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.

Details

Title
Polygenic risk score-based prediction of breast cancer risk in Taiwanese women with dense breast using a retrospective cohort study
Author
Hung, Chih-Chiang 1 ; Moi, Sin-Hua 2 ; Huang, Hsin-I 3 ; Hsiao, Tzu-Hung 4 ; Huang, Chi-Cheng 5 

 Taichung Veterans General Hospital, Division of Breast Surgery, Department of Surgery, Taichung, Taiwan (GRID:grid.410764.0) (ISNI:0000 0004 0573 0731); Hung Kuang University, Department of Applied Cosmetology, College of Human Science and Social Innovation, Taichung, Taiwan (GRID:grid.411432.1) (ISNI:0000 0004 1770 3722); National Chung Hsing University, College of Life Sciences, Taichung, Taiwan (GRID:grid.260542.7) (ISNI:0000 0004 0532 3749) 
 Kaohsiung Medical University, Graduate Institute of Clinical Medicine, College of Medicine, Kaohsiung, Taiwan (GRID:grid.412019.f) (ISNI:0000 0000 9476 5696); Kaohsiung Medical University, Research Center for Precision Environmental Medicine, Kaohsiung, Taiwan (GRID:grid.412019.f) (ISNI:0000 0000 9476 5696); Kaohsiung Medical University, Department of Medical Research, Kaohsiung Medical University Hospital, Kaohsiung, Taiwan (GRID:grid.412019.f) (ISNI:0000 0000 9476 5696) 
 National Sun Yat-Sen University, Department of Information Management, Kaohsiung, Taiwan (GRID:grid.412036.2) (ISNI:0000 0004 0531 9758); INC, International Integrated Systems, Kaohsiung, Taiwan (GRID:grid.412036.2) 
 Fu Jen Catholic University, Department of Public Health, New Taipei City, Taiwan (GRID:grid.256105.5) (ISNI:0000 0004 1937 1063); National Chung Hsing University, Institute of Genomics and Bioinformatics, Taichung, Taiwan (GRID:grid.260542.7) (ISNI:0000 0004 0532 3749); Taichung Veterans General Hospital, Department of Medical Research, Taichung, Taiwan (GRID:grid.410764.0) (ISNI:0000 0004 0573 0731) 
 Taipei Veterans General Hospital, Division of Breast Surgery, Department of Surgery, Taipei, Taiwan (GRID:grid.278247.c) (ISNI:0000 0004 0604 5314); National Taiwan University, Institute of Epidemiology and Preventive Medicine, College of Public Health, Taipei City, Taiwan (GRID:grid.19188.39) (ISNI:0000 0004 0546 0241) 
Pages
6324
Publication year
2024
Publication date
2024
Publisher
Nature Publishing Group
e-ISSN
20452322
Source type
Scholarly Journal
Language of publication
English
ProQuest document ID
2957627528
Copyright
© The Author(s) 2024. This work is published under http://creativecommons.org/licenses/by/4.0/ (the “License”). Notwithstanding the ProQuest Terms and Conditions, you may use this content in accordance with the terms of the License.