Other causes of hereditary kidney cancer

Hereditary kidney cancer is estimated to account for 5-8% of all kidney cancers (1). Non-hereditary kidney cancer is called sporadic kidney cancer, and occurs when kidney cells pick up genetic mutations at random. These account for 92-95% of all kidney cancer cases.

Clues that your kidney cancer may be hereditary are:

  • You have more than one tumour in a kidney (multifocal tumours)
  • You have tumours in both kidneys (bilateral tumours)
  • You have a family history of kidney cancer
  • You were 46 years old or younger when you had you first kidney tumour.

Genetic conditions other than BHD that can cause kidney cancer or kidney cysts include:

Von Hippel-Lindau (VHL)

  • VHL is an autosomal dominant syndrome caused by mutations in the VHL gene.
  • People with VHL tend to develop clear cell renal cell carcinoma.
  • For more information, visit: Von Hippel Lindau Family Alliance

Hereditary Leiomyomatosis and Renal Cell Cancer (HLRCC)

  • HLRCC is an autosomal dominant syndrome caused by mutations in the FH gene.
  • People with HLRCC tend to develop papillary type II renal cell carcinoma.
  • You can learn more about HLRCC at the HLRCC Family Alliance website.

Hereditary Papillary Renal Cell Carcinoma (HPRCC)

  • HPRCC is an autosomal dominant disorder caused by mutations in the MET gene.
  • People with HPRCC tend to develop papillary type I renal cell carcinoma.
  • Further information is available here.

Tuberous Sclerosis Complex (TSC)

  • TSC is an autosomal dominant disorder caused by mutations in the TSC1 or TSC2 genes.
  • People with TSC tend to develop angiomyolipomas.
  • For more information, please visit: Tuberous Sclerosis Alliance

Polycystic Kidney Disease (PKD)

  • There are two types of PKD, Autosomal Dominant (ADPKD) and Autosomal Recessive (ARPKD).
  • ADPKD is caused by mutations in PKD1 or PKD2.
  • ARPKD is caused by mutations in the PKHD1 gene.
  • ADPKD and ARPKD cause extensive cyst formation in the kidneys, which can lead to kidney failure.
  • For more information, please visit: PKD Charity

Renal Cell Carcinoma with hereditary paraganglioma and pheochromocytomas

  • These cancers are caused by autosomal dominant mutations in SDHB and SDHD.
  • More Information is available here.

Chromosome 3 translocation

Familial Renal Oncocytoma

  • Familial renal oncocytoma is caused by autosomal dominant mutations in an unknown gene or genes.
  • This condition could be confused with BHD as BHD patients can get oncocytomas. However, familial renal oncocytoma by itself (without pneumothorax, lung cysts or skin lesions) is not caused by FLCN mutations, so is a separate condition from BHD.
  • For more information, please read the NIH summary of renal oncocytoma.

Familial Renal Carcinoma

  • Familial Renal Carcinoma is caused by mutations in an unknown gene or genes.
  • This diagnosis is made when two or more members of a family have kidney cancer, but do not have mutations in any of the known predisposition genes.
  • For more information, please read:

References

1. Shuch B, Vourganti S, Ricketts CJ, Middleton L, Peterson J, Merino MJ, et al. Defining early-onset kidney cancer: Implications for germline and somatic mutation testing and clinical management. J Clin Oncol [Internet]. 2014 Feb 10 [cited 2021 May 18];32(5):431–7. Available from: https://pubmed.ncbi.nlm.nih.gov/24378414/



Last Updated: May 2021
Review date: May 2024