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Gene Testing for Breast Cancer – By: Mary Ellen Pratt, FACHE, CEO

Kassie Roussel - Thursday, August 10, 2017 | Comments (0)

Are You at Greater Risk for Breast Cancer?
We now know that family history and genetics can increase the risk of breast cancer.  Specifically, we know that BRCA1 and BRCA2 are human genes that produce tumor suppressor proteins.  When either of these genes is mutated, or altered, these cells are more likely to develop additional genetic alterations that can lead to cancer. Together, BRCA1 and BRCA2 mutations account for about 5 to 10 percent of all breast cancers. In addition, mutations in BRCA1 and BRCA2 account for around 15 percent of ovarian cancers. Breast and ovarian cancers associated with BRCA1 and BRCA2 mutations tend to develop at younger ages than their nonhereditary counterparts.

We have all heard the statistic that 12 percent of women in the general population will develop breast cancer sometime during their lives. By contrast, according to the most recent estimates, 55 to 65 percent of women who inherit a harmful BRCA1 mutation and around 45 percent of women who inherit a harmful BRCA2 mutation will develop breast cancer by age 70 years.  It is important to note that these lifetime risks are estimates and no long-term population studies have been completed. However, it is safe to say the risk increases substantially.
How do you know if you have the breast cancer gene?
Genetic testing can determine if you have the BRCA1/2.  However, this testing is only recommended for certain people:

  • Personal history of breast cancer diagnosed before age 50
  • Cancer in both breasts
  • Personal history of breast cancer and Ashkenazi Jewish heritage
  • Personal history of breast cancer and an immediate relative diagnosed with breast cancer at age 50 or younger
  • Family member diagnosed with breast cancer at age 45 or younger

For help determining if you are a candidate for testing, there are online tools developed by the Centers for Disease Control and Prevention (CDC) and advocacy organizations called Know: BRCA. This tool can help younger women assess their risk of a BRCA1/2 mutation and can help you talk with your provider or a genetic counselor about your risk of a BRCA1/2 mutation. Remember, there is only a very small chance that your family carries the BRCA1/2 if you or an immediate family member is the only person in your family with breast cancer or the cancers occur at older ages.

If you are interested in having the genetic test for BRCA1/2, you should consult with your provider to determine if you are appropriate. If you are at risk, before you decide on getting the genetic test, you should consider speaking to a counselor.  They can help you understand the benefits and risks of testing as there are potential physical, emotional and financial impacts of knowing your genetic status.  You should also check with your health insurance carrier to find out whether the costs of genetic counseling and testing are covered in your plans.  Many plans now cover this as the Affordable Care Act requires insurance plans to provide these tests as preventive services. The cost of testing can range from $300-$3,000 depending on how much of the genome is analyzed.

If you decide on testing, the first test is generally done on the person with breast cancer, if possible.  If the mutation is found, then other family member can be tested. There are three possible results from the genetic test: 1) negative-no mutation; 2) positive-mutation linked to cancer or 3) mutation not currently known.  A negative result means you don’t have the mutation, however, it does not mean you are not at risk for breast cancer. Remember, most women who get breast cancer do not have the BRCA1/2 mutation. A positive result doesn’t mean you will get breast cancer, it just places you at higher probably. There are ways to reduce that risk such as 1) enhanced screening, 2) prophylactic surgery; and 3) chemoprevention.

Some women who test positive for BRCA1/2 mutations may choose to start breast screening at younger ages, beginning at age 25 to 35 years.  Recent studies have shown that MRI may be more sensitive than mammography for women at high risk of breast cancer.  However, mammography can also identify some cancers that MRI cannot. Prophylactic (risk-reducing) surgery involves removing as much of the “at-risk” tissue as possible.  Some women choose to have both breasts removed to reduce their risk of breast cancer. Prophylactic survey does not completely guarantee that cancer will not develop because not all the “at-risk” tissue can be removed.  Finally, chemoprevention is the use of drugs, vitamins or other agents to try to reduce the risk of, or delay the occurrence of, cancer.

Being proactive about your health is important.  Being educated about your risks and adhering to screening recommendations can lead to early detection and reduce mortality.

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