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Development of a Breast Cancer Risk Prediction Model Incorporating Polygenic Risk Scores and Nongenetic Risk Factors for Korean Women

BACKGROUND: To develop a breast cancer prediction model for Korean women using published polygenic risk scores (PRS) combined with nongenetic risk factors (NGRF). METHODS: Thirteen PRS models generated from single or multiple combinations of the Asian and European PRSs were evaluated among 20,434 Ko...

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Autores principales: Choi, Jihye, Ha, Tae-Woong, Choi, Hye-Mi, Lee, Han-Byoel, Shin, Hee-Chul, Chung, Woosung, Han, Wonshik
Formato: Online Artículo Texto
Lenguaje:English
Publicado: American Association for Cancer Research 2023
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10472098/
https://www.ncbi.nlm.nih.gov/pubmed/37310812
http://dx.doi.org/10.1158/1055-9965.EPI-23-0064
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author Choi, Jihye
Ha, Tae-Woong
Choi, Hye-Mi
Lee, Han-Byoel
Shin, Hee-Chul
Chung, Woosung
Han, Wonshik
author_facet Choi, Jihye
Ha, Tae-Woong
Choi, Hye-Mi
Lee, Han-Byoel
Shin, Hee-Chul
Chung, Woosung
Han, Wonshik
author_sort Choi, Jihye
collection PubMed
description BACKGROUND: To develop a breast cancer prediction model for Korean women using published polygenic risk scores (PRS) combined with nongenetic risk factors (NGRF). METHODS: Thirteen PRS models generated from single or multiple combinations of the Asian and European PRSs were evaluated among 20,434 Korean women. The AUC and increase in OR per SD were compared for each PRS. The PRSs with the highest predictive power were combined with NGRFs; then, an integrated prediction model was established using the Individualized Coherent Absolute Risk Estimation (iCARE) tool. The absolute breast cancer risk was stratified for 18,142 women with available follow-up data. RESULTS: PRS(38_ASN)+PRS(190_EB), a combination of Asian and European PRSs, had the highest AUC (0.621) among PRSs, with an OR per SD increase of 1.45 (95% confidence interval: 1.31–1.61). Compared with the average risk group (35%–65%), women in the top 5% had a 2.5-fold higher risk of breast cancer. Incorporating NGRFs yielded a modest increase in the AUC of women ages >50 years. For PRS(38_ASN)+PRS(190_EB)+NGRF, the average absolute risk was 5.06%. The lifetime absolute risk at age 80 years for women in the top 5% was 9.93%, whereas that of women in the lowest 5% was 2.22%. Women at higher risks were more sensitive to NGRF incorporation. CONCLUSIONS: Combined Asian and European PRSs were predictive of breast cancer in Korean women. Our findings support the use of these models for personalized screening and prevention of breast cancer. IMPACT: Our study provides insights into genetic susceptibility and NGRFs for predicting breast cancer in Korean women.
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spelling pubmed-104720982023-09-02 Development of a Breast Cancer Risk Prediction Model Incorporating Polygenic Risk Scores and Nongenetic Risk Factors for Korean Women Choi, Jihye Ha, Tae-Woong Choi, Hye-Mi Lee, Han-Byoel Shin, Hee-Chul Chung, Woosung Han, Wonshik Cancer Epidemiol Biomarkers Prev Research Articles BACKGROUND: To develop a breast cancer prediction model for Korean women using published polygenic risk scores (PRS) combined with nongenetic risk factors (NGRF). METHODS: Thirteen PRS models generated from single or multiple combinations of the Asian and European PRSs were evaluated among 20,434 Korean women. The AUC and increase in OR per SD were compared for each PRS. The PRSs with the highest predictive power were combined with NGRFs; then, an integrated prediction model was established using the Individualized Coherent Absolute Risk Estimation (iCARE) tool. The absolute breast cancer risk was stratified for 18,142 women with available follow-up data. RESULTS: PRS(38_ASN)+PRS(190_EB), a combination of Asian and European PRSs, had the highest AUC (0.621) among PRSs, with an OR per SD increase of 1.45 (95% confidence interval: 1.31–1.61). Compared with the average risk group (35%–65%), women in the top 5% had a 2.5-fold higher risk of breast cancer. Incorporating NGRFs yielded a modest increase in the AUC of women ages >50 years. For PRS(38_ASN)+PRS(190_EB)+NGRF, the average absolute risk was 5.06%. The lifetime absolute risk at age 80 years for women in the top 5% was 9.93%, whereas that of women in the lowest 5% was 2.22%. Women at higher risks were more sensitive to NGRF incorporation. CONCLUSIONS: Combined Asian and European PRSs were predictive of breast cancer in Korean women. Our findings support the use of these models for personalized screening and prevention of breast cancer. IMPACT: Our study provides insights into genetic susceptibility and NGRFs for predicting breast cancer in Korean women. American Association for Cancer Research 2023-09-01 2023-06-13 /pmc/articles/PMC10472098/ /pubmed/37310812 http://dx.doi.org/10.1158/1055-9965.EPI-23-0064 Text en ©2023 The Authors; Published by the American Association for Cancer Research https://creativecommons.org/licenses/by-nc-nd/4.0/This open access article is distributed under the Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 International (CC BY-NC-ND 4.0) license.
spellingShingle Research Articles
Choi, Jihye
Ha, Tae-Woong
Choi, Hye-Mi
Lee, Han-Byoel
Shin, Hee-Chul
Chung, Woosung
Han, Wonshik
Development of a Breast Cancer Risk Prediction Model Incorporating Polygenic Risk Scores and Nongenetic Risk Factors for Korean Women
title Development of a Breast Cancer Risk Prediction Model Incorporating Polygenic Risk Scores and Nongenetic Risk Factors for Korean Women
title_full Development of a Breast Cancer Risk Prediction Model Incorporating Polygenic Risk Scores and Nongenetic Risk Factors for Korean Women
title_fullStr Development of a Breast Cancer Risk Prediction Model Incorporating Polygenic Risk Scores and Nongenetic Risk Factors for Korean Women
title_full_unstemmed Development of a Breast Cancer Risk Prediction Model Incorporating Polygenic Risk Scores and Nongenetic Risk Factors for Korean Women
title_short Development of a Breast Cancer Risk Prediction Model Incorporating Polygenic Risk Scores and Nongenetic Risk Factors for Korean Women
title_sort development of a breast cancer risk prediction model incorporating polygenic risk scores and nongenetic risk factors for korean women
topic Research Articles
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10472098/
https://www.ncbi.nlm.nih.gov/pubmed/37310812
http://dx.doi.org/10.1158/1055-9965.EPI-23-0064
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