The DOI matches its Crossref record; 38 of the 38 references it cites were found in a registry or an index.
BOADICEA: a comprehensive breast cancer risk prediction model incorporating genetic and nongenetic risk factors
Open accessAbstract
PURPOSE: Breast cancer (BC) risk prediction allows systematic identification of individuals at highest and lowest risk. We extend the Breast and Ovarian Analysis of Disease Incidence and Carrier Estimation Algorithm (BOADICEA) risk model to incorporate the effects of polygenic risk scores (PRS) and other risk factors (RFs). METHODS: BOADICEA incorporates the effects of truncating variants in BRCA1, BRCA2, PALB2, CHEK2, and ATM; a PRS based on 313 single-nucleotide polymorphisms (SNPs) explaining 20% of BC polygenic variance; a residual polygenic component accounting for other genetic/familial effects; known lifestyle/hormonal/reproductive RFs; and mammographic density, while allowing for missing information. RESULTS: Among all factors considered, the predicted UK BC risk distribution is widest for the PRS, followed by mammographic density. The highest BC risk stratification is achieved when all genetic and lifestyle/hormonal/reproductive/anthropomorphic factors are considered jointly. With all factors, the predicted lifetime risks for women in the UK population vary from 2.8% for the 1st percentile to 30.6% for the 99th percentile, with 14.7% of women predicted to have a lifetime risk of ≥17-<30% (moderate risk according to National Institute for Health and Care Excellence [NICE] guidelines) and 1.1% a lifetime risk of ≥30% (high risk). CONCLUSION: This comprehensive model should enable high levels of BC risk stratification in the general population and women with family history, and facilitate individualized, informed decision-making on prevention therapies and screening.
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Self-citationBreast-Cancer Risk in Families with Mutations in PALB2
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Self-citationDeveloping and evaluating polygenic risk prediction models for stratified disease prevention
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Self-citationPrograms for pedigree analysis: Mendel, Fisher, and dGene
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Crosby, D., Bhatia, S., Brindle, K. M., Coussens, L. M., Dive, C., Emberton, M., Esener, S., Fitzgerald, R. C., Gambhir, S. S., Kuhn, P., et al. (2022) · Science · doi:10.1126/science.aay9040 · Cited by 1,379
Polygenic risk scores: from research tools to clinical instruments
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Polygenic background modifies penetrance of monogenic variants for tier 1 genomic conditions
Fahed, A. C., Wang, M., Homburger, J. R., Patel, A. P., Bick, A. G., Neben, C. L., Lai, C., Brockman, D., Philippakis, A., Ellinor, P. T., et al. (2020) · Nature Communications · doi:10.1038/s41467-020-17374-3 · Cited by 455
Responsible use of polygenic risk scores in the clinic: potential benefits, risks and gaps
Polygenic Risk Score Task Force of the International Common Disease Alliance, Adeyemo, A., Balaconis, M. K., Darnes, D. R., Fatumo, S., Granados Moreno, P., Hodonsky, C. J., Inouye, M., Kanai, M., Kato, K., et al. (2021) · Nature Medicine · doi:10.1038/s41591-021-01549-6 · Cited by 413
Personalized early detection and prevention of breast cancer: ENVISION consensus statement
Pashayan, N., Antoniou, A. C., Ivanus, U., Esserman, L. J., Easton, D. F., French, D., Sroczynski, G., Hall, P., Cuzick, J., Evans, D. G., et al. (2020) · Nature Reviews Clinical Oncology · doi:10.1038/s41571-020-0388-9 · Cited by 438
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Metadata
- Authors
- Lee, A., Mavaddat, N., Wilcox, A. N., Cunningham, A. P., Carver, T., Hartley, S., Babb de Villiers, C., Izquierdo, A., Simard, J., Schmidt, M. K., Walter, F. M., Chatterjee, N., Garcia-Closas, M., Tischkowitz, M., Pharoah, P., Easton, D. F., & Antoniou, A. C.
- Venue
- Genetics in Medicine
- Publisher
- Elsevier BV
- Published
- 2019-08
- Volume
- 21
- Issue
- 8
- Pages
- 1708-1718
- ISSN
- 1098-3600 (ISSN-L)
- OpenAlex
- W2909714593
- Cited by
- 721
- References
- 38
- FWCI
- 42.26
- Type
- journal article
- Language
- en
- Open access
- hybrid
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- Lee, A., Mavaddat, N., Wilcox, A. N., Cunningham, A. P., Carver, T., Hartley, S., Babb de Villiers, C., Izquierdo, A., Simard, J., Schmidt, M. K., Walter, F. M., Chatterjee, N., Garcia-Closas, M., Tischkowitz, M., Pharoah, P., Easton, D. F., & Antoniou, A. C. (2019). BOADICEA: a comprehensive breast cancer risk prediction model incorporating genetic and nongenetic risk factors. Genetics in Medicine. https://doi.org/10.1038/s41436-018-0406-9
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