title: Genetic and clinical aspects of familial renal neoplasms.
abstract: Genetic studies of families at high risk for developing malignant and benign renal neoplasms led to cloning of genes whose alteration results in tumor formation. These genes are either tumor suppressors (VHL, TSC) or oncogenes (MET). Their significance in understanding oncogenesis extends far beyond the familial syndromes. The identification of these genes and the elucidation of their biochemical functions are likely to facilitate (1) our understanding of the full clinical spectrum of the corresponding diseases, (2) genetic counseling, and (3) rational design of effective strategies to prevent and/or treat familial and sporadic forms of these neoplasms.
authors.affiliation: Department of Adult Oncology, Dana-Farber Cancer Institute and Harvard Medical School, Boston, MA 02115, USA.
authors.forename: O
authors.initials: O
authors.lastname: Iliopoulos
authors.forename: C
authors.initials: C
authors.lastname: Eng
mesh_terms: D000818:Animals; D002292:Carcinoma, Renal Cell / Q000235:genetics* / Q000473:pathology; D003001:Cloning, Molecular; D000075065:Elongin; D016147:Genes, Tumor Suppressor; D005838:Genotype; D006801:Humans; D052177:Kidney Diseases, Cystic / Q000235:genetics; D007680:Kidney Neoplasms / Q000235:genetics* / Q000473:pathology; D008025:Ligases; D008875:Middle Aged; D008957:Models, Genetic; D009154:Mutation; D010673:Pheochromocytoma / Q000235:genetics / Q000473:pathology; D011506:Proteins / Q000235:genetics / Q000502:physiology; D013577:Syndrome; D014157:Transcription Factors / Q000235:genetics; D016212:Transforming Growth Factor beta / Q000235:genetics / Q000502:physiology; D014402:Tuberous Sclerosis / Q000235:genetics; D025521:Tumor Suppressor Proteins; D044767:Ubiquitin-Protein Ligases; D051794:Von Hippel-Lindau Tumor Suppressor Protein; D006623:von Hippel-Lindau Disease / Q000235:genetics
chemical_list: D000075065:Elongin; D011506:Proteins; D014157:Transcription Factors; D016212:Transforming Growth Factor beta; D025521:Tumor Suppressor Proteins; D044767:Ubiquitin-Protein Ligases; D051794:Von Hippel-Lindau Tumor Suppressor Protein; D008025:Ligases; C497446:VHL protein, human