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Familial adult renal neoplasia Takahashi M; Kahnoski R; Gross D; Nicol D; Teh BTJ Med Genet 2002[Jan]; 39 (1): 1-5Our understanding of the molecular mechanisms underlying the tumorigenesis of renal cell carcinoma (RCC) has partially come from studies of RCC related familial cancer syndromes such as von Hippel-Lindau (VHL) disease and hereditary papillary RCC (HPRC). These studies have led to the identification of RCC related genes, which, besides allowing accurate diagnosis of these diseases, have been found mutated or abnormally expressed in the sporadic counterparts of these familial renal tumours. To date, a number of renal tumour related syndromes have been described. We review recent advances in this field and discuss a genetic approach to managing familial cases of renal tumours occasionally encountered by cancer geneticists and urologists.|*Carcinoma, Papillary/genetics/pathology[MESH]|*Carcinoma, Renal Cell/genetics/pathology[MESH]|*Kidney Neoplasms/genetics/pathology[MESH]|*von Hippel-Lindau Disease/genetics/pathology[MESH]|Adult[MESH]|Genotype[MESH]|Humans[MESH]|Phenotype[MESH] |
