Polygenes, risk prediction, and targeted prevention of breast cancer
Polygenes, risk prediction, and targeted prevention of breast cancer
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DOI：
10.1056/nejmsa0708739
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发表时间：
2008-06-26
影响因子：
158.5
通讯作者：
Ponder, Bruce A. J.
中科院分区：
文献类型：
--
作者：
Pharoah, Paul D. P.;Antoniou, Antonis C.;Ponder, Bruce A. J.
背景资料：在复杂疾病中寻找易感等位基因的新进展为多基因方法预防和治疗常见疾病的可能性提供了支持。方法：我们研究了基于常见遗传变异的乳腺癌风险的发现对个体化疾病预防和公共卫生政策的影响。结果：我们的分析表明，由已知的、常见的、中等风险的等位基因产生的风险特征不能提供足够的区分来保证个体化预防。然而，有用的风险分层可能是可能的，在一般population.Conclusions的疾病预防计划的背景下：临床使用的单一，常见的，低风险的基因是有限的，但一些易感性等位基因可能区分妇女谁是乳腺癌的高风险，从那些谁是在低风险，特别是在人口筛查的背景下。
Background: New developments in the search for susceptibility alleles in complex disorders provide support for the possibility of a polygenic approach to the prevention and treatment of common diseases.Methods: We examined the implications, both for individualized disease prevention and for public health policy, of findings concerning the risk of breast cancer that are based on common genetic variation.Results: Our analysis suggests that the risk profile generated by the known, common, moderate-risk alleles does not provide sufficient discrimination to warrant individualized prevention. However, useful risk stratification may be possible in the context of programs for disease prevention in the general population.Conclusions: The clinical use of single, common, low-penetrance genes is limited, but a few susceptibility alleles may distinguish women who are at high risk for breast cancer from those who are at low risk, particularly in the context of population screening.