Polygenic risk score-based prediction of breast cancer risk in Taiwanese women with dense breast using a retrospective cohort study
Abstract Mammographic screening has contributed to a significant reduction in breast cancer mortality. Several studies have highlighted the correlation between breast density, as detected through mammography, and a higher likelihood of developing breast cancer. A polygenic risk score (PRS) is a nume...
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Nature Portfolio
2024-03-01
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| Series: | Scientific Reports |
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| Online Access: | https://doi.org/10.1038/s41598-024-55976-9 |
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| author | Chih-Chiang Hung Sin-Hua Moi Hsin-I Huang Tzu-Hung Hsiao Chi-Cheng Huang |
| author_facet | Chih-Chiang Hung Sin-Hua Moi Hsin-I Huang Tzu-Hung Hsiao Chi-Cheng Huang |
| author_sort | Chih-Chiang Hung |
| collection | DOAJ |
| description | Abstract Mammographic screening has contributed to a significant reduction in breast cancer mortality. Several studies have highlighted the correlation between breast density, as detected through mammography, and a higher likelihood of developing breast cancer. A polygenic risk score (PRS) is a numerical score that is calculated based on an individual's genetic information. This study aims to explore the potential roles of PRS as candidate markers for breast cancer development and investigate the genetic profiles associated with clinical characteristics in Asian females with dense breasts. This is a retrospective cohort study integrated breast cancer screening, population genotyping, and cancer registry database. The PRSs of the study cohort were estimated using genotyping data of 77 single nucleotide polymorphisms based on the PGS000001 Catalog. A subgroup analysis was conducted for females without breast symptoms. Breast cancer patients constituted a higher proportion of individuals in PRS Q4 (37.8% vs. 24.8% in controls). Among dense breast patients with no symptoms, the high PRS group (Q4) consistently showed a significantly elevated breast cancer risk compared to the low PRS group (Q1–Q3) in both univariate (OR = 2.25, 95% CI 1.43–3.50, P < 0.001) and multivariate analyses (OR: 2.23; 95% CI 1.41–3.48, P < 0.001). The study was extended to predict breast cancer risk using common low-penetrance risk variants in a PRS model, which could be integrated into personalized screening strategies for Taiwanese females with dense breasts without prominent symptoms. |
| first_indexed | 2024-04-24T23:07:06Z |
| format | Article |
| id | doaj.art-881540cfbec245be9d4783baf3102af3 |
| institution | Directory Open Access Journal |
| issn | 2045-2322 |
| language | English |
| last_indexed | 2024-04-24T23:07:06Z |
| publishDate | 2024-03-01 |
| publisher | Nature Portfolio |
| record_format | Article |
| series | Scientific Reports |
| spelling | doaj.art-881540cfbec245be9d4783baf3102af32024-03-17T12:25:03ZengNature PortfolioScientific Reports2045-23222024-03-011411910.1038/s41598-024-55976-9Polygenic risk score-based prediction of breast cancer risk in Taiwanese women with dense breast using a retrospective cohort studyChih-Chiang Hung0Sin-Hua Moi1Hsin-I Huang2Tzu-Hung Hsiao3Chi-Cheng Huang4Division of Breast Surgery, Department of Surgery, Taichung Veterans General HospitalGraduate Institute of Clinical Medicine, College of Medicine, Kaohsiung Medical UniversityDepartment of Information Management, National Sun Yat-Sen UniversityDepartment of Public Health, Fu Jen Catholic UniversityDivision of Breast Surgery, Department of Surgery, Taipei Veterans General HospitalAbstract Mammographic screening has contributed to a significant reduction in breast cancer mortality. Several studies have highlighted the correlation between breast density, as detected through mammography, and a higher likelihood of developing breast cancer. A polygenic risk score (PRS) is a numerical score that is calculated based on an individual's genetic information. This study aims to explore the potential roles of PRS as candidate markers for breast cancer development and investigate the genetic profiles associated with clinical characteristics in Asian females with dense breasts. This is a retrospective cohort study integrated breast cancer screening, population genotyping, and cancer registry database. The PRSs of the study cohort were estimated using genotyping data of 77 single nucleotide polymorphisms based on the PGS000001 Catalog. A subgroup analysis was conducted for females without breast symptoms. Breast cancer patients constituted a higher proportion of individuals in PRS Q4 (37.8% vs. 24.8% in controls). Among dense breast patients with no symptoms, the high PRS group (Q4) consistently showed a significantly elevated breast cancer risk compared to the low PRS group (Q1–Q3) in both univariate (OR = 2.25, 95% CI 1.43–3.50, P < 0.001) and multivariate analyses (OR: 2.23; 95% CI 1.41–3.48, P < 0.001). The study was extended to predict breast cancer risk using common low-penetrance risk variants in a PRS model, which could be integrated into personalized screening strategies for Taiwanese females with dense breasts without prominent symptoms.https://doi.org/10.1038/s41598-024-55976-9Breast cancerDense breastPolygenic risk scoreGenotypingPrecision screening |
| spellingShingle | Chih-Chiang Hung Sin-Hua Moi Hsin-I Huang Tzu-Hung Hsiao Chi-Cheng Huang Polygenic risk score-based prediction of breast cancer risk in Taiwanese women with dense breast using a retrospective cohort study Scientific Reports Breast cancer Dense breast Polygenic risk score Genotyping Precision screening |
| title | Polygenic risk score-based prediction of breast cancer risk in Taiwanese women with dense breast using a retrospective cohort study |
| title_full | Polygenic risk score-based prediction of breast cancer risk in Taiwanese women with dense breast using a retrospective cohort study |
| title_fullStr | Polygenic risk score-based prediction of breast cancer risk in Taiwanese women with dense breast using a retrospective cohort study |
| title_full_unstemmed | Polygenic risk score-based prediction of breast cancer risk in Taiwanese women with dense breast using a retrospective cohort study |
| title_short | Polygenic risk score-based prediction of breast cancer risk in Taiwanese women with dense breast using a retrospective cohort study |
| title_sort | polygenic risk score based prediction of breast cancer risk in taiwanese women with dense breast using a retrospective cohort study |
| topic | Breast cancer Dense breast Polygenic risk score Genotyping Precision screening |
| url | https://doi.org/10.1038/s41598-024-55976-9 |
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