The emerging landscape of breast cancer susceptibility
The emerging landscape of breast cancer susceptibility
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DOI：
10.1038/ng.2007.53
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发表时间：
2008-01-01
期刊：
影响因子：
30.8
通讯作者：
Rahman, Nazneen
中科院分区：
文献类型：
--
作者：
Stratton, Michael R.;Rahman, Nazneen
乳腺癌遗传易感性的遗传基础在过去的二十年里一直在进行不懈的研究，并成为最近几项发现的主题。在人群中具有不同风险和患病率水平的三种合理定义的乳腺癌易感性等位基因类别已经变得明显：罕见的高等位基因，罕见的中等位基因和常见的低等位基因。每种成分对乳腺癌易感性的贡献仍有待充分探索，与之相关的癌症的表型特征，它们相互作用的方式，它们的大部分生物学和临床用途也有待充分探索。这些最新进展预示着探索乳腺癌易感性的新篇章，并可能提供与其他常见异质性疾病相关的见解。
The genetic basis of inherited predisposition to breast cancer has been assiduously investigated for the past two decades and has been the subject of several recent discoveries. Three reasonably well-defined classes of breast cancer susceptibility alleles with different levels of risk and prevalence in the population have become apparent: rare high-penetrance alleles, rare moderate-penetrance alleles and common low-penetrance alleles. The contribution of each component to breast cancer predisposition is still to be fully explored, as are the phenotypic characteristics of the cancers associated with them, the ways in which they interact, much of their biology and their clinical utility. These recent advances herald a new chapter in the exploration of susceptibility to breast cancer and are likely to provide insights relevant to other common, heterogeneous diseases.