دورية أكاديمية
Incorporating Alternative Polygenic Risk Scores into the BOADICEA Breast Cancer Risk Prediction Model. ...
| العنوان: | Incorporating Alternative Polygenic Risk Scores into the BOADICEA Breast Cancer Risk Prediction Model. ... |
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| المؤلفون: | Mavaddat, Nasim, Ficorella, Lorenzo, Carver, Tim, Lee, Andrew, Cunningham, Alex P, Lush, Michael, Dennis, Joe, Tischkowitz, Marc, Downes, Kate, Hu, Donglei, Hahnen, Eric, Schmutzler, Rita K, Stockley, Tracy L, Downs, Gregory S, Zhang, Tong, Chiarelli, Anna M, Bojesen, Stig E, Liu, Cong, Chung, Wendy K, Pardo, Monica, Feliubadaló, Lidia, Balmaña, Judith, Simard, Jacques, Antoniou, Antonis C, Easton, Douglas F |
| بيانات النشر: | American Association for Cancer Research (AACR) |
| سنة النشر: | 2023 |
| المجموعة: | DataCite Metadata Store (German National Library of Science and Technology) |
| مصطلحات موضوعية: | Humans, Female, Breast Neoplasms, Risk Assessment, Retrospective Studies, Risk Factors, Genetic Predisposition to Disease, Polymorphism, Single Nucleotide |
| الوصف: | BACKGROUND: The multifactorial risk prediction model BOADICEA enables identification of women at higher or lower risk of developing breast cancer. BOADICEA models genetic susceptibility in terms of the effects of rare variants in breast cancer susceptibility genes and a polygenic component, decomposed into an unmeasured and a measured component - the polygenic risk score (PRS). The current version was developed using a 313 SNP PRS. Here, we evaluated approaches to incorporating this PRS and alternative PRS in BOADICEA. METHODS: The mean, SD, and proportion of the overall polygenic component explained by the PRS (α2) need to be estimated. $\alpha $ was estimated using logistic regression, where the age-specific log-OR is constrained to be a function of the age-dependent polygenic relative risk in BOADICEA; and using a retrospective likelihood (RL) approach that models, in addition, the unmeasured polygenic component. RESULTS: Parameters were computed for 11 PRS, including 6 variations of the 313 SNP PRS used ... |
| نوع الوثيقة: | article in journal/newspaper |
| اللغة: | English |
| العلاقة: | https://dx.doi.org/10.1101/2022.07.08.22276452Test |
| DOI: | 10.17863/cam.92095 |
| الإتاحة: | https://doi.org/10.17863/cam.9209510.1101/2022.07.08.22276452Test https://www.repository.cam.ac.uk/handle/1810/344671Test |
| حقوق: | open.access ; Creative Commons Attribution 4.0 International ; https://creativecommons.org/licenses/by/4.0/legalcodeTest ; cc-by-4.0 ; http://purl.org/coar/access_right/c_abf2Test |
| رقم الانضمام: | edsbas.11823547 |
| قاعدة البيانات: | BASE |
| DOI: | 10.17863/cam.92095 |
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