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乳腺癌风险模型:现有模型的全面概述、验证及临床应用。

Breast cancer risk models: a comprehensive overview of existing models, validation, and clinical applications.

机构信息

Division of Surgical Oncology, Massachusetts General Hospital, Boston, MA, USA.

Department of Biostatistics, Harvard University T H Chan School of Public Health, Boston, MA, USA.

出版信息

Breast Cancer Res Treat. 2017 Jul;164(2):263-284. doi: 10.1007/s10549-017-4247-z. Epub 2017 Apr 25.

Abstract

Numerous models have been developed to quantify the combined effect of various risk factors to predict either risk of developing breast cancer, risk of carrying a high-risk germline genetic mutation, specifically in the BRCA1 and BRCA2 genes, or the risk of both. These breast cancer risk models can be separated into those that utilize mainly hormonal and environmental factors and those that focus more on hereditary risk. Given the wide range of models from which to choose, understanding what each model predicts, the populations for which each is best suited to provide risk estimations, the current validation and comparative studies that have been performed for each model, and how to apply them practically is important for clinicians and researchers seeking to utilize risk models in their practice. This review provides a comprehensive guide for those seeking to understand and apply breast cancer risk models by summarizing the majority of existing breast cancer risk prediction models including the risk factors they incorporate, the basic methodology in their development, the information each provides, their strengths and limitations, relevant validation studies, and how to access each for clinical or investigative purposes.

摘要

已经开发出许多模型来量化各种风险因素的综合影响,以预测乳腺癌的发病风险、携带高风险种系基因突变(特别是 BRCA1 和 BRCA2 基因)的风险,或两者兼有的风险。这些乳腺癌风险模型可分为主要利用激素和环境因素的模型,以及更侧重于遗传风险的模型。鉴于有多种模型可供选择,了解每个模型的预测内容、每个模型最适合提供风险估计的人群、每个模型已进行的当前验证和比较研究,以及如何实际应用这些模型,对于寻求在实践中使用风险模型的临床医生和研究人员来说非常重要。本综述通过总结大多数现有的乳腺癌风险预测模型,为那些希望理解和应用乳腺癌风险模型的人提供了全面的指南,包括它们所包含的风险因素、其开发的基本方法、每个模型提供的信息、它们的优势和局限性、相关验证研究,以及如何为临床或研究目的访问每个模型。

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