ONLINE MUTATION REPORT Germline mutations in the von Hippel-Lindau (VHL) gene in patients from Poland: disease presentation in patients with deletions of the entire VHL gene
نویسندگان
چکیده
C Cybulski, K Krzystolik, A Murgia, B Górski, T Dębniak, A Jakubowska, M Martella, G Kurzawski, M Prost, I Kojder, J Limon, P Nowacki, L Sagan, B Białas, J Kałuża, M Zdunek, A Omulecka, D Jaskólski, E Kostyk, B Koraszewska-Matuszewska, O Haus, H Janiszewska, K Pecold, M Starzycka, R Słomski, M Cuwirko, A Sikorski , B Gliniewicz, L Cyryłowski, Ł Fiszer-Maliszewska, J Gronwald, A Tołoczko-Grabarek, S Zajączek, J Lubiński . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . .
منابع مشابه
Improved Detection of Germline Mutations in Korean VHL Patients by Multiple Ligation-dependent Probe Amplification Analysis
von Hippel-Lindau (VHL) disease is an autosomal dominant inherited tumor syndrome characterized by the development of tumors in the eye, brain, spinal cord, inner ear, adrenal gland, pancreas, kidney, and epididymis, associated with germline mutations in the VHL gene. We used sequentially sequencing method and multiple ligation-dependent probe amplification (MLPA) analysis and detected germline...
متن کاملThe impact of molecular genetic analysis of the VHL gene in patients with haemangioblastomas of the central nervous system.
OBJECTIVES Haemangioblastoma of the CNS occurs as a sporadic entity and as a manifestation of the autosomal dominant von Hippel-Lindau disease with the major additional components retinal angioma, renal cancer, and pheochromocytoma. Genetic testing for germline mutations predisposing to von Hippel-Lindau disease has been available since identification of the VHL tumour suppressor gene. The impa...
متن کاملGermline VHL gene mutations in Hungarian families with von Hippel-Lindau disease and patients with apparently sporadic unilateral pheochromocytomas.
OBJECTIVE Von Hippel-Lindau (VHL) disease is a hereditary tumor syndrome caused by mutations or deletions of the VHL tumor-suppressor gene. Germline VHL gene alterations may be also present in patients with apparently sporadic pheochromocytoma (ASP), although a wide variation in mutation frequencies has been reported in different patient cohorts. DESIGN Herein, we report the analysis of the V...
متن کاملGermline mutations in the Von Hippel-Lindau (VHL) gene
Introduction Von Hippel-Lindau (VHL) disease is a complex, autosomal, dominant inherited disorder, variably presenting with retinal and cerebellar haemangioblastoma, renal cell carcinoma, phaeochromocytoma and endolymphatic sac tumours. Cysts and cystadenoma may develop in kidney, pancreas and epididymis. Germline mutations in the VHL tumour suppressor gene are found in most of the families ful...
متن کاملMosaicism in von Hippel-Lindau disease with severe renal manifestations.
von Hippel-Lindau (VHL) disease is an inheritable multisystem tumor syndrome characterized by multiple benign and malignant tumors affecting multiple organs. VHL is the result of a germline mutation in the VHL tumor suppressor gene. Molecular genomic analysis routinely confirms the clinical diagnosis. However, the use of molecular diagnostic methods can often be insufficient for the detection o...
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