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中文摘要：
乳腺癌是可遗传的肿瘤，特别是遗传倾向乳腺癌和遗传背景密切相关；鉴定高外显易感基因的突变或低外显易感基因的多态性位点是目前乳腺癌遗传学研究的热点之一。现就近年来乳腺癌易感基因的遗传学研究及基因变异的筛查技术进展作一综述。
英文摘要：
Breast cancer is known as a heritable malignancy,familial and hereditary breast cancer is more attributed to inherent genetic background. As one of research hotspots in the breast cancer genetics area,to identify high-penetrance gene mutations and low-penetranee genes polymorphisms helps to fully define breast cancer risk and put new insight into breast cancer susceptibility. This review will address the research advancement in genetic studies of breast cancer susceptibility as well as the screening methods for gene mutations.
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