Article
Clinical and molecular characterization of Brazilian families with von Hippel-Lindau disease: a need for delineating genotype-phenotype correlation.
Familial cancer - 1 Dec 2010
Gomy Israel, Molfetta Greice Andreotti, de Andrade Barreto Ester, Ferreira Cristiane Ayres, Zanette Dalila Luciola, Casali-da-Rocha José Cláudio, Silva Wilson Araujo
Abstract excerpt
von Hippel-Lindau (VHL) disease is an autosomal dominant hereditary cancer syndrome that predisposes to the development of a variety of benign and malignant tumours, especially cerebellar haemangioblastomas, retinal angiomas and clear-cell renal cell carcinomas (RCC). The etiology and manifestations are due to germline and somatic mutations in the VHL tumour suppressor gene. VHL disease is classified into type 1...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.