title: Multifocal renal cell carcinoma in sibs from a chromosome 9 linked (TSC1) tuberous sclerosis family.
abstract: Multifocal renal cell carcinomas (RCCs), together with angiomyolipomas (AMLs) and renal cysts, were identified in early adult life in two sisters with tuberous sclerosis (TSC). They were members of a multigenerational tuberous sclerosis family showing strong evidence for a mutant TSC causing gene on chromosome 9 (TSC1). Previous reports of multifocal RCC in young patients with TSC suggest that constitutional mutations at the TSC loci may predispose to RCC. In the rat a germline mutation affecting the TSC2 gene is associated with transmission of multifocal RCC as an autosomal dominant trait. However, the cases reported here are the first to suggest a similar role for the TSC1 gene in renal cell carcinogenesis.
authors.affiliation: Institute of Medical Genetics, University of Wales College of Medicine, Cardiff, UK.
authors.forename: J R
authors.initials: JR
authors.lastname: Sampson
authors.forename: A
authors.initials: A
authors.lastname: Patel
authors.forename: A D
authors.initials: AD
authors.lastname: Mee
mesh_terms: D018262:Adenocarcinoma, Clear Cell / Q000235:genetics; D000328:Adult; D018207:Angiomyolipoma / Q000235:genetics; D000818:Animals; D002292:Carcinoma, Renal Cell / Q000235:genetics*; D002899:Chromosomes, Human, Pair 9 / Q000235:genetics*; D005260:Female; D005799:Genes, Dominant; D006801:Humans; D007680:Kidney Neoplasms / Q000235:genetics*; D008126:Lod Score; D009378:Neoplasms, Multiple Primary / Q000235:genetics; D009857:Oncogenes; D051381:Rats; D014402:Tuberous Sclerosis / Q000235:genetics*