risk Scores in Dilated Cardiomyopathy: Towards the Future.Current cardiology reports · 2025Review
- Review
- Implementing the Risk Stratification and Clinical Management of Breast Cancer Families Using Polygenic Risk Score Evaluation: A Pilot Study.Journal of personalized medicine · 2024Article
- Screening Familial Risk for Hereditary Breast and Ovarian Cancer.JAMA network open · 2024Article
- The Potential of Genetics in Identifying Women at Lower Risk of Breast Cancer.JAMA oncology · 2024Article
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Authors and funding
19 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Purpose: This study aimed to evaluate the performance of different genetic screening approaches to identify women at high risk of breast cancer in the general population. Methods: We retrospectively studied 25,591 women with available electronic health records and genetic data, participants in the Healthy Nevada Project. Results: Family history of breast cancer was ascertained on or after the record of breast cancer for 78% of women with both, indicating that this risk assessment method is not being properly utilized for early screening. Genetics offered an alternative method for risk assessment. 11.4% of women were identified as high risk based on possessing a predicted loss-of-function (pLOF) variant in Conclusion: Our findings suggest that a combined monogenic and polygenic approach allowed a better identification of participants with high risk while minimizing false positives.
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Registered trials
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