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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.

Uninformative tests

Sometimes variants of uncertain significance results are considered “uninformative tests” because they don’t provide additional information about a person’s cancer risk. Certain negative test results may also be considered uninformative.  In families where there is a strong family history of cancer, the preference is to test someone who has had cancer first.  In such a family, if there is no cancer survivor to test first, a negative test may be considered uninformative because it may mean any one of three very different things:

  • there is a mutation in the family and the person who was tested doesn’t carry that mutation
  • the cancer in the family is not hereditary and is instead sporadic cancer
  • the cancer in the family is due to a mutation in a different gene or in a gene which has not yet been discovered and for which there is no available test 

Gene panel tests that look at many gene mutations associated with increased cancer risk are now widely available.  In some cases, people with uninformative BRCA1/2 genetic test result may want to consider panel testing to look at other gene mutations that may explain the cancer in their family.  

It is important to consult a genetics expert to help explain uninformative genetic test results, help you decide if more testing is warranted, and provide screening recommendations for people with an uninformative test result. 

Updated 12/30/16

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