Frequently Asked Questions about BRCA and Genetic Testing for Breast Cancer

Angelina Jolie’s announcement about testing positive for a BRCA1 gene mutation and undergoing a preventive mastectomy has left many people asking: "Should I get this type of genetic testing?" The following is a list of common questions related to BRCA1/2 genetic testing. 

What does it mean if you carry a BRCA1/2 gene mutation?

Women with a BRCA1/2 gene mutation are at greatly increased risk for breast cancer (up to 87% chance in their lifetime) and ovarian cancer (up to 44% chance in their lifetime). Men who carry these gene mutations are at increased risk for male breast cancer and prostate cancer. Both men and women can be at increased risk for pancreatic cancer, depending on the gene involved and the family history.

It is important to note that there are other causes of breast and ovarian cancer running in families, so just because a patient tests negative for the BRCA1/2 gene mutations, they may still be at risk for breast or ovarian cancer. Most individuals who get breast and ovarian cancer DO NOT carry these gene mutations. Thus, it’s very important that these test results are interpreted in the context of the individual’s family history by a genetic counselor or other qualified healthcare provider.

Why would someone want to know they carry a BRCA1/2 gene mutation?

Many patients want to know this information so they can take steps to detect cancer early, if not prevent it altogether. If a woman has a BRCA1/2 gene mutation, she can undergo earlier and more frequent screening for cancer. She can explore options to reduce her risks of both breast and ovarian cancer, such as taking medications or undergoing preventive surgeries. Although Angelina Jolie pursued a preventive mastectomy, not all women with BRCA1/2 gene mutations go this route. Many choose stringent screening for breast cancer via mammography and breast MRI.

Men often want to know this information to understand their risks for male breast cancer as well as prostate cancer (which can be associated with BRCA1/2 gene mutations).

Women who are newly diagnosed with breast cancer often want to know this information to assist them in making decisions about treatment, such as whether to pursue a lumpectomy or a more extensive surgery, like a bilateral mastectomy. If a patient tests positive for a BRCA1/2 gene mutation, she may also consider preventive surgery to remove her ovaries.

Both men and women are often interested in the genetic test results to determine whether their children might have inherited a BRCA1/2 gene mutation and, as a result, need to begin cancer screening at an earlier age. For example, breast cancer screening begins at age 25 for young women who carry a BRCA1/2 gene mutation. When an individual carries a BRCA1/2 gene mutation, each of their children (as well as their siblings) has a 50/50 chance to carry the same mutation.

And, alternatively, some individuals decide that they DON’T want to know this information. A genetic counselor or other qualified healthcare provider can assist patients in making a decision that’s right for them.

Who should be tested for the BRCA gene mutation?

Not everyone should undergo BRCA1/2 genetic testing. Only about 5-10% of breast and ovarian cancers are caused by mutations in these genes. About 1 in 500 non-Ashkenazi Jewish individuals carry these gene mutations and about 1/40 Ashkenazi Jewish individuals carry them. Ashkenazi Jewish means that a person is Jewish and has ancestors from Central or Eastern Europe.

The following are "red flags" for a BRCA1/2 gene mutation, whether the patient falls into this category or they have a relative who does:

  • Breast cancer prior to age 50 (or at any age, if Ashkenazi Jewish ancestry); OR
  • Three or more relatives with breast cancer (on the same side of the family) at any age; OR
  • Ovarian cancer (at any age); OR
  • Male breast cancer (at any age); OR
  • A combination of breast, ovarian, and/or pancreatic cancer in the same individual or on the same side of the family

It is important to note that half of all people who carry a BRCA1/2 gene mutation inherited it from their fathers, so both paternal and maternal family history are equally important.

Patients are encouraged to meet with a genetic counselor or qualified healthcare provider to discuss their personal and family history of cancer to determine whether BRCA1/2 genetic testing makes sense for them.

What is involved in BRCA1/2 genetic testing?

The actual genetic testing is done via a blood sample or a cheek cell sample (collected with mouthwash). It takes about two weeks to get results.

Does insurance cover the genetic testing and additional screening/surgeries for patients who test positive for a BRCA1/2 gene mutation?

As long as it is clinically indicated, BRCA1/2 genetic testing is most often covered by insurance. "Clinically indicated" means that the patient’s personal and/or family history are suggestive of a BRCA1/2 gene mutation (as discussed above). Criteria for coverage vary from insurance company to insurance company. A genetic counselor or qualified healthcare provider can help you gather more information about your coverage for this type of testing. If a patient tests positive for a BRCA1/2 gene mutation, any additional screening, medications, and/or surgeries are typically covered by insurance as well.

Can someone be discriminated against based on results from a BRCA1/2 genetic test?

The Genetic Information Non-discrimination Act (GINA) makes it illegal for a group or individual health insurer to discriminate against someone based on results from any type of genetic testing. These results cannot be used as a pre-existing condition nor can they be used to set rates or deny coverage for any services. GINA also prohibits genetic discrimination by employers. Many states have additional laws for other types of insurance, such as long term care, long term disability, and life insurance.

If you are interested in learning more about genetic testing for cancer, please contact the Risk Assessment & Prevention Program at Invision Sally Jobe at 720-493-3229 or Rocky Mountain Cancer Centers at 303-925-0700. Bright Pink, a national non-profit organization, offers a simple tool that helps you assess your risk for breast and ovarian cancer>>