Publications by authors named "Helene Le Jeune"
Background: Many cases of familial renal cell carcinoma (RCC) remain unexplained by mutations in the known predisposing genes or shared environmental factors. There are therefore additional, still unidentified genes involved in familial RCC. PBRM1 is a tumour suppressor gene and somatic mutations are found in 30-45% of sporadic clear cell (cc) RCC.
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- * Mutations in the von Hippel-Lindau (VHL) gene lead to various conditions, with specific mutations like R200W causing Chuvash polycythemia in homozygotes, while heterozygotes can develop VHL disease with multiple tumor risks.
- * A family with two VHL mutations (R200W and R161Q) was studied to show that the severity of disease in VHL syndrome directly aligns with the dysfunction of the VHL protein in hypoxia signaling, supporting the continuum model in human cases.