Application of breast cancer risk prediction models in clinical practice
Application of breast cancer risk prediction models in clinical practice
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DOI：
10.1200/jco.2003.07.007
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发表时间：
2003-02-15
影响因子：
45.3
通讯作者：
Weber, BL
中科院分区：
文献类型：
--
作者：
Domchek, SM;Eisen, A;Weber, BL
乳腺癌风险评估提供了对疾病风险的估计，可用于指导处于所有风险水平的妇女的管理。此外，可以确定乳腺癌风险是由特定的遗传易感性(如BRCA1或BRCA2突变)引起的可能性。最近的发展加强了乳腺癌风险评估的临床重要性。他莫昔芬的化学预防以及预防研究，如他莫昔芬和雷洛昔芬的研究，可供罹患乳腺癌风险较高的妇女使用。此外，现在还为BRCA1和BRCA2突变携带者定义了具体的管理策略。风险可以评估为患乳腺癌的可能性(使用风险评估模型)或检测到BRCA1或BRCA2突变的可能性(使用先验概率模型)。每一种模型都有优缺点，都需要在上下文中进行解释。我们回顾了可用的风险评估工具，并讨论了它们的应用。如临床实例所示，最佳咨询可能需要使用几种模型以及临床判断，以向妇女及其家人提供最准确和最有用的信息。
Breast cancer risk assessment provides an estimation of disease risk that can be used to guide management for women at all levels of risk. In addition, the likelihood that breast cancer risk is due to specific genetic susceptibility (such as BRCA1 or BRCA2 mutations) can be determined. Recent developments have reinforced the clinical importance of breast cancer risk assessment. Tamoxifen chemoprevention as well as prevention studies such as the Study of Tamoxifen and Raloxifene are available to women at increased risk of developing breast cancer. In addition, specific management strategies are now defined for BRCA1 and BRCA2 mutation carriers. Risk may be assessed as the likelihood of developing breast cancer (using risk assessment models) or as the likelihood of detecting a BRCA1 or BRCA2 mutation (using prior probability models). Each of the models has advantages and disadvantages, and all need to be interpreted in context. We review available risk assessment tools and discuss their application. As illustrated by clinical examples, optimal counseling may require the use of several models, as well as clinical judgment, to provide the most accurate and useful information to women and their families.