Large deletion causing von Hippel-Lindau disease and hereditary breast cancer syndrome

Large deletion causing von Hippel-Lindau disease and hereditary breast cancer syndrome

Patients with intragenic mutations of the VHL gene have a typical disease presentation. However in cases of large VHL gene deletions which involve other genes in the proximity of the VHL gene a presentation of the disease can be different. To investigate whether large VHL deletions that remove the FANCD2 gene have an effect on the disease phenotype, we studied a family with a 50 kb large deleti...

von-Hippel Lindau (VHL) hereditary cancer syndrome

Hereditary Cancer: Lessons from Von Hippel-Lindau Disease

S June 4th – 6th, 2006 Hotel Jerome Aspen, Colorado Progress: From Bench to Bedside Platform & Poster Presentations

[von Hippel-Lindau syndrome].

LABORATORY DATA adrenal changes phaeochromocytoma adrenal cortex hormones adrenal insufficiency, adrenal hypoplasia aldosterone, high levels chromosomal assignment chromosome 11q localization chromosome 3p localization gene, structural-functional anomalies CCND1 (PRAD1) cyclin D1, gene chr.11q13 gene analysis-DNA analysis ST11 (PETS1), gene chr.3p25 VHL von Hippel-Lindau syndrome, gene chr.3p26...

Von Hippel-Lindau Syndrome.

Von Hippel-Lindau (VHL) disease is a hereditary cancer syndrome characterized by the development of multiple vascular tumours. The syndrome is caused by inactivation of the VHL protein (pVHL) and increased production of VEGF, PDGF, and TGF-α. The course of VHL syndrome is associated with the development of multiple vascular tumours. Most frequently, these include retinal and central nervous sys...