There are several hereditary conditions which predispose to kidney cancer, also referred to as renal cell carcinoma/cancer (RCC). Click on the links below for a short overview of each syndrome and references for further information. Some of the conditions mentioned here are so rare that the only source of information may be technical medical literature.
Additionally, as these conditions are rare, they are often misdiagnosed. Typically, someone who has one of the described hereditary syndromes will not display all the symptoms for that syndrome. Nor, for example, is it obvious that the various symptoms shown by members of one family are all linked. It may take affected individuals a long time, and numerous visits to many specialists, to finally get the correct diagnosis. While this situation is frustrating, the most useful action you can take is to learn more about conditions you suspect you have and let your doctor know your specific concerns. For most hereditary syndromes the most conclusive diagnosis is genetic testing; information on diagnosis for each syndrome is given below.
If you know you have RCC, it is important to know if it is hereditary because other family members may be affected. Screening and treatment of RCC may also vary according to the underlying cause. A few people can also develop mutations in the genes associated with hereditary RCC syndromes spontaneously/de novo (‘out of the blue’, without a prior familial mutation) and so may not suspect that their mutation may be passed down to their children. However, it is important to know that most cases of RCC are not inherited; the information presented here relates only to inherited RCC.
This section will describe:
- Von-Hippel Lindau Disease
- Hereditary Leiomyomatosis Renal Cell Carcinoma
- Hereditary Papillary Renal Cell Carcinoma – Type 1
- Tuberous Sclerosis
- Polycystic Kidney Disease
- Renal Cell Carcinoma with Hereditary Paraganglioma
- Chromosome 3 Translocations
- Familial Renal Oncocytoma
- Familial Renal Carcinoma
Publication date: September 2012
Review date: September 2014