Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation
Review
. 2014 Jan;21(1):81-90.
doi: 10.1053/j.ackd.2013.10.001.

Hereditary kidney cancer syndromes

Naomi B Haas  1 , Katherine L Nathanson  2
Affiliations
Review

Hereditary kidney cancer syndromes

Naomi B Haas et al. Adv Chronic Kidney Dis. 2014 Jan.

Abstract

Inherited susceptibility to kidney cancer is a fascinating and complex topic. Our knowledge about types of genetic syndromes associated with an increased risk of disease is continually expanding. Currently, there are 10 syndromes associated with an increased risk of all types of kidney cancer, which are reviewed herein. Clear cell kidney cancer is associated with von Hippel Lindau disease, chromosome 3 translocations, PTEN hamartomatous syndrome, and mutations in the BAP1 gene as well as several of the genes encoding the proteins comprising the succinate dehydrogenase complex (SDHB/C/D). Type 1 papillary kidney cancers arise in conjunction with germline mutations in MET and type 2 as part of hereditary leiomyomatosis and kidney cell cancer (fumarate hydratase [FH] mutations). Chromophone and oncocytic kidney cancers are predominantly associated with Birt-Hogg-Dubé syndrome. Patients with Tuberous Sclerosis Complex (TSC) commonly have angiomyolipomas and rarely their malignant counterpart epithelioid angiomyolipomas. The targeted therapeutic options for the kidney cancer associated with these diseases are just starting to expand and are an area of active clinical research.

Keywords: Birt-Hogg-Dube disease; Genetic disease; Genetic susceptibility; Kidney cancer; von Hippel Lindau disease.

PubMed Disclaimer

Conflict of interest statement

Conflict of interest: No conflict of interest for either author.

Similar articles

See all similar articles

Cited by

See all "Cited by" articles

References

    1. Von Hippel E. Uber eine sehr seltene Erkanung der netzhaut. Graefes Arch Clin Exp Opthalmol. 1904;59:83–106.
    1. Lindau A. Studien ber kleinbirncysten bau: pathogenese und beziehungen zur angiomatosis retinae. Acta Radiol Microbiol Scandinavica. 1926;1( Suppl):1–128.
    1. Richards FM, Crossey PA, Phipps ME, et al. Detailed mapping of germline deletions of the von Hippel-Lindau disease tumour suppressor gene. Hum Molec Genet. 1994;3(4):595–598. - PubMed
    1. Richards FM, Maher ER, Latif F, et al. Detailed genetic mapping of the von Hippel-Lindau disease tumour suppressor gene. J Med Genet. 1993 Feb;30(2):104–107. - PMC - PubMed
    1. Richards FM, Phipps ME, Latif F, et al. Mapping the Von Hippel-Lindau disease tumour suppressor gene: identification of germline deletions by pulsed field gel electrophoresis. Hum Molec Genet. 1993;2(7):879–882. - PubMed

MeSH terms

Supplementary concepts