Hereditary Kidney Cancer Syndromes (PDQ®)–Patient Version
What is Kidney Cancer?
- Kidney cancer is a disease in which malignant (cancer) cells form in tubules of the kidney.
Kidney cancer is a disease in which malignant (cancer) cells form in tubules of the kidney.
Kidney cancer (also called renal cell cancer) is a disease in which malignant (cancer) cells are found in the lining of tubules (very small tubes) in the kidney. There are 2 kidneys, one on each side of the backbone, above the waist. Tiny tubules in the kidneys filter and clean the blood. They take out waste products and make urine. The urine passes from each kidney through a long tube called a ureter into the bladder. The bladder holds the urine until it passes through the urethra and leaves the body.
Cancer that starts in the ureters or the renal pelvis (the part of the kidney that collects urine and drains it to the ureters) is different from renal cell cancer and is not associated with the hereditary syndromes described in this summary. Cancer of the renal pelvis may be associated with another hereditary condition called Lynch syndrome. (See the PDQ Health Professional summary on Genetics of Colorectal Cancer for more information.)
What is Hereditary Kidney Cancer?
- Having certain hereditary syndromes can increase the risk of kidney cancer.
- Hereditary and non-inherited kidney cancers differ in several ways.
Having certain hereditary syndromes can increase the risk of kidney cancer.
Most of the time, kidney cancer is not passed down from parent to child. Kidney cancer that affects multiple generations of a family is called hereditary kidney cancer. Hereditary kidney cancer is rare and accounts for only 5% to 8% of all kidney cancers. It is usually linked to a hereditary syndrome. A hereditary syndrome is a set of signs and symptoms or conditions that occur together and is caused by certain changes in the genes that can be passed down from a parent to a child. Hereditary syndromes are sometimes called genetic syndromes or family cancer syndromes. People with the hereditary syndromes described in this summary have an increased risk of getting kidney cancer.
The four hereditary syndromes described in this summary are:
Hereditary and non-inherited kidney cancers differ in several ways.
- Hereditary kidney cancer is often diagnosed at an earlier age than sporadic kidney cancer.
- Some types of hereditary kidney cancer can be more or less aggressive than sporadic kidney cancer.
- The treatments for hereditary kidney cancer may differ from treatments for sporadic kidney cancer.
- People with hereditary kidney cancer may have a higher risk of other conditions or types of cancer.
This patient summary provides information about the hereditary syndromes associated with kidney cancer. It does not cover information about sporadic kidney cancer or somatic mutations found during tumor sequencing.
What is Genetic Counseling and Who Should Receive It?
- Genetic counseling is a communication process between a specially trained health professional and a person concerned about the genetic risk of disease.
- Whether a person should get tested for hereditary kidney cancer depends on certain factors.
Genetic counseling is a communication process between a specially trained health professional and a person concerned about the genetic risk of disease.
The person's family and personal medical history may be discussed, and counseling may lead to genetic testing. Genetic counselors and other specially trained health professionals can help patients make an informed decision about whether to get genetic testing.
It is not always easy to determine whether a condition in a family is inherited. Genetic counselors and other specially trained health professionals can help patients understand their family medical history, their options for genetic testing, and the risks and benefits of learning genetic information. If a patient chooses to get genetic testing, it may be done using a sample of blood, saliva, or skin. Genetic test results can reveal information about other family members and can create tension in the family. Genetic counselors can help people cope with their genetic testing results, including how to discuss the results with family members.
Whether a person should get tested for hereditary kidney cancer depends on certain factors.
Certain clues in a person's medical history or family history may lead health professionals to think that an individual may have a hereditary syndrome. These individuals may benefit from genetic counseling and genetic testing. With kidney cancer, individuals who have one or more of the following criteria may be referred for genetic testing:
What are the Major Hereditary Kidney Cancer Syndromes?
- Four hereditary kidney cancer syndromes and the genes that cause them have been identified.
Mutations (changes) in several different genes can cause hereditary syndromes that increase the risk of kidney cancer. Genes are pieces of DNA that contain information needed to define traits and genetic conditions.
Genes are passed from parents to children. For each of the hereditary syndromes described below, a child only needs to inherit a single mutated copy of a gene from one parent to have the disease. This is called autosomal dominant inheritance.
Four hereditary kidney cancer syndromes and the genes that cause them have been identified.
Von Hippel-Lindau Disease (VHL)
VHL is a hereditary syndrome that increases the risk of kidney cancer and renal cysts. VHL is associated with a clear-cell type kidney cancer, which is typically slow growing. People with VHL can also develop other malignant (cancer) and benign (noncancer) tumors in the central nervous system, retina, pancreas, adrenal glands, endolymphatic sac, epididymis (in males), and broad ligament (in females).
