Genetic techniques in the diagnosis of carcinomas of the kidney

The term "carcinoma of the kidney" includes four types of cancer with distinct morphological and cytogenetic characteristics. It is likely that each type of kidney carcinoma is caused by mutation in a different gene. Families with inherited carcinomas of the kidney provide a guide to the isolation of these genes. The gene responsible for the commonest form of kidney carcinoma has been isolated by study of families with von Hippel-Lindau disease (VHL). The VHL gene is mutated in the commonest form of kidney carcinoma and in the germ line of patients with VHL. The VHL gene is a powerful tool for the study of the biology and diagnosis of kidney cancer.