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Genetic Testing

In the past, women seeking genetic testing for breast cancer would be tested solely for the BRCA1 or BRCA2 genetic mutations. Now, it’s possible to have a genetic cancer panel done looking for more mutations. For this reason, it’s very important that if you are considering genetic testing you be seen by a genetic counselor as well as consider being seen at a clinic for high-risk women or by a breast cancer physician who specializes in treating high-risk patients.

The counselor reviews family histories, discusses the testing process, and explains benefits as well as potential personal or emotional risks of learning about a genetic mutation that will increase breast cancer risk. In addition as new findings come along that may relate to you, counselors will recontact you. To find such a counselor, you can check with a nearby medical school. You can also call 1-800-FOR CANCER. The National Association of Genetic Counselors has a directory to help women and men find a genetic counselor near them.

Testing positive for a genetic mutation does not mean you are destined to get breast cancer. It means you are at increased risk, which provides information you can use to take action. A negative test does not mean that you will not get breast cancer. It only means that you do not have a known genetic mutation that increases breast cancer risk.

If you have a family history of breast cancer and are worried about the possibility of having a BRCA mutation, the best approach is for the relative who has had either breast or ovarian cancer to get tested first. If your mother has breast cancer, is tested, and discovers that she doesn’t have a genetic alteration, there’s no need for you to be tested too. If the test shows she has a mutation in a BRCA gene, then you can be tested for that specific mutation, which will save time and money. If you don’t have the mutation, you cannot pass it on to your child. If you do have it, you can begin to explore breast cancer risk reduction options.

BRCA Testing

Between 5 - 10% of all breast cancer cases occur in women with a genetic mutation. The first breast cancer gene, BRCA1 (BR is short for breast; CA is short for cancer) was discovered in 1990. The following year, researchers discovered a second gene, called BRCA2. The BRCA genes help repair DNA errors. Some DNA errors don’t cause any problems but other can cause cells to keep multiplying and some of these may become a cancer. In women and men with a BRCA mutation, the gene doesn’t function properly, DNA errors don’t get repaired, and the risk of cancer increases.

The most recent studies suggest that between 55% and 65% of women who inherit a BRCA1 mutation and about 45% of women who inherit a BRCA2 mutation will be diagnosed with breast cancer by age 70. In contrast, about 12% of women in the general population are expected to be diagnosed with breast cancer at some point during their lives.

The BRCA mutations also increase risk for ovarian cancer. Among women who carry a BRCA1 mutation, 39% will develop ovarian cancer by age 70. Among women with a BRCA2 mutation, 11% to 17% will have an ovarian cancer diagnosis. In contrast, about 1.3 of women in the general population will be diagnosed with ovarian cancer.

Men who carry a BRCA1 or BRCA2 mutation are also at increased risk for breast cancer. In women, BRCA1 mutations carry the greatest risk; in men it is BRCA2. Men who carry a BRCA1 mutation have a 1.2% lifetime risk for breast cancer while those who carry a BRCA2 mutation have a 6.8%  lifetime risk.

Any woman or man who has a family history of breast and ovarian cancer, from either side of the family, should speak with a genetic counselor. The counselor reviews family histories, discusses the testing process, and explains benefits as well as potential personal or emotional risks of learning about a genetic mutation that increases breast cancer risk. The counselor will also explain what tests need to be done and help interpret the results.

More Information:

Frequently Asked Questions

What are the current recommendations for BRCA testing?

The general recommendation is that someone with a 10% or greater risk of getting breast cancer should be seen by a genetic counselor and consider testing. You should consider testing if you have:

  • a personal history of breast cancer, diagnosed at or before 45
  • a personal history of breast cancer and Ashkenazi Jewish ancestry
  • a personal history of breast cancer diagnosed at or before 50 and at least one first or second degree relative (mother, aunt, sister, etc.) with breast cancer before 50 or ovarian cancer at any age
  • a personal history of breast cancer and two or more relatives on the same side of the family with breast cancer
  • a personal history of breast cancer and one or more relatives with epithelial ovarian cancer
  • a personal history of ovarian cancer at any age, particularly if Ashkenazi Jewish
  • a personal history of male breast cancer, particularly if at least one first or second degree relative has had breast cancer and/or ovarian cancer
  • a personal history of triple negative breast cancer at or before age 60
  • a family history of relatives with a BRCA1 or BRCA2 mutation.

I was diagnosed with breast cancer. Should I be tested to see if I carry the BRCA mutation?

There are reasons women with breast cancer may want to consider genetic testing. They may want to know if others in their family are likely to get it. Or they may be thinking about having children, and the possibility of passing on a breast cancer genetic mutation. Women with cancer in one breast who have a genetic mutation are more likely to get it in the other, and they may want to consider having a double mastectomy if they know they have the gene. A woman with BRCA1 or BRCA2 may also want to have her ovaries removed.

It doesn't make sense for every woman with breast cancer to be tested, since hereditary breast cancer is so rare. However, some women should consider genetic testing. This includes women who:

  • Have breast cancer before age 50
  • Have cancer in both breasts
  • Have breast and/or ovarian cancer or a family history of breast and/or ovarian cancer
  • Are diagnosed with breast cancer multiple times
  • Have a family member with a BRCA mutation
  • Are of Ashkenazi Jewish ethnicity
  • Have men in their family who have developed breast cancer

How much does it cost to be tested for a BRCA mutation?

The cost for testing for a BRCA1 or BRCA2 genetic mutation will depend on the type of test you need. This is determined, in part, by whether a family member has already been found to have a BRCA mutation. Costs range from $300 to $3,000.