VHL is caused by mutations in the VHL gene. The VHL gene is a type of gene called tumor suppressor gene. Normally, the VHL gene prevents cells from growing and dividing too quickly. When the VHL gene is mutated in certain ways and loses its protective function, uncontrolled cell growth results that may lead to cancer. Mutated copies of the VHL gene are passed from parents to children. The syndrome caused by these mutations is inherited in an autosomal dominant fashion. If one parent has VHL, there is a 50% (1 in 2) chance for a child to inherit the mutation.
Learn more about VHL from the National Center for Advancing Translational Sciences Genetic (NCATS) and Rare Diseases Information Center.
Hereditary Leiomyomatosis and Renal Cell Cancer (HLRCC)
HLRCC is a hereditary syndrome that increases the risk of kidney cancer. HLRCC is associated with a unique type of kidney cancer that can be fast growing and may lead to different treatment decisions. People with HLRCC can also develop skin lesions known as leiomyomas and uterine fibroids (in females).
HLRCC is caused by mutations in the FH gene. The FH gene makes a protein called fumarase. Fumarase helps cells use oxygen and produce energy. When the FH gene is mutated, cells are not able to use oxygen, which may lead to cancer. These mutations are passed from parents to children. The syndrome caused by these mutations is inherited in an autosomal dominant fashion. If one parent has HLRCC, there is a 50% (1 in 2) chance for a child to inherit the mutation.
Learn more about HLRCC from the NCATS Genetic and Rare Diseases Information Center.
Birt-Hogg-Dubé Syndrome (BHD)
BHD is a hereditary syndrome that increases the risk of multiple types of kidney cancer that are typically slow growing. People with BHD can also develop skin lesions known as fibrofolliculomas, lung cysts, and spontaneous pneumothorax (collapsed lung).
BHD is caused by mutations in the FLCN gene. The FLCN gene is a tumor suppressor gene. Normally, the FLCN gene prevents cells from growing and dividing too quickly. When the FLCN gene is mutated, uncontrolled cell growth may result that leads to cancer. Mutated copies of the FLCN gene are passed from parents to children. The syndrome caused by these mutations is inherited in an autosomal dominant fashion. If one parent has BHD, there is a 50% (1 in 2) chance for a child to inherit the mutation.
Learn more about BHD from the NCATS Genetic and Rare Diseases Information Center.
Hereditary Papillary Renal Cancer (HPRC)
HPRC is a hereditary syndrome that increases the risk of a type of kidney cancer known as papillary type 1 kidney cancer, which is typically slow growing. Papillary kidney cancer forms in the cells lining the renal tubules.
HPRC is caused by mutations in the MET gene. The MET gene makes a protein called MET that is involved in cell signaling and growth. When the MET gene is mutated, cells may not respond to signals that normally prevent them from growing, causing cancer to develop. Mutations in the MET gene are passed from parents to children. The syndrome caused by these mutations is inherited in an autosomal dominant fashion. If one parent has HPRC, there is a 50% (1 in 2) chance for a child to inherit the mutation.
Learn more about papillary kidney cancer from the NCATS Genetic and Rare Diseases Information Center.
What Happens After a Hereditary Kidney Cancer Syndrome Diagnosis?
Most recommendations for screening and treating people with kidney cancer are based on evidence obtained from clinical trials. Because families with these hereditary kidney cancer syndromes are rare, many of these studies did not include these types of hereditary kidney cancer. When studies of families with hereditary syndromes are not available, guidelines on how to monitor and care for patients with inherited kidney cancer are based on the expert opinion and consensus of healthcare professionals who have experience in treating families with these syndromes.
Families with these hereditary syndromes are watched closely for signs of disease in the kidneys and in other organs. Most kidney tumors that occur can be removed by surgery, but they may recur (come back). Other treatment options may be available.
See the PDQ Health Professional summary on the Genetics of Renal Cell Carcinoma for information about screening and treatment options for each of the hereditary syndromes described in this summary. See the PDQ summary on Renal Cell Cancer Treatment for information about the treatment of kidney cancer in the general population.
Are Clinical Trials Available for Hereditary Kidney Cancer Syndromes?
To Learn More About Kidney (Renal Cell) Cancer
- Kidney Cancer Home Page
- Drugs Approved for Kidney Cancer
- Genetic Testing for Inherited Cancer Susceptibility Syndromes
- Genetic and Rare Diseases Information Center
- Genetics Home Reference
- Renal Cell Cancer Treatment
- Transitional Cell Cancer of the Renal Pelvis and Ureter Treatment
- Wilms Tumor and Other Childhood Kidney Tumors Treatment
For general cancer information and other resources from the National Cancer Institute, see the following:
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This PDQ cancer information summary has current information about the genetics of kidney cancer. It is meant to inform and help patients, families, and caregivers. It does not give formal guidelines or recommendations for making decisions about health care.
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Clinical Trial Information
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PDQ® Cancer Genetics Editorial Board. PDQ Hereditary Kidney Cancer Syndromes. Bethesda, MD: National Cancer Institute. Updated <MM/DD/YYYY>. Available at: https://www.cancer.gov/types/kidney/patient/kidney-genetics-pdq. Accessed <MM/DD/YYYY>.
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