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10 Things You Need to Know About the BRCA Genes

Publication: Breast Cancer Resources Center of Austin Newsletter, Austin

This May movie star Angelina Jolie announced to the world that she is a BRCA 1 carrier, and that she had decided to have a prophylactic mastectomy to reduce her risk for breast cancer. This announcement in the New York Times brought global attention to the topic of hereditary breast cancer and BRCA 1 and 2 mutations. Since breast cancer is so common, many women are now asking themselves: what are the BRCA genes, do I need to be tested, and why is this information important?

Here are the top 10 things you need to know about the BRCA genes and hereditary breast cancer:

 1)    What are the BRCA genes?

The BRCA genes are tumor suppressor genes. Their job is to prevent uncontrolled cell growth and abnormal cells from turning into cancer.  Every person has two copies of the BRCA 1 gene and two copies of the BRCA 2 gene.  A person who is a BRCA carrier has a mutation or a change in one of the BRCA genes that prevents the gene from working properly.  Individuals with BRCA mutations have higher lifetime risks for cancer than other people because the gene is not functioning correctly.   

 2)    Where do BRCA mutations come from?

Mutations in the BRCA genes are typically inherited from a parent and are passed down from generation to generation.  A person who has a BRCA mutation has a 50% chance of passing the mutation on to each of their children.  These mutations do not skip generations but sometimes appear to, since not all people with BRCA mutations develop cancer.  Both men and women can have BRCA mutations and can pass them onto their children.

 3)    How common are BRCA mutations?

It is estimated that close to 1 million people in the United States have a BRCA mutation BUT less than 10% are aware that they have a mutation that increases their risk for cancer.  About 10% of all breast cancer is due to a BRCA mutation.  This means that the majority of breast cancer, about 90%, is sporadic and happens by chance.

 4)    What types of cancer do the BRCA genes cause?

Mutations in the BRCA genes cause Hereditary Breast and Ovarian Cancer Syndrome or HBOC. Women with a BRCA mutation have higher risks for breast and ovarian cancer.  The lifetime risk for breast cancer is estimated to be 55-85%, and women who have already had breast cancer have an increased risk for a second breast cancer. The lifetime risk for ovarian cancer is 27-44%.  The BRCA mutations may also increase a person’s risk for prostate, melanoma, and pancreatic cancer.

 5)    Do these genes affect men?

YES! Men are often forgotten in discussions of the “breast” cancer genes.  Men with BRCA mutations have a 20% lifetime risk for prostate cancer, a 6% lifetime risk for breast cancer, and elevated risks for pancreatic cancer and melanoma.  Just like women, men with BRCA mutations need increased cancer screening.

 6)    Is a mastectomy the only option for BRCA carriers?

No. While Angelia chose to have a bilateral mastectomy, there are other options BRCA carriers can consider to reduce their cancer risks. Women with BRCA mutations can also consider increased breast cancer screening that includes monthly self-breast exams, clinical breast exams with their doctor two times a year, annual mammograms, and annual breast MRIs.

In addition, some women may have the option of taking chemoprevention, a medication that reduces breast cancer risk. Women can also have increased screening for ovarian cancer or can consider removing their ovaries to reduce their risk for ovarian cancer after completion of childbearing (usually around age 35-40).

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.

 7)    How do 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 is important to think about your personal and family history to determine if BRCA testing may be right for you. Some of the signs of hereditary breast and ovarian cancer are:

    Ovarian cancer at any age
    Breast cancer at age 50 or younger
    Breast cancer in both breasts
    Two relatives with breast cancer with one before the age of 50
    Breast and ovarian cancer in the same person
    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 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, these healthcare providers can coordinate genetic testing and once your test results are received, 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 $4000. But a recent U.S. Supreme court decision is expected to result in greater competition and lower pricing for genetic testing. Most insurance companies will cover the testing for individuals with a significant personal and family history.

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

If you have already had BRCA testing and it was negative, it is unlikely that a mutation in a BRCA 1 or 2 gene caused your breast cancer. But this does not mean there couldn’t be a different genetic cause for your cancer. Each of us has between 20,000-25,000 genes, and there are other genes that are linked to increased breast cancer risks. 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 that you talk with your doctor to determine if additional genetic testing is warranted.

 9)    Are other types of cancers inherited?

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

 10)   Where can I learn more?

If you would like to learn more about Hereditary Breast and Ovarian Cancer or BRCA mutations visit Facing Our Risk of Cancer Empowered at www.facingourrisk.org or Bright Pink at http://www.brightpink.org/.  You can also learn more about genetic risk assessments in the Austin area through the Texas Oncology Genetic Risk Evaluation and Testing Program at www.texasoncology.com

Gayle Patel is a certified genetic counselor who has been working with families in central Texas for 7 years.  Gayle recently joined Texas Oncology as their first genetic counselor.  She coordinates the Genetic Risk Evaluation and Testing Program (GREAT) at Texas Oncology and provides education and operational support to Texas Oncology Providers who participate in the Genetic Risk Evaluation And Testing program.

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