The Affordable Care Act (ACA) requires that insurance companies cover tests recommended by the US Preventive Services Task Force. This includes BRCA counseling and testing for individuals who are at high-risk of carrying a BRCA mutation because of their family history. The full list of preventive services is available here. (Some insurance plans that existed prior to the ACA may not have to meet this requirement, so all women and men considering genetic counseling and testing should speak with their insurance company before getting tested.)

There are some financial resources available to help cover testing costs for women and men who do not have insurance. Genetic counselors can also provide assistance about financial resources.

More Information:

My mother has a BRCA1 mutation. Does that mean I have it too?

When a woman or man carries a genetic mutation that leads to an increased risk of breast cancer, there is a 50-50 chance the mutation will be passed on to her or his children. Whether or not the child goes on to develop breast cancer, she or he has a 50-50 chance of passing the mutation on to her or his own children.

Can I get fired or lose my health insurance if genetic testing shows I have a BRCA mutation?

Since 2009, the  Genetic Information Nondiscrimination Act (GINA) has protected women and men who have had genetic testing. The federal law makes it illegal for insurance companies to use genetic test results that indicate a person might be at greater risk for developing a certain disease as a reason to deny or cancel health insurance coverage or raise premiums. It also makes it illegal for an employer to use genetic test results to make decisions on hiring, firing, and compensation.

The federal law does not cover life insurance, disability insurance, and long-term care insurance. BRCA test results can affect a person’s eligibility for these types of insurance programs and benefits.

I had genetic testing and was told I have a “variant.” What does this mean?

Several thousand mutations, mistakes, or variations, have been identified in the BRCA genes, but only some of these variations are definitely linked to an increased risk of breast or ovarian cancer. Between 10% and 15% of individuals undergoing genetic testing for BRCA mutations will be found to have a variant. They are even more common in non-white populations, with frequencies as high as 14% among African Americans.

A genetic test result of "variant" means that somewhere on the BRCA gene there is a mistake, making the gene look different than a normal gene. However, this error is not one that has yet been and may never be associated with an increased risk in family members who carry this mutation.

A test result of  "variant of uncertain clinical significance" means that at this time the medical profession does not have evidence this variant puts a woman or man at increased risk for developing breast cancer—but they also aren’t completely sure what the mistake means.

Genetic test results aren’t always as clear as we might hope they would be. There is ongoing research on the BRCA genetic mutations that is likely to add to our understanding of genetic variants. If you are told you have a variant, you should be followed by a doctor who specializes in treating high-risk patients. You should also ask about registries for people with these variants, to ensure you become aware of whether the variant has been re-classified as normal or as a variant that can increase breast cancer risk.

I just learned I have a BRCA mutation. What options do I have?

Receiving a positive test result is not an emergency, and it does not mean you will definitely get breast cancer. It just confirms what you undoubtedly suspected: that you are at high risk for developing breast cancer. The question is: What are you comfortable doing about it?

The first thing do is make an appointment at a clinic that specializes in high-risk women or women with genetic risk.They will review your options with you and consider your particular situation. Many factors have to be taken into consideration, from whether you still want to conceive your own children (which would preclude having your ovaries removed immediately) to whether you are claustrophobic and cannot tolerate an MRI. All these need to be discussed and digested before you launch into a plan that will work for you and your life.

Options you have include:

  • Regular monitoring by a breast specialist
    • This typically entails having an exam every six months beginning around age 25–35, as well as a yearly mammography alternating with annual MRI. If you choose monitoring make sure you are getting the best breast MRI available, in a high-risk or genetic clinic. Images are only as good as the person taking and then reading the pictures. If you choose monitoring, you will also need to think about how to manage your ovarian cancer risk. There are currently no good options for ovarian cancer screening.

  • Prophylactic mastectomy (removal of both breasts) and/or prophylactic oophorectomy (removal of the ovaries).
  • Taking the drug tamoxifen for five years to reduce breast cancer risk.

I have a BRCA mutation. Should I have an oophorectomy (removal of the ovaries) to reduce my risk for breast and ovarian cancer?

Genetic counselors suggest women with BRCA mutations consider a prophylactic oophorectomy at age 35, or when their childbearing is complete (the recommendation is no later than 40, if possible).

Studies have found that women with a BRCA mutation who have a prophylactic oophorectomy—removal of the fallopian tubes and ovaries—reduce their risk of ovarian cancer by 95% and their risk of breast cancer by about 50%. An oophorectomy reduces breast cancer risk because it eliminates ovarian hormones at reproductive levels.

Getting a prophylactic oophorectomy has been recommended for women with BRCA mutations for some time, but many people only learned about it when actress Angelina Jolie discussed her preventive surgeries. She had a bilateral mastectomy and then, a few years later, an oophorectomy.

Although an oophorectomy will reduce ovarian cancer risk, it doesn't eliminate it. Women who have had the surgery still have a five percent risk of developing a primary peritoneal cancer (a rare cancer that can occur outside the abdomen and uterus.) This is because the same cell line that is in the ovaries and fallopian tubes is also found in the abdomen, and while the surgery will remove most of those cells, some will invariably remain.

To decrease the risk of osteoporosis and heart disease that accompanies this surgery (because it reduces estrogen) and to help alleviate menopausal side effects (removing the ovaries immediately places a woman into menopause), doctors may recommend, and many women choose, hormone replacement therapy (HRT) until age 50.

Deciding whether to have a prophylactic oophorectomy or a prophylactic mastectomy isn't easy. Speak with a genetic counselor to explore options. Another good resource is the organization FORCE - Facing Our Risk of Cancer Empowered, which provides information, support and a toll-free helpline.