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基因的单核苷酸多态性与乳腺癌关系的研究进展
引用本文:陈诗哲,马天骏,周文琪,李金明,郭艳芳.基因的单核苷酸多态性与乳腺癌关系的研究进展[J].现代生物医学进展,2014,14(22):4382-4385.
作者姓名:陈诗哲  马天骏  周文琪  李金明  郭艳芳
作者单位:南方医科大学第一临床医学院八年制;南方医科大学基础医学院生物信息学系
基金项目:国家自然基金面上项目(31371290);广东省高校人才引进专业(粤财字2011-430)
摘    要:乳腺癌是女性发病率最高的恶性肿瘤,具有家族聚集性,其发生发展是一个复杂的过程,涉及多种不同基因的相互作用和相互调控。随着基因技术和分子生物技术的飞速发展,许多基因被揭示在乳腺癌的发生发展中起关键作用,如BRCA、FGFR、ATM、ZNF365、Pokemon基因等。基于流行病学研究,这些易感基因可被分为高外显率易感基因和低外显率易感基因,其多态性对乳腺癌具有重要的影响。对乳腺癌易感基因的研究有助于阐明乳腺癌的发生机制、发展过程,对其早期诊断、预后判断和良恶性鉴别也有着重要的意义,可为乳腺癌的临床生物基因靶向治疗提供新的靶点和理论基础。本文主要对这些基因的单核苷酸多态性与乳腺癌关系的研究进展进行了综述。

关 键 词:乳腺癌组织  单核苷酸多态性  基因突变  乳腺癌易感基因  研究进展  细胞周期  预后判断  外显率  密切相关  发生发展

Research Progress on the Correlation of Single Nucleotide Polymorphism of Genes with Breast Cancer
CHEN Shi-zhe,MA Tian-jun,ZHOU Wen-qi,LI Jin-ming,GUO Yan-fang.Research Progress on the Correlation of Single Nucleotide Polymorphism of Genes with Breast Cancer[J].Progress in Modern Biomedicine,2014,14(22):4382-4385.
Authors:CHEN Shi-zhe  MA Tian-jun  ZHOU Wen-qi  LI Jin-ming  GUO Yan-fang
Abstract:Breast cancer has the highest incidence of female cancers. Breast cancer shows familial aggregation and its development is a complex process, involving the interaction of different genes and their regulation. With the rapid development of gene technology and molecular biological technology, many of the genes were revealed to play a key role in the occurrence of breast cancer, including BRCA, FGFR, ATM, ZNF365, Pokemon gene, etc. Based on the epidemiological studies, the susceptible genes can be divided into high penetrance and low penetrance susceptible genes. Susceptible genes greatly influence the breast cancer. Researches on the identification of susceptibility genes of breast cancer will deeply contribute to clarify its pathogenesis, development, early diagnosis, prognosis, and benign and malignant, and also provide new targets and theoretical basis for the clinical biological gene targeted therapy. Therefore, research on breast cancer susceptible gene is of great significance to the development of medicine, and the susceptible gene detection has received more and more attention of the researchers. This article mainly reviews the correlation of single nucleotide polymorphismof these susceptible genes with breast Cancer.
Keywords:SNP  Breast cancer  BRCA  FGFR  ATM  ZNF365  Pokemon
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