9 Facts about BRCA Mutations and Testing

ORLANDO, Fla. — BRCA 1 and BRCA 2 are human genes that produce tumor suppressor proteins. These proteins repair damaged DNA and help maintain the cell's genetic material. When one of the genes is altered or mutated, it can lead to cancer.

Here are 9 facts to know about what these genes mean to breast and ovarian cancers:

1. People who inherit BRCA 1 and BRCA 2 mutations have an increased risk for female breast cancer and ovarian cancer.

2. The BRCA gene test is a blood test that uses DNA to identify the mutations in the two genes.

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3. People of Ashkenazi Jewish heritage have a higher prevalence of BRCA 1 and BRCA 2 mutations than people in the U.S. general population, according to the National Cancer Society.

4. Doctors use several screening tools to asses if a patient should be tested for BRCA 1 and BRCA 2 mutations. Some of them are:

• Multiple breast cancers in the family
• Cancer in both breasts in the same woman
• Breast cancer diagnosed before the age of 50

5. Women who have a known BRCA 1 or BRCA 2 mutation are encouraged to start screening for breast cancer as early as 25 years old.

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6. According to the Mayo Clinic, inherited BRCA gene mutations are responsible for between 5 to 10% of breast cancers and 15% of ovarian cancers.

7. The Affordable Care Act considers BRCA testing a covered preventive service for women who meet the United States Preventive Task Force recommendations for testing. Patients are encouraged to check with their insurance provider for details of their individual policies.

8. Medicare covers the testing for women who have signs and symptoms of breast, ovarian or other cancers associated with BRCA 1 and BRCA 2 mutations.

9. Testing results are described as positive, negative or uncertain.

• Positive means a mutation in BRCA 1 or BRCA 2 was found
• Negative means no mutation was found, but that does not mean the patient won't get cancer
• Uncertain means some sort of BRCA mutation was found, but it may or may not be associated with an increased cancer risk. The U.S. National Library of Medicine reports patients with uncertain results are encouraged to get more monitoring.

Editor's Note: The Health Insurance Portability and Accountability Act of 1996 (HIPAA) prevents insurance companies from denying coverage based on genetic information. It also prevents insurance companies from using genetic information to determine an illness was pre-existing.  Patients should always have discussions with their physicians about an health concerns.

Cox Media Group