Genetic Testing

All cancers are caused by a change, or mutation, in a gene, which provides instructions for the body to grow and function. When a gene mutation occurs, genes do not function correctly, which may increase the risk for cancer.

Mutated genes passed down from parent to child increase the risk for certain cancers. There are three common genes that can mutate and increase risk of breast cancer: BRCA1, BRCA2, and PALB2. If you inherit a mutation in these genes, you will have an increased chance of developing breast cancer and potentially other cancers.

While most people who develop breast cancer have no family history of the disease, it is important to know which individuals have an inherited cancer risk so that they can take steps for early detection or preventative measures.

Genetic tests are only recommended when the person’s individual or family history suggests the possible presence of a harmful mutation. The Genetic Risk Evaluation and Testing program assesses cancer risk, determines appropriate medical management, and provides genetic testing recommendations. A genetic evaluation typically includes:

  • Medical History: A detailed review of your personal medical and family history. This information helps determine your risk of developing cancer, appropriate medical management, and if genetic testing is recommended to help clarify your cancer risk.
  • Testing: Genetic testing analyzes your genes (usually through a blood sample) to determine if you have a change in a gene that increases the risk for breast cancer. Insurance companies usually cover the cost of testing if you have a personal or family history that is concerning for hereditary cancer.
  • Counseling: Following the testing, the person receives comprehensive counseling based on the results of the test and family history.
  • Next Steps: For those with a higher risk of cancer, options can include surveillance or prevention strategies. A patient’s choice is strictly a personal decision. Genetic counseling and testing provide the tools needed to make informed decisions.
  • Family Risk: When a family member tests positive for a mutation, other family members should be tested as well. The information from genetic counseling and testing enables family members to make decisions that could save their lives. It also can tell family members that they do not have the mutated gene.