What is familial non-VHL clear cell renal cell carcinoma?
Familial non-VHL clear cell renal cell carcinoma (CCRCC) is a hereditary condition that increases the risk of the clear cell type of renal cell carcinoma (kidney cancer ). Currently, no other types of cancer or non-cancerous health problems are known to be associated with familial non-VHL CCRCC. The name separates this condition from von Hippel-Lindau syndrome (VHL ), which is the most common cause of hereditary risk for clear cell renal cell carcinoma.
What causes familial non-VHL CCRCC?
Familial non-VHL CCRCC is a genetic condition. This means that the risk of clear cell renal cell carcinoma can be passed from generation to generation in a family. A specific gene causing familial non-VHL CCRCC has not yet been discovered. Some families who appear to have familial non-VHL CCRCC have a translocation (rearrangement) involving chromosome 3. A translocation occurs when pieces of two or more chromosomes break off and reattach on another chromosome. Chromosome translocations can be passed down from generation to generation in a family. Research is ongoing to learn more about familial non-VHL CCRCC.
How is familial non-VHL CCRCC inherited?
Normally, every cell has two copies of each gene: one inherited from the mother and one inherited from the father. Although a specific gene has not been discovered, familial non-VHL CCRCC appears to follow an autosomal dominant inheritance pattern, in which a mutation happens in only one copy of the gene. This means that a parent with a gene mutation may pass along a copy of their normal gene or a copy of the gene with the mutation. Therefore, a child who has a parent with a mutation has a 50% chance of inheriting that mutation. A brother, sister, or parent of a person who has a mutation also has a 50% chance of having the same mutation.
How common is familial non-VHL CCRCC?
Familial non-VHL CCRCC is considered to be very rare. The number of people and families who have familial non-VHL CCRCC is unknown.
How is familial non-VHL CCRCC diagnosed?
Familial non-VHL CCRCC is suspected when multiple family members have clear cell renal cell carcinoma, but no other symptoms of VHL .
What are the estimated cancer risks associated with familial non-VHL CCRCC?
The specific risk of clear cell renal cell cancer in families with familial non-VHL CCRCC is unknown.
What are the screening options for familial non-VHL CCRCC?
There are no specific screening guidelines for families suspected of having familial non-VHL CCRCC. Individuals in these families are encouraged to talk with their doctor about screening options for kidney cancer , including an ultrasound  (which uses sound waves to create a picture of the internal organs), computed tomography (CT or CAT) scan  (which creates a three-dimensional picture of the inside of the body with an x-ray machine. A computer then combines these images into a detailed, cross-sectional view that shows any abnormalities or tumors), and magnetic resonance imaging (MRI)  (which uses magnetic fields, not x-rays, to produce detailed images of the body).
Screening options may change over time as new technologies are developed and more is learned about non-VHL CCRCC. It is important to talk with your doctor about appropriate screening tests.
Learn more about what to expect when having common tests, procedures, and scans .
Questions to ask the doctor
If you are concerned about your risk for kidney cancer , talk with your doctor. Consider asking the following questions of your doctor:
- What is my risk of developing kidney cancer?
- What can I do to reduce my risk of cancer?
- What are my options for cancer screening?
If you are concerned about your family history and think your family may have non-VHL CCRCC, consider asking the following questions:
- Does my family history increase my risk of developing kidney cancer?
- Should I meet with a genetic counselor?
- Should I consider genetic testing ?
National Cancer Institute
American Cancer Society
To find a genetic counselor in your area, ask your doctor or visit the following websites:
National Society of Genetic Counselors
National Cancer Institute: Cancer Genetics Services Directory