TY - JOUR
T1 - Germline mutations in the von Hippel-Lindau gene in Italian patients
AU - Ciotti, Paola
AU - Garuti, Anna
AU - Gulli, Rossella
AU - Ballestrero, Alberto
AU - Bellone, Emilia
AU - Mandich, Paola
PY - 2009/9
Y1 - 2009/9
N2 - 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.
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.
KW - RQ-PCR
KW - VHL germline mutations
KW - von Hippel-Lindau (VHL) disease
UR - http://www.scopus.com/inward/record.url?scp=69049083361&partnerID=8YFLogxK
UR - http://www.scopus.com/inward/citedby.url?scp=69049083361&partnerID=8YFLogxK
U2 - 10.1016/j.ejmg.2009.05.007
DO - 10.1016/j.ejmg.2009.05.007
M3 - Article
C2 - 19464396
AN - SCOPUS:69049083361
VL - 52
SP - 311
EP - 314
JO - European Journal of Medical Genetics
JF - European Journal of Medical Genetics
SN - 1769-7212
IS - 5
ER -