Novel genetic characterisation and phenotype correlation in von Hippel-Lindau (VHL) disease based on the Elongin C binding site: a large retrospective study

The highlight of this study is that, based on the current largest VHL patient database and blood sample bank in China, the impact of different gene mutation types of VHL disease on tumor risk and prognosis was analyzed for the first time from the perspective of the Elongin C binding site mutation (EM). This study found EM could be served as an independent predictor of tumor risk and prognosis in VHL patients. Moreover, this study provides an important reference for clinical decision-making and genetic counseling for VHL patients and further complements the existing VHL genotype-phenotype correlation study. (By Dr. Haibiao Xie, https://jmg.bmj.com/content/early/2020/04/17/jmedgenet-2019-106336 )

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