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Polymorphisms in human DNA repair genes and head and neck squamous cell carcinoma

机译:人类DNA修复基因和头颈部鳞状细胞癌的多态性

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摘要

Genetic polymorphisms in some DNA repair proteins are associated with a number of malignant transformations like head and neck squamous cell carcinoma (HNSCC). Xeroderma pigmentosum group D (XPD) and X-ray repair cross-complementing proteins 1 (XRCC1) and 3 (XRCC3) genes are involved in DNA repair and were found to be associated with HNSCC in numerous studies. To establish our overall understanding of possible relationships between DNA repair gene polymorphisms and development of HNSCC, we surveyed the literature on epidemiological studies that assessed potential associations with HNSCC risk in terms of gene-environment interactions, genotype-induced functional defects in enzyme activity and/or protein expression, and the influence of ethnic origin on these associations. We conclude that large, well-designed studies of common polymorphisms in DNA repair genes are needed. Such studies may benefit from analysis of multiple genes or polymorphisms and from the consideration of relevant exposures that may influence the likelihood of HNSCC when DNA repair capacity is reduced.
机译:一些DNA修复蛋白中的遗传多态性与许多恶性转化有关,例如头颈部鳞状细胞癌(HNSCC)。色素干性皮肤干燥D组(XPD)和X射线修复交叉互补蛋白1(XRCC1)和3(XRCC3)基因参与DNA修复,并在许多研究中发现与HNSCC相关。为了建立我们对DNA修复基因多态性与HNSCC发育之间可能关系的整体理解,我们调查了流行病学研究的文献,这些文献从基因-环境相互作用,基因型诱导的酶活性功能缺陷和/或蛋白质表达,以及种族起源对这些关联的影响。我们得出结论,需要对DNA修复基因中常见的多态性进行大型,精心设计的研究。此类研究可能受益于多种基因或多态性的分析,以及考虑了相关暴露的考虑,这些暴露可能会在DNA修复能力降低时影响HNSCC的可能性。

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