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

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

doi:10.1016/j.ejmg.2009.05.007

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

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

A.O.U. San Martino - IST, Istituto Nazionale Ricerca sul Cancro (GENOVA)

Research output: Contribution to journal › Article › peer-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 language	English
Pages (from-to)	311-314
Number of pages	4
Journal	European Journal of Medical Genetics
Volume	52
Issue number	5
DOIs	https://doi.org/10.1016/j.ejmg.2009.05.007
Publication status	Published - Sep 2009

Keywords

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

ASJC Scopus subject areas

Genetics
Genetics(clinical)

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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.",

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author = "Paola Ciotti and Anna Garuti and Rossella Gulli and Alberto Ballestrero and Emilia Bellone and Paola Mandich",

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AU - Garuti, Anna

AU - Gulli, Rossella

AU - Ballestrero, Alberto

AU - Bellone, Emilia

AU - Mandich, Paola

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AB - 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.

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