Germline mutations in the von Hippel-Lindau gene in Italian patients

Paola Ciotti, Anna Garuti, Rossella Gulli, Alberto Ballestrero, Emilia Bellone, Paola Mandich

Research output: Contribution to journalArticlepeer-review

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.

Original languageEnglish
Pages (from-to)311-314
Number of pages4
JournalEuropean Journal of Medical Genetics
Volume52
Issue number5
DOIs
Publication statusPublished - Sep 2009

Keywords

  • RQ-PCR
  • VHL germline mutations
  • von Hippel-Lindau (VHL) disease

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)

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