Comparative validation of the BOADICEA and Tyrer-Cuzick breast cancer risk models incorporating classical risk factors and polygenic risk in a population-based prospective cohort of women of European ancestry
Abstract Background The Breast and Ovarian Analysis of Disease Incidence and Carrier Estimation Algorithm (BOADICEA) and the Tyrer-Cuzick breast cancer risk prediction models are commonly used in clinical practice and have recently been extended to include polygenic risk scores (PRS). In addition, B...
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doaj-9f5b0db1bde94118998806fb003e3b962021-02-21T12:29:32ZengBMCBreast Cancer Research1465-542X2021-02-012311510.1186/s13058-021-01399-7Comparative validation of the BOADICEA and Tyrer-Cuzick breast cancer risk models incorporating classical risk factors and polygenic risk in a population-based prospective cohort of women of European ancestryParichoy Pal Choudhury0Mark N. Brook1Amber N. Hurson2Andrew Lee3Charlotta V. Mulder4Penny Coulson5Minouk J. Schoemaker6Michael E. Jones7Anthony J. Swerdlow8Nilanjan Chatterjee9Antonis C. Antoniou10Montserrat Garcia-Closas11Division of Cancer Epidemiology and Genetics, National Cancer Institute of HealthDivision of Genetics and Epidemiology, The Institute of Cancer ResearchDivision of Cancer Epidemiology and Genetics, National Cancer Institute of HealthDepartment of Public Health and Primary Care, Centre for Cancer Genetic Epidemiology, University of CambridgeDivision of Cancer Epidemiology and Genetics, National Cancer Institute of HealthDivision of Genetics and Epidemiology, The Institute of Cancer ResearchDivision of Genetics and Epidemiology, The Institute of Cancer ResearchDivision of Genetics and Epidemiology, The Institute of Cancer ResearchDivision of Genetics and Epidemiology, The Institute of Cancer ResearchDepartment of Biostatistics, The Johns Hopkins UniversityDepartment of Public Health and Primary Care, Centre for Cancer Genetic Epidemiology, University of CambridgeDivision of Cancer Epidemiology and Genetics, National Cancer Institute of HealthAbstract Background The Breast and Ovarian Analysis of Disease Incidence and Carrier Estimation Algorithm (BOADICEA) and the Tyrer-Cuzick breast cancer risk prediction models are commonly used in clinical practice and have recently been extended to include polygenic risk scores (PRS). In addition, BOADICEA has also been extended to include reproductive and lifestyle factors, which were already part of Tyrer-Cuzick model. We conducted a comparative prospective validation of these models after incorporating the recently developed 313-variant PRS. Methods Calibration and discrimination of 5-year absolute risk was assessed in a nested case-control sample of 1337 women of European ancestry (619 incident breast cancer cases) aged 23–75 years from the Generations Study. Results The extended BOADICEA model with reproductive/lifestyle factors and PRS was well calibrated across risk deciles; expected-to-observed ratio (E/O) at the highest risk decile :0.97 (95 % CI 0.51 − 1.86) for women younger than 50 years and 1.09 (0.66 − 1.80) for women 50 years or older. Adding reproductive/lifestyle factors and PRS to the BOADICEA model improved discrimination modestly in younger women (area under the curve (AUC) 69.7 % vs. 69.1%) and substantially in older women (AUC 64.6 % vs. 56.8%). The Tyrer-Cuzick model with PRS showed evidence of overestimation at the highest risk decile: E/O = 1.54(0.81 − 2.92) for younger and 1.73 (1.03 − 2.90) for older women. Conclusion The extended BOADICEA model identified women in a European-ancestry population at elevated breast cancer risk more accurately than the Tyrer-Cuzick model with PRS. With the increasing availability of PRS, these analyses can inform choice of risk models incorporating PRS for risk stratified breast cancer prevention among women of European ancestry.https://doi.org/10.1186/s13058-021-01399-7Absolute riskBOADICEABreast cancerIBISModel validationProspective cohort |
collection |
DOAJ |
language |
English |
format |
Article |
sources |
DOAJ |
author |
Parichoy Pal Choudhury Mark N. Brook Amber N. Hurson Andrew Lee Charlotta V. Mulder Penny Coulson Minouk J. Schoemaker Michael E. Jones Anthony J. Swerdlow Nilanjan Chatterjee Antonis C. Antoniou Montserrat Garcia-Closas |
