Cyclin D1 genotype and expression in sporadic hemangioblastomas.

摘要: Central nervous system (CNS) hemangioblastomas are highly-vascularized tumors occurring in sporadic form or as a manifestation of von Hippel–Lindau disease (VHL). The VHL protein (pVHL) regulates various target genes, one which is the CCND1 gene, encoding cyclin D1, that plays critical role control cell cycle. Overexpression D1 found many cancers. gene contains common G → A polymorphism (870G > A) enhances alternative splicing gene. genotype associated with clinical outcome number cancers although prognostic significance varies tumor type. In disease, has been suggested genetic modifier influences susceptibility to hemangioblastomas.