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BRCA Testing

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BRCA1/BRCA2 gene mutations have been found to have an association with increased risks for breast and ovarian cancer. At St. Elizabeth Healthcare, we perform BRCA testing through the Hereditary Cancer Program.

Current Statistics

  • 50 to 87 percent chance for breast cancer in women with a BRCA1 or BRCA2 gene mutation
  • 10 to 27 percent increased risk for ovarian cancer for BRCA2 mutation carriers
  • Up to a 45 percent ovarian cancer risk for BRCA1 mutation carriers
  • Other cancers found to be associated with BRCA1/BRCA2 mutations include pancreatic cancer, prostate cancer, male breast cancer, stomach cancer and melanoma skin cancers, and possibly others.

Since the discovery of BRCA1/BRCA2, many women and men have received genetic testing for the identification of a gene mutation. However, it is important to note that only 5 to 10 percent of all women with breast cancer will have an identifiable BRCA1/BRCA2 gene mutation.

Who Should Be Tested
This testing is most appropriate for individuals with:

  • A strong family history of breast cancer.
  • A personal history of breast cancer diagnosed prior to age 50.
  • Multiple primary diagnoses of breast cancer or bilateral breast cancer.
  • A personal or family history of ovarian cancer (with or without breast cancer present in the family history).
  • A family history of multiple BRCA-related cancers as previously mentioned.

Testing for BRCA1/BRCA2 is not permitted for minors (an individual must be at least 18-years-old to have the testing) due to medical ethics concerns, as these cancer risks are specific to adulthood.

When Should Testing Begin
Testing for BRCA1 or BRCA2 mutations can occur at any age in adulthood. As breast cancer screening for women with a BRCA1 or BRCA2 mutation is recommended starting at age 25 (or 10 years prior to the earliest diagnosis of breast cancer –whichever age is reached first), many women with a known BRCA1/BRCA2 mutation will be tested prior to age 25. However, some women will choose not to be tested until later in life, yet will initiate screening practices simply knowing they are at risk for having the mutation previously identified in the family. For women without a previously identified BRCA1 or BRCA2 mutation in the family, testing may not occur until later in life when their family history of cancer becomes stronger, and a mutation begins to be suspected. It is a very personal decision and there is no set age when testing should be completed.

The choice to be tested for a BRCA mutation, and the subsequent decisions regarding risk-reducing surgery, increased screening, or chemoprevention, can be overwhelming, but also empowering. However, it is a decision that should not be taken lightly. Women and men with BRCA1 or BRCA2 mutations should speak with their healthcare providers regarding the benefits and limitations of all management options to make not only an informed decision, but also the best decision.

To speak to a St. Elizabeth Healthcare Genetic Counselor please call (859) 301-5396. Appointments can be made by calling St. Elizabeth Central Scheduling at (859) 655-7400. For insurance purposes, we prefer that you have a referral from your physician prior to making an appointment.

Other Hereditary Cancer Syndromes
As technology and genetic research advance, our knowledge of cancer genes and testing capabilities steadily increases.  The genetic counselors’ expertise in cancer syndromes allows for an accurate risk assessment for multiple other hereditary cancer predisposition syndromes including Lynch syndrome (Hereditary Non-Polyposis Colorectal Cancer), Familial Adenomatous Polyposis, Cowden syndrome, Li Fraumeni syndrome and more.

Insurance

A common misconception is that great wealth is needed in order to be tested, but in fact, insurance coverage of BRCA gene testing is excellent when testing is medically indicated. It is covered by almost all major insurance companies, including Medicaid and Medicare. But, most insurance plans have specific criteria that need to be met in order for testing to be covered. Our genetic counselors can help you determine whether or not your insurance will cover the testing.



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