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Genetic Testing for Hereditary Cancer

Learn about genes and cancer, signs of hereditary cancer, genetic counseling, types of genetic tests and what results mean for you and your family.

Variants of uncertain significance (VUS)

Genes tell our bodies which proteins to make. Not all changes in genes are bad. Some gene changes can mean the difference between black hair and blonde hair, or the difference between brown eyes and green eyes.  Other gene changes can cause our body to make proteins that don’t work correctly.

Some people receive a genetic test result called a “variant of uncertain significance” or "VUS."  This means that, at the time of testing, the laboratory cannot determine whether the gene change is a “deleterious change,” which increases the risk for cancer, or a "benign" variant which does not increase cancer risk.  As the number of genes on hereditary cancer panel tests increases, so does the chance that someone will receive a VUS result for one or more gene.

Over time, as research on different variants continues, sometimes the laboratories will determine whether or not these changes are “deleterious” and will “reclassify” the test result.  It is important for people receive the result of a variant of uncertain significance to stay in contact with their genetics specialist to learn if their variant has been reclassified to a deleterious or a harmless mutation. There are research studies looking at whether variants are “deleterious” or "benign."  For more information visit our page on participating in research.

Cancer screening and risk management recommendations for people who receive a variant of uncertain significance result will be based on personal and/or family history of cancer. A genetics specialist can help people with a VUS determine the risk management options that are appropriate for them.

updated 12/30/16

 

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