spellingShingle |
Parichoy Pal Choudhury Mark N. Brook Amber N. Hurson Andrew Lee Charlotta V. Mulder Penny Coulson Minouk J. Schoemaker Michael E. Jones Anthony J. Swerdlow Nilanjan Chatterjee Antonis C. Antoniou Montserrat Garcia-Closas Comparative validation of the BOADICEA and Tyrer-Cuzick breast cancer risk models incorporating classical risk factors and polygenic risk in a population-based prospective cohort of women of European ancestry Breast Cancer Research Absolute risk BOADICEA Breast cancer IBIS Model validation Prospective cohort |
author_facet |
Parichoy Pal Choudhury Mark N. Brook Amber N. Hurson Andrew Lee Charlotta V. Mulder Penny Coulson Minouk J. Schoemaker Michael E. Jones Anthony J. Swerdlow Nilanjan Chatterjee Antonis C. Antoniou Montserrat Garcia-Closas |
author_sort |
Parichoy Pal Choudhury |
title |
Comparative validation of the BOADICEA and Tyrer-Cuzick breast cancer risk models incorporating classical risk factors and polygenic risk in a population-based prospective cohort of women of European ancestry |
title_short |
Comparative validation of the BOADICEA and Tyrer-Cuzick breast cancer risk models incorporating classical risk factors and polygenic risk in a population-based prospective cohort of women of European ancestry |
title_full |
Comparative validation of the BOADICEA and Tyrer-Cuzick breast cancer risk models incorporating classical risk factors and polygenic risk in a population-based prospective cohort of women of European ancestry |
title_fullStr |
Comparative validation of the BOADICEA and Tyrer-Cuzick breast cancer risk models incorporating classical risk factors and polygenic risk in a population-based prospective cohort of women of European ancestry |
title_full_unstemmed |
Comparative validation of the BOADICEA and Tyrer-Cuzick breast cancer risk models incorporating classical risk factors and polygenic risk in a population-based prospective cohort of women of European ancestry |
title_sort |
comparative validation of the boadicea and tyrer-cuzick breast cancer risk models incorporating classical risk factors and polygenic risk in a population-based prospective cohort of women of european ancestry |
publisher |
BMC |
series |
Breast Cancer Research |
issn |
1465-542X |
publishDate |
2021-02-01 |
description |
Abstract Background The Breast and Ovarian Analysis of Disease Incidence and Carrier Estimation Algorithm (BOADICEA) and the Tyrer-Cuzick breast cancer risk prediction models are commonly used in clinical practice and have recently been extended to include polygenic risk scores (PRS). In addition, BOADICEA has also been extended to include reproductive and lifestyle factors, which were already part of Tyrer-Cuzick model. We conducted a comparative prospective validation of these models after incorporating the recently developed 313-variant PRS. Methods Calibration and discrimination of 5-year absolute risk was assessed in a nested case-control sample of 1337 women of European ancestry (619 incident breast cancer cases) aged 23–75 years from the Generations Study. Results The extended BOADICEA model with reproductive/lifestyle factors and PRS was well calibrated across risk deciles; expected-to-observed ratio (E/O) at the highest risk decile :0.97 (95 % CI 0.51 − 1.86) for women younger than 50 years and 1.09 (0.66 − 1.80) for women 50 years or older. Adding reproductive/lifestyle factors and PRS to the BOADICEA model improved discrimination modestly in younger women (area under the curve (AUC) 69.7 % vs. 69.1%) and substantially in older women (AUC 64.6 % vs. 56.8%). The Tyrer-Cuzick model with PRS showed evidence of overestimation at the highest risk decile: E/O = 1.54(0.81 − 2.92) for younger and 1.73 (1.03 − 2.90) for older women. Conclusion The extended BOADICEA model identified women in a European-ancestry population at elevated breast cancer risk more accurately than the Tyrer-Cuzick model with PRS. With the increasing availability of PRS, these analyses can inform choice of risk models incorporating PRS for risk stratified breast cancer prevention among women of European ancestry. |
topic |
Absolute risk BOADICEA Breast cancer IBIS Model validation Prospective cohort |
url |
https://doi.org/10.1186/s13058-021-01399-7 |
work_keys_str_mv |
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