Characterization of VHL missense mutations in sporadic clear cell renal cell carcinoma: hotspots, affected binding domains, functional impact on pVHL and therapeutic relevance
作者: Caroline RazafinjatovoSvenja BihrAxel MischoUrsula VoglManuela SchmidingerHolger MochPeter Schraml
作者单位: 1University Hospital Zurich
2St. Joseph Hospital Vienna
3Medical University of Vienna
刊名: BMC Cancer, 2016, Vol.16 (1)
来源数据库: Springer Journal
DOI: 10.1186/s12885-016-2688-0
关键词: Clear cell renal cell carcinomaVHLMissense mutationsBinding domainspVHL stabilityTherapy
英文摘要: Abstract(#br) Background(#br)The VHL protein (pVHL) is a multiadaptor protein that interacts with more than 30 different binding partners involved in many oncogenic processes. About 70 % of clear cell renal cell carcinoma (ccRCC) have VHL mutations with varying impact on pVHL function. Loss of pVHL function leads to the accumulation of Hypoxia Inducible Factor (HIF), which is targeted by current targeted treatments. In contrast to nonsense and frameshift mutations that highly likely nullify pVHL multipurpose functions, missense mutations may rather specifically influence the binding capability of pVHL to its partners. The affected pathways may offer predictive clues to therapy and response to treatment. In this study we focused on the VHL missense mutation pattern in ccRCC, and studied...
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来源刊物:
影响因子:3.333 (2012)

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关键词翻译
关键词翻译
  • functional 功能的
  • hotspots 热点
  • binding 装订
  • missense 错义
  • sporadic 零星的
  • affected 受了影响的
  • therapeutic 治疗的
  • renal 肾的
  • clear 昧的
  • carcinoma 癌症