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10 Things to Know About BRCA Genes

Patients are becoming increasingly aware of the BRCA genes. However, many questions still exist about what they are and their link to hereditary breast and ovarian cancer, as well as other cancers. Here are answers to commonly asked questions.

Q: What are the BRCA genes?

The BRCA genes are tumor suppressor genes. They prevent uncontrolled cell growth and abnormal cells from turning into cancer. You have two copies of the BRCA-1 and BRCA-2 gene. If you’re a “BRCA carrier,” you have a mutation, or change, in one of the BRCA genes which prevents it from working properly. These individuals have higher lifetime risks for cancer because the gene is not functioning correctly.

Q: Where do BRCA mutations come from?

BRCA mutations are inherited from a parent and are passed down from generation to generation. If you have a BRCA mutation, you have a 50 percent chance of passing the mutation to each of your children. These mutations do not skip generations but sometimes appear to, because not all people with BRCA mutations develop cancer. Both men and women can have BRCA mutations and can pass them onto their children.

Q: How common are BRCA mutations?

BRCA mutations are rare – affecting about 1 in 400 people. However, individuals of Ashkenazi Jewish decent have about a 1 in 40 chance of having a BRCA mutation. Close to 1 million people in the United States are estimated to have a BRCA mutation, but less than 10 percent are aware that they have a mutation that increases their risk for cancer. That’s why genetic counseling is very important.

Q: What types of cancer do the BRCA genes cause?

Mutations in the BRCA genes cause Hereditary Breast and Ovarian Cancer Syndrome (HBOC). The lifetime risk for breast cancer is estimated to be 55 to 85 percent, and the lifetime risk for ovarian cancer is 27 to 44 percent. Women with a BRCA mutation have higher risks for breast and ovarian cancer. If you’re a BRCA carrier and have already had breast cancer, you have an increased risk for a second breast cancer. BRCA mutations may also increase your risk for prostate, melanoma, and pancreatic cancer.

Q: Do these genes affect men?

Yes. Men are often forgotten in discussions of the “breast” cancer genes. If you’re a man with a BRCA mutation, you have a 20 percent lifetime risk for prostate cancer, a 6 percent lifetime risk for male breast cancer, and elevated risks of pancreatic cancer and melanoma. Men with BRCA mutations also need to have increased cancer screenings.

Q: Is a mastectomy the only option for BRCA carriers?

No. While some women choose to have a bilateral mastectomy, there are other options to reduce your breast cancer risk. These include monthly self-breast exams, clinical breast exams two times a year, as well as annual mammograms, and annual breast MRIs. Chemoprevention, a medication that reduces breast cancer risk, may also be an option for you.

At this time, there are no effective screening techniques for ovarian cancer. High risk patients may consider ultrasounds or a blood test called CA-125, but these tests are not known to be effective at detecting ovarian cancer at an early stage. If you have a BRCA mutation and have finished having children, we recommend having your ovaries and fallopian tubes removed to reduce your risk of ovarian cancer (usually around age 35-40). This procedure, called an oophorectomy, also reduces your risk for breast cancer and has been associated with a 77 percent reduction in your overall risk of death. 

Men with BRCA mutation should have increased screening for breast and prostate cancer.

BRCA carriers have many difficult decisions to make, and with that knowledge they can work with healthcare professionals to make sure they make the right decisions for themselves and their family.

Q: Should I get tested and how much does it cost?

While there are many people with BRCA mutations, not everyone needs to be tested to determine if they have a mutation. It’s important to think about your personal and family history to determine if BRCA testing may be right for you. You should consider genetic testing if you have any of these signs of hereditary breast and ovarian cancer:

  • Ovarian cancer at any age
  • Breast cancer at age 45 or younger
  • Two breast cancers in the same woman, one before age 50
  • Two relatives with breast cancer, with one before age 50
  • Male breast cancer
  • Breast cancer at or before age 60 that is “triple negative” or ER, PR, HER2 negative breast cancer
  • Three or more relatives with breast, ovarian, pancreatic, or aggressive prostate cancer
  • Ashkenazi Jewish ancestry and a personal or family history of breast, ovarian, or pancreatic cancer

Healthcare providers with specialized training in genetics meet with individuals who have a personal or family history of cancer to determine if genetic testing would be useful. The evaluation usually takes one hour and involves taking a thorough personal and family history, and a discussion of the risks, benefits, and limitations of testing. After this evaluation, if genetic testing is warranted, the healthcare providers can coordinate genetic testing. Once your test results are received, they help create a personalized management plan based on your personal and family history and your test results.

Genetic testing for the BRCA genes is expensive. Comprehensive testing of both genes currently costs about $2,000 -$4,000. Most insurance companies will cover the testing if you have a significant personal and family history.

Q: I’ve already had BRCA testing and it was negative, does that mean my breast cancer is not genetic?

If you’ve had a negative BRCA test, it’s unlikely a mutation in a BRCA-1 or BRCA-2 gene caused your cancer. However, there could be a different genetic cause for your cancer. Each of us has between 20,000-25,000 genes. There are additional breast and ovarian cancer genes that have been discovered, and genetic testing for those also is possible. If you have a significant personal or family history of cancer, we recommend talking with you doctor to determine if additional genetic testing is warranted.

Q: Are other types of cancers inherited?

The majority of cancer is sporadic or something that happens by chance. Approximately 5 to 10 percent of cancers are caused by gene changes that run in a family. The BRCA genes are just two genes that are known to cause hereditary cancer. There are also genes that increase your risk for other types of cancer, including colon cancer, uterine cancer, and ovarian cancer, and others. If you’re concerned about your personal or family history of cancer, ask your doctor if a genetic risk evaluation may be helpful for you.

Q: Where can I learn more?

If you want to learn more about Hereditary Breast and Ovarian Cancer or BRCA mutations visit Facing Our Risk of Cancer Empowered or Bright Pink. You can also learn more about our Genetic Risk Evaluation and Testing Program.