von Hippel-Lindau (VHL) disease is an autosomal-dominant familial cancer syndrome
associated with mutations of the VHL tumor suppressor gene (3p25-26). Its estimated …

Abstract Von Hippel-Lindau (VHL) disease is a tumor predisposition syndrome caused by
mutations in the VHL gene that presents with visceral neoplasms and growths, including …

VHL is mutated in the majority of patients with clear cell renal cell carcinoma (ccRCC), with
conflicting clinical relevance. Recent studies have identified recurrent mutations in histone …

The introduction of next-generation sequencing (NGS) technology in testing for hereditary
cancer susceptibility allows testing of multiple cancer susceptibility genes simultaneously …

Mutations in hereditary cancer syndromes account for a modest fraction of all cancers;
however, identifying patients with these germline mutations offers tremendous health …

Abstract Purpose Von Hippel–Lindau (VHL) disease is a rare hereditary cancer syndrome
that reduces life expectancy. We aimed to construct a more valuable genotype–phenotype …

The autosomal dominant von Hippel‐Lindau disease (vHL) is associated with a lifelong risk
of tumor development, especially retinal and CNS hemangioblastomas, pheochromocytoma …

Materials and methods The study population consisted of 626 patients who were referred for
colonoscopy screening at the University Hospitals Health System (UHHS) from January …

Pheochromocytomas (PCCs) and paragangliomas (PGLs) are rare neuroendocrine tumors
that arise from the adrenal medulla or from the extra-adrenal sympathetic and …

Von Hippel–Lindau (VHL) disease is a rare autosomal-dominant inherited tumor syndrome.
We aimed to analyze the correlations between frequent VHL mutations and phenotypes in …