Hereditary Kidney Cancer

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Familial kidney cancer occurs when multiple first-degree relatives (a parent, sibling, or child) have been diagnosed with kidney cancer and there is no known genetic cause.

Hereditary kidney cancer means that there is a known genetic mutation. This accounts for a minority of all kidney cancers.

Several conditions can be passed down from a parent to a child that make a person more likely to develop kidney cancer:

  • Hereditary leiomyomatosis and renal cell cancer syndrome is caused by mutations in the FH gene. People with this syndrome have an increased risk for a type of kidney cancer called papillary type 2 renal cell carcinoma as well as leiomyomas (bumps or growths) in the uterus and on the skin.
  • Birt-Hogg-Dubé syndrome is caused by mutations in the FLCN gene. People with this syndrome typically have characteristic skin nodules. They are at an increased risk for kidney cancer and spontaneous pneumothorax (lung collapse with an unknown cause).
  • Von Hippel-Lindau syndrome is caused by mutations in the VHL gene. People with this syndrome are at an increased risk for a type of kidney cancer called clear cell renal carcinoma, as well as adrenal gland tumors called pheochromocytomas, blood vessel tumor called hemangioblastomas, and pancreatic cysts or tumors.
  • Hereditary papillary renal cancer is caused by mutations in the MET gene. People with this syndrome are at an increased risk for a type of kidney cancer called papillary type 1 renal carcinoma.
  • BAP1 tumor predisposition syndrome is caused by mutations in the BAP1 gene. People with this syndrome have an increased risk for melanoma of the eye and skin in addition to kidney cancer.
  • MITF gene mutations also lead to an increased risk for both melanoma and kidney cancer.
  • Hereditary paraganglioma-pheochromocytoma syndromes are caused by mutations in the SDHA, SDHB, SDHC, SDHD, and SDHAF2 genes. People with these syndromes are at an increased risk for paragangliomas (a nerve tumor that produces the hormone adrenaline) and pheochromocytomas (tumors of the adrenal gland) as well as kidney cancer.
  • Tuberous sclerosis complex is caused by mutations in the TSC1 and TSC2 genes. People with this syndrome typically have changes to their skin, such as spots or bumps. They are at an increased risk for tumors of the central nervous system, heart, and lungs, as well as the kidneys.

Additional genes also may be associated with an increased risk for kidney cancer. This list represents the most common hereditary predispositions.