TY  - JOUR
AU  - Stanojević, Boban
AU  - Lohse, P.
AU  - Neskovic, G. G.
AU  - Damjanovic, S. M.
AU  - Novkovic, T. B.
AU  - Jovanović-Ćupić, Snežana P.
AU  - Dimitrijević, Bogomir B.
PY  - 2007
UR  - https://vinar.vin.bg.ac.rs/handle/123456789/3319
AB  - Von Hippel-Lindau (VHL) disease is an autosomal dominantly inherited cancer predisposition syndrome due to germline mutations in the VHL tumor suppressor gene which is associated with virtually complete penetrance. The VHL syndrome has a highly variable phenotypic expressivity including retinal and CNS haemanioblastomas, pheochromocytomas, renal clear cell carcinomas, and multifocal cysts. In order to establish VHL gene testing, we analyzed three families affected by VHL disease, using SSCP mutation screening and DNA sequencing. Among 18 family members with and without clinical manifestations, eight cases with germline VHL mutations were detected. In family A, a c.490G GT T/ p.Gly93Cys substitution was found. In family 13, with pheochromocytoma only phenotype, we detected a previously not described c.463G GT A/p.Val84Met replacement. Within this family, a prenatal diagnosis was also performed. Affected members of the third family with a VHL type I disease carried a c.475T GT C/p.Trp88Arg exchange. All these mutations were located in exon 1 of the VHL tumor suppressor gene. Alterations in this hydrophobic region of the core beta domain of the VHL protein are known to have a variety of phenotypic consequences. We observed also intrafamiliar variation in time of onset and severity of the disease.
T2  - Neoplasma
T1  - Germline VHL gene mutations in three Serbian families with von Hippel-Lindau disease
VL  - 54
IS  - 5
SP  - 402
EP  - 406
UR  - https://hdl.handle.net/21.15107/rcub_vinar_3319
ER  - 

@article{
author = "Stanojević, Boban and Lohse, P. and Neskovic, G. G. and Damjanovic, S. M. and Novkovic, T. B. and Jovanović-Ćupić, Snežana P. and Dimitrijević, Bogomir B.",
year = "2007",
abstract = "Von Hippel-Lindau (VHL) disease is an autosomal dominantly inherited cancer predisposition syndrome due to germline mutations in the VHL tumor suppressor gene which is associated with virtually complete penetrance. The VHL syndrome has a highly variable phenotypic expressivity including retinal and CNS haemanioblastomas, pheochromocytomas, renal clear cell carcinomas, and multifocal cysts. In order to establish VHL gene testing, we analyzed three families affected by VHL disease, using SSCP mutation screening and DNA sequencing. Among 18 family members with and without clinical manifestations, eight cases with germline VHL mutations were detected. In family A, a c.490G GT T/ p.Gly93Cys substitution was found. In family 13, with pheochromocytoma only phenotype, we detected a previously not described c.463G GT A/p.Val84Met replacement. Within this family, a prenatal diagnosis was also performed. Affected members of the third family with a VHL type I disease carried a c.475T GT C/p.Trp88Arg exchange. All these mutations were located in exon 1 of the VHL tumor suppressor gene. Alterations in this hydrophobic region of the core beta domain of the VHL protein are known to have a variety of phenotypic consequences. We observed also intrafamiliar variation in time of onset and severity of the disease.",
journal = "Neoplasma",
title = "Germline VHL gene mutations in three Serbian families with von Hippel-Lindau disease",
volume = "54",
number = "5",
pages = "402-406",
url = "https://hdl.handle.net/21.15107/rcub_vinar_3319"
}

Stanojević, B., Lohse, P., Neskovic, G. G., Damjanovic, S. M., Novkovic, T. B., Jovanović-Ćupić, S. P.,& Dimitrijević, B. B.. (2007). Germline VHL gene mutations in three Serbian families with von Hippel-Lindau disease. in Neoplasma, 54(5), 402-406.
https://hdl.handle.net/21.15107/rcub_vinar_3319

Stanojević B, Lohse P, Neskovic GG, Damjanovic SM, Novkovic TB, Jovanović-Ćupić SP, Dimitrijević BB. Germline VHL gene mutations in three Serbian families with von Hippel-Lindau disease. in Neoplasma. 2007;54(5):402-406.
https://hdl.handle.net/21.15107/rcub_vinar_3319 .

Stanojević, Boban, Lohse, P., Neskovic, G. G., Damjanovic, S. M., Novkovic, T. B., Jovanović-Ćupić, Snežana P., Dimitrijević, Bogomir B., "Germline VHL gene mutations in three Serbian families with von Hippel-Lindau disease" in Neoplasma, 54, no. 5 (2007):402-406,
https://hdl.handle.net/21.15107/rcub_vinar_3319 .