title: Germline mutations in the von Hippel-Lindau gene in Italian patients.
abstract: von Hippel-Lindau syndrome (VHL) is a dominantly inherited familial cancer syndrome predisposing to a variety of malignant and benign tumours, most frequently retinal, cerebellar, and spinal hemangioblastoma, renal cell carcinoma, pheochromocytoma, and pancreatic tumours. The current study investigated the occurrence of VHL mutations in Italian patients with classic VHL disease or with atypical VHL-like clinical features referred to the Service of Medical Genetics for VHL molecular diagnosis. In addition, an RQ-PCR protocol was validated in order to introduce it in the routine VHL laboratory diagnosis.
authors.affiliation: Department of Neuroscience, Ophthalmology, and Genetics - Section of Medical Genetics, University of Genova and the Unit of Medical Genetics, Azienda Ospedaliera Universitaria San Martino of Genova, viale Benedetto xv 6, Genova, Italy. paola.ciotti@unige.it
authors.forename: Paola
authors.initials: P
authors.lastname: Ciotti
authors.forename: Anna
authors.initials: A
authors.lastname: Garuti
authors.forename: Rossella
authors.initials: R
authors.lastname: Gulli
authors.forename: Alberto
authors.initials: A
authors.lastname: Ballestrero
authors.forename: Emilia
authors.initials: E
authors.lastname: Bellone
authors.forename: Paola
authors.initials: P
authors.lastname: Mandich
mesh_terms: D015331:Cohort Studies; D004247:DNA / Q000235:genetics / Q000302:isolation & purification; D004252:DNA Mutational Analysis; D017353:Gene Deletion; D005796:Genes; D018095:Germ-Line Mutation; D006801:Humans; D007558:Italy; D016133:Polymerase Chain Reaction; D015203:Reproducibility of Results; D012680:Sensitivity and Specificity; D051794:Von Hippel-Lindau Tumor Suppressor Protein / Q000235:genetics*; D006623:von Hippel-Lindau Disease / Q000175:diagnosis / Q000235:genetics*
chemical_list: D004247:DNA; D051794:Von Hippel-Lindau Tumor Suppressor Protein; C497446:VHL protein, human