Article
Comparison of clinical characteristics between patients with single mutation and co-mutation in hereditary renal cancer: a retrospective analysis of 115 patients with von Hippel-Lindau syndrome.
Journal of medical genetics - 25 May 2026
Liu Tao, Liu Haode, Deng Ruiyi, Jianhui Qiu, Zhang Zedan, Wang Chuandong, Bao Yuhang, Chen Xiaolin, Song Zheng, He Tianyi, Cai Lin, Wang Yizhou, Zhou Jingcheng, Gong Kan
Abstract excerpt
PURPOSE: von Hippel-Lindau (VHL) syndrome-related renal cell carcinoma (RCC) is the most prevalent hereditary RCC and exhibits clinical heterogeneity, complicating patient management. While VHL gene inactivation is the primary driver, the impact of co-occurring germline mutations in other renal cancer predisposition genes on clinical phenotype remains poorly understood. This study aimed to investigate whether...
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