Krishna Dipp-Martin , Sandra Karina Santuario-Facio , Rocío Ortiz-Lopez , Rafael Argüello-Astorga , Faviel Francisco González-Galarza
{"title":"乳腺癌的多基因风险评分:风险预测和亚型识别的现代方法。","authors":"Krishna Dipp-Martin , Sandra Karina Santuario-Facio , Rocío Ortiz-Lopez , Rafael Argüello-Astorga , Faviel Francisco González-Galarza","doi":"10.1016/j.arcmed.2025.103319","DOIUrl":null,"url":null,"abstract":"<div><div>Breast cancer (BC), a complex disease characterized by the uncontrolled proliferation of breast cells, poses a major global health challenge. Its increasing prevalence is influenced by a combination of genetic, environmental, and lifestyle factors. While hereditary mutations in high-risk genes contribute to only a small percentage of cases, the majority may be influenced by common genetic variations that collectively determine individual susceptibility. The polygenic risk score (PRS) has emerged as a transformative tool that leverages the cumulative effects of multiple genetic variants to improve risk prediction beyond traditional single-gene models. When integrated with conventional risk factors, such as age, reproductive history, and modifiable lifestyle behaviors, PRS offers a more comprehensive approach to personalized risk assessment. Recent studies highlight its potential to guide targeted screening strategies, early interventions, and precision prevention efforts. This review provides insight into current PRS research and its clinical applications in BC risk stratification. It also explores the promise of PRS in shaping the future of precision oncology.</div></div>","PeriodicalId":8318,"journal":{"name":"Archives of Medical Research","volume":"57 3","pages":"Article 103319"},"PeriodicalIF":3.4000,"publicationDate":"2025-09-18","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":"{\"title\":\"Polygenic Risk Scores for Breast Cancer: Modern Approaches to Risk Prediction and Subtype Identification\",\"authors\":\"Krishna Dipp-Martin , Sandra Karina Santuario-Facio , Rocío Ortiz-Lopez , Rafael Argüello-Astorga , Faviel Francisco González-Galarza\",\"doi\":\"10.1016/j.arcmed.2025.103319\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"<div><div>Breast cancer (BC), a complex disease characterized by the uncontrolled proliferation of breast cells, poses a major global health challenge. Its increasing prevalence is influenced by a combination of genetic, environmental, and lifestyle factors. While hereditary mutations in high-risk genes contribute to only a small percentage of cases, the majority may be influenced by common genetic variations that collectively determine individual susceptibility. The polygenic risk score (PRS) has emerged as a transformative tool that leverages the cumulative effects of multiple genetic variants to improve risk prediction beyond traditional single-gene models. When integrated with conventional risk factors, such as age, reproductive history, and modifiable lifestyle behaviors, PRS offers a more comprehensive approach to personalized risk assessment. Recent studies highlight its potential to guide targeted screening strategies, early interventions, and precision prevention efforts. This review provides insight into current PRS research and its clinical applications in BC risk stratification. It also explores the promise of PRS in shaping the future of precision oncology.</div></div>\",\"PeriodicalId\":8318,\"journal\":{\"name\":\"Archives of Medical Research\",\"volume\":\"57 3\",\"pages\":\"Article 103319\"},\"PeriodicalIF\":3.4000,\"publicationDate\":\"2025-09-18\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"\",\"citationCount\":\"0\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"Archives of Medical Research\",\"FirstCategoryId\":\"3\",\"ListUrlMain\":\"https://www.sciencedirect.com/science/article/pii/S0188440925001390\",\"RegionNum\":3,\"RegionCategory\":\"医学\",\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"\",\"PubModel\":\"\",\"JCR\":\"Q1\",\"JCRName\":\"MEDICINE, RESEARCH & EXPERIMENTAL\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"Archives of Medical Research","FirstCategoryId":"3","ListUrlMain":"https://www.sciencedirect.com/science/article/pii/S0188440925001390","RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"Q1","JCRName":"MEDICINE, RESEARCH & EXPERIMENTAL","Score":null,"Total":0}
Polygenic Risk Scores for Breast Cancer: Modern Approaches to Risk Prediction and Subtype Identification
Breast cancer (BC), a complex disease characterized by the uncontrolled proliferation of breast cells, poses a major global health challenge. Its increasing prevalence is influenced by a combination of genetic, environmental, and lifestyle factors. While hereditary mutations in high-risk genes contribute to only a small percentage of cases, the majority may be influenced by common genetic variations that collectively determine individual susceptibility. The polygenic risk score (PRS) has emerged as a transformative tool that leverages the cumulative effects of multiple genetic variants to improve risk prediction beyond traditional single-gene models. When integrated with conventional risk factors, such as age, reproductive history, and modifiable lifestyle behaviors, PRS offers a more comprehensive approach to personalized risk assessment. Recent studies highlight its potential to guide targeted screening strategies, early interventions, and precision prevention efforts. This review provides insight into current PRS research and its clinical applications in BC risk stratification. It also explores the promise of PRS in shaping the future of precision oncology.
期刊介绍:
Archives of Medical Research serves as a platform for publishing original peer-reviewed medical research, aiming to bridge gaps created by medical specialization. The journal covers three main categories - biomedical, clinical, and epidemiological contributions, along with review articles and preliminary communications. With an international scope, it presents the study of diseases from diverse perspectives, offering the medical community original investigations ranging from molecular biology to clinical epidemiology in a single publication.