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单核苷酸多态性:子宫内膜癌的一个新风险因素?

Single nucleotide polymorphism: a new risk factor for endometrial cancer?

作者信息

Kang Sokbom, Roh Ju Won, Kim Jae Weon

机构信息

Research Institute and Hospital, Center for Cervical Cancer, National Cancer Center, Goyang, Gyeonggi, 411-764, Korea.

出版信息

Future Oncol. 2005 Jun;1(3):323-30. doi: 10.1517/14796694.1.3.323.

DOI:10.1517/14796694.1.3.323
PMID:16556006
Abstract

Continuous identification of common polymorphisms in various genes helps us to understand the possible association between endometrial cancer risk and the germline polymorphism. Estrogen receptor genes and the group of genes associated with the metabolism of estrogen have been investigated well. Second, the polymorphism in the p53 gene and the genes involved in its downstream pathway were correlated to a risk of developing endometrial cancer. Finally, the polymorphism in the genes involved in cellular proliferation and differentiation, regulating cell cycles, and DNA-damage repair were studied. In this way, recent research has begun to identify common genetic polymorphisms that augment the effects of risk-factor exposure, such as genes that affect the metabolism of hormones or are involved in cellular anti-tumor activities. The accumulation of data through these approaches would make genetic testing for the risk of development of endometrial cancer possible in the near future.

摘要

持续鉴定各种基因中的常见多态性有助于我们了解子宫内膜癌风险与种系多态性之间的可能关联。雌激素受体基因以及与雌激素代谢相关的基因群已得到充分研究。其次,p53基因及其下游通路中相关基因的多态性与子宫内膜癌发生风险相关。最后,对参与细胞增殖与分化、调节细胞周期以及DNA损伤修复的基因中的多态性进行了研究。通过这种方式,近期研究已开始鉴定出一些常见的基因多态性,这些多态性会增强风险因素暴露的影响,比如影响激素代谢或参与细胞抗肿瘤活性的基因。通过这些方法积累的数据将使在不久的将来对子宫内膜癌发生风险进行基因检测成为可能。

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