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Genetic Testing

Genetic testing, especially in relation to breast cancer risk, has become a common topic in the medical world as technology for detection has advanced. Genetic testing looks for gene changes that are linked to typical cancer syndromes. Genes, which are hereditary and passed down from your parents, determine your potential for growth and cellular function, but do not ensure the outcome.

With breast cancer, about 5% to 10% of all breast cancer cases are due to hereditary cases. In those 5% to 10% of cases, genetic testing would be useful to predict risk for breast cancer. While this is a very small number of cases that could be identified, genetic testing may be useful in taking preventative measures.

Genetic testing may be performed using saliva, skin cells, or blood samples. Before, having the test, you should discuss your options with your doctor about whether or not this test makes sense or is right for you. Once the test is performed, you will wait a few weeks before receiving results from a genetic counselor.

Common cancer syndromes may be identified by the following gene mutations:

  • APC gene
  • BRCA 1 and BRCA 2
  • MSH2, MLH1, MSH6, PMS2, and EPCAM genes
  • PTEN gene
  • TP53 gene

The most commonly discussed gene test for breast cancer is BRCA 1 and BRCA 2, however, over 50 different hereditary cancer syndromes may be identified by these genetic tests.

To learn more about the BRCA 1 and BRCA 2 test, click here. To learn more about genetic testing for cancer, click here.