CD44 内含子 1 中的独特 SNP 及其在乳腺癌发展中的作用。
Unique SNP in CD44 intron 1 and its role in breast cancer development.
机构信息
Department of Pathology, Microbiology and Immunology, School of Medicine, University of South Carolina, Columbia, SC 29209, USA.
出版信息
Anticancer Res. 2010 Apr;30(4):1263-72.
Abstract
In the current study, we investigated if CD44 polymorphisms are associated with increased susceptibility to breast cancer. Direct nucleotide sequencing analysis identified a novel and unique single nucleotide polymorphism (SNP, designated as CD44 Ex2+14 A>G) in the CD44 intron 1 region in 84% of breast cancer patients, which was significantly higher than that seen in normal donors. Moreover, the breast cancer patients with homozygous unique SNP in CD44 intron 1 had breast cancer at earlier ages, larger tumor burden, more regional lymph node metastases at the time of diagnosis, and higher cancer recurrence rate. There was a strong association between the unique SNP in CD44 intron 1 and CD44 expression on peripheral blood mononuclear cells. Our results suggest that CD44 polymorphism is associated with breast cancer development, and CD44 polymorphism analysis may be effectively used in the risk assessment, prediction, prevention, diagnosis and genetic epidemiological analysis of breast cancer.
摘要
在本研究中，我们研究了 CD44 多态性是否与乳腺癌易感性增加有关。直接核苷酸测序分析在 84%的乳腺癌患者的 CD44 内含子 1 区域中发现了一种新的独特的单核苷酸多态性（SNP，命名为 CD44 Ex2+14 A>G），显著高于正常供体中的发现。此外，CD44 内含子 1 中纯合独特 SNP 的乳腺癌患者发病年龄更早，肿瘤负荷更大，诊断时区域淋巴结转移更多，癌症复发率更高。CD44 内含子 1 中的独特 SNP 与外周血单个核细胞上的 CD44 表达之间存在很强的关联。我们的研究结果表明，CD44 多态性与乳腺癌的发生有关，CD44 多态性分析可能有效地用于乳腺癌的风险评估、预测、预防、诊断和遗传流行病学分析。
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