Genotype and phenotype correlation in von Hippel–Lindau disease based on alteration of the HIF-α binding site in VHL protein
| Autor: | Kaifang Ma, Jiufeng Zhang, Xiang Peng, Pengjie Wu, Kan Gong, Nienie Qi, Baoan Hong, Shengjie Liu, Jia-Yuan Liu, Shuanghe Peng, Bowen Zhou, Xianghui Ning, Jiangyi Wang, Lin Cai, Jingcheng Zhou, Teng Li |
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| Rok vydání: | 2018 |
| Předmět: |
0301 basic medicine
Mutation business.industry medicine.disease medicine.disease_cause Penetrance Pheochromocytoma 03 medical and health sciences 030104 developmental biology Genotype-phenotype distinction Renal cell carcinoma Cancer research Medicine Missense mutation Von Hippel–Lindau disease business VHL Gene Mutation Genetics (clinical) |
| Zdroj: | Genetics in Medicine. 20:1266-1273 |
| ISSN: | 1098-3600 |
| Popis: | Von Hippel–Lindau (VHL) disease is a rare hereditary cancer syndrome that reduces life expectancy. We aimed to construct a more valuable genotype–phenotype correlation based on alterations in VHL protein (pVHL). VHL patients (n = 339) were recruited and grouped based on mutation types: HIF-α binding site missense (HM) mutations, non-HIF-α binding site missense (nHM) mutations, and truncating (TR) mutations. Age-related risks of VHL-associated tumors and patient survival were compared. Missense mutations conferred an increased risk of pheochromocytoma (HR = 1.854, p = 0.047) compared with truncating mutations. The risk of pheochromocytoma was lower in the HM group than in the nHM group (HR = 0.298, p = 0.003) but was similar between HM and TR groups (HR = 0.901, p = 0.810). Patients in the nHM group had a higher risk of pheochromocytoma (HR = 3.447, p |
| Databáze: | OpenAIRE |
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