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Familial Non-VHL Clear Cell Renal Cell Carcinoma

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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.

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