Klin Onkol 2006; 19(Suppl): 82-84.
Summary
Hereditary predisposition to renal cancer is less frequent than predisposition to breast or colon cancer. Few autosomal dominant disorders are known where renal cancer is a part of clinical manifestation, but not as a key diagnostic sign. The most important syndromes are von Hippel-Lindau disease caused by mutations in VHL gene and tuberous sclerosis caused by mutations in TSC1 or TSC2 genes. Rare syndromes include hereditary papillary renal cancer, caused by mutations in MET gene, hereditary leiomyomatosis/renal cell cancer, caused by mutations in FH gene, and Birt-Hogg-Dubé syndrome caused by mutations in BHD gene. Genetic testing is routinely performed only in von Hippel-Lindau disease and tuberous sclerosis. Some new candidate loci have been identified by the analysis of breakpoints of chromosomal translocations observed in renal cancer.
