Loss of the actin regulator HSPC300 results in clear cell renal cell carcinoma protection in Von Hippel-Lindau patients
✍ Scribed by Alberto Cascón; Beatriz Escobar; Cristina Montero-Conde; Cristina Rodríguez-Antona; Sergio Ruiz-Llorente; Ana Osorio; Fátima Mercadillo; Rocío Letón; José M. Campos; José M. García-Sagredo; Javier Benítez; Marcos Malumbres; Mercedes Robledo
- Publisher
- John Wiley and Sons
- Year
- 2007
- Tongue
- English
- Weight
- 433 KB
- Volume
- 28
- Category
- Article
- ISSN
- 1059-7794
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✦ Synopsis
Communicated by Michel
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## Abstract It has been documented that renal cell carcinomas (RCCs) occur frequently in patients treated with long‐term dialysis, especially in cases of end‐stage renal disease (ESRD)/acquired cystic disease of the kidney (ACDK). To address the molecular pathogenesis of ESRD/ACDK‐associated RCCs,
Inactivation of tumour suppressor gene(s) (TSGs) on 3p appears to be a critical event in the pathogenesis of clear cell renal cell carcinoma (CC-RCC). Analysis of loss of heterozygosity (LOH) in sporadic RCC samples has implicated roles for TSGs in three specific regions of 3p in RCC development: (1
Germline mutations in the von Hippel-Lindau (VHL) disease tumor suppressor gene (TSG) convey a high risk of clear-cell renal-cell carcinoma (CC-RCC) and most sporadic CC-RCCs demonstrate somatic inactivation of the VHL TSG. However, the existence of further CC-RCC gatekeeper genes is implied by CC-R