The BRCA gene, or BReast CAncer gene, plays an essential role in repairing your body’s DNA. When there’s an abnormality in these genes, however, it greatly increases your risk of developing certain cancers — most notably breast and ovarian cancer.
With genetic testing, you can find out if you carry this mutation and what that means for you or your family members.
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What Is the BRCA Gene?
There are two types of BRCA genes: BRCA1 and BRCA2. Both genes are responsible for producing proteins involved in repairing DNA damage. Each person has two copies of each BRCA gene — one from each biological parent.
“One copy is normal and totally doing its job, and the other copy might be not working because it contains a mutation,” says Dr. Judy E. Garber, the chief of the Division of Cancer Genetics and Prevention at the Dana-Farber Cancer Institute in Boston.
Genetic mutations occur when there is an error during the cell division process.
“Every time a cell divides, which is happening in your body all the time, they have to completely reproduce their DNA so that one copy can go into each of the two daughter cells,” Garber says.
These processes make mistakes, but the body has evolved to fix those errors.
“BRCA1 and 2 are very important to fixing errors in the DNA,” Garber adds.
However, if those errors are not repaired, they can lead to the development of cancer.
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Risks of BRCA Gene Mutations
A mutation in one of the BRCA genes can put you at higher risk for:
“The genes work well even when there’s only one copy,” Garber says. “But if there is only one copy and something happens to damage that copy in a breast, an ovary, a pancreas or a prostate, then that cell that no longer has any working BRCA gene is no longer normal, and it can become a cancer cell.”
Why in the breast, ovary, prostate and pancreas more than other genes? “I don’t think anybody knows that,” Garber adds.
“The BRCA1 gene gives a high risk of breast cancer and ovarian cancer and a much lower risk of either pancreas or prostate cancer,” Garber says. “BRCA2 gives lower risk of ovarian cancer and a much higher risk relative to BRCA1 of pancreas and particularly prostate cancer.”
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Should You Get BRCA Gene Testing?
You might be a good candidate to for BRCA testing if you have any of the following:
— Personal history of breast cancer.
— Personal history of triple-negative breast cancer, a type of breast cancer that’s often more resistant and accounts for 10 to 15% of all breast cancers, according to the American Cancer Society.
— Personal history of male breast cancer.
— Personal history of two or more separate cancers.
— Family history of breast cancer, ovarian cancer or both.
— A family member with a known BRCA1 or BRCA2 mutation.
— Ashkenazi Jewish ancestry. Those of Ashkenazi Jewish descent have a higher risk for a BRCA gene mutation. In fact, 1 in 40 Ashkenazi Jewish women carries the mutation, according to the Centers for Disease Control and Prevention.
Personal history means you have personally received a medical diagnosis either presently or in the past. Family history usually includes first- and second-degree relatives, Eng says.
“The closer they are to you, the bigger the red flag is,” says Dr. Charis Eng, chair and founding director of Cleveland Clinic‘s Genomic Medicine Institute in Ohio.
If there is a family red flag, Eng recommends testing for the mutation in the youngest relative with a relevant cancer diagnosis.
Testing when there is a personal or family history of relevant cancer diagnoses will give you a clear result: A negative test means they are not carrying the BRCA gene mutation and cannot pass it on to children.
On the other hand, if you test someone without any personal or family history of carrying the BRCA mutation and they test negative, results aren’t as clear. That person may not have inherited the mutation present in the family, and the hereditary risk is unclear.
Testing for the BRCA Gene
BRCA testing is done using a blood or saliva sample that can be analyzed to look for mutations in the BRCA1 or BRCA2 gene in your DNA. You can ask your primary care physician, oncologist, breast surgeon or gynecologist if you’re interested in genetic testing.
Pre- and post-test genetic counseling is key to informed decision making. It helps the patient understand and process information, including weighing the emotional benefits versus risks of your test results.
Pre-test counseling
Pre-test genetic counseling users educate the patient. They’ll talk through many of the following questions:
— What is genetics, and what are the BRCA genes?
— How are BRCA genes inherited?
— Is BRCA genetic testing right for you?
— What does it mean when the BRCA test is a true positive, and what does it mean if it’s negative?
Post-test counseling
Genetic counselors will also help in discussing your personal risks, test results and options for next steps.
BRCA tests are highly accurate. While experts say they may not be 100% accurate, the error rate is extremely low. Laboratories follow strict protocols to ensure mistakes do not occur.
When to Get Tested
If you fall under the above criteria and think you should do BRCA genetic testing, testing recommendations vary.
“For women, especially because of the high breast and ovarian cancer risk, we recommend that people think about getting tested around age 25, because that’s when we start breast cancer screening,” Garber says.
For men, though there’s no reason they can’t do it as early as 25, there’s not really a need until later in life. Garber says that if men carry the BRCA1 gene mutation, they have a 7 to 26% higher risk of developing prostate cancer than the general population; and if they carry the BRCA2 mutation, a 19 to 61% higher risk.
“They wouldn’t start most of their screening until they were 40,” Garber says. “The main time to think about this is when they’re ready to have kids and want to think about whether their partner would have a mutation if they have (a child).”
If only one parent carries the BRCA gene mutation, you have a 50% risk of passing it on to a child. If both parents carry a BRCA gene mutation, the risk is even higher.
Why Get BRCA Tested
People often get genetic testing to see if they are at risk of developing certain cancers associated with BRCA mutations. This way, they can take steps to try to protect themselves from the increased cancer risk.
Breast cancer
Breast cancer screening is critical to early detection and diagnosis. However, it’s important to start early if you have a BRCA mutation.
“We tell women to start their mammograms in their 40s or 50s, but if you knew your breast cancer risk was much higher — as it would be if you had BRCA1 or 2 mutation — you would want to start younger,” Garber says.
That’s because your risk of cancer could occur earlier in life.
Prophylactic surgery, a procedure that is done to prevent the development of cancer, is another option. A double mastectomy involves the surgical removal of both breasts. In some cases, as much breast tissue as possible is removed, while other cases require a complete removal of the breast, including the nipple. However, it’s important to note that even with total mastectomy, not all breast tissue that may potentially be cancerous can be removed, according to the National Cancer Institute.
If you’re at high risk for breast cancer, the decision to have preventive surgery is a major one and should be discussed with your doctor.
Ovarian cancer
Currently, there is no early detection tool for ovarian cancer. However, BRCA testing may help you decide whether or not to get preventive surgery.
If you did BRCA testing, “you might agree that you need to remove those ovaries and the fallopian tubes to get rid of that risk before cancer develops,” Garber says.
Why You Might Not Get Tested
There are many benefits to getting tested, but why might people choose not to get tested for the BRCA gene mutation?
“Some people are worried about discrimination,” Garber says, adding that people may worry that an employer may not give them a job because they’ll be perceived as ill. “Genetic discrimination is a real thing.”
However, there are laws to protect against this. The Genetic Information Nondiscrimination Act, or GINA, was signed into law in 2008. The GINA law protects individuals against discrimination in health coverage and employment based on their genetic information.
Garber says that others are afraid that they’ll be very anxious and worry about risk, but genetic testing can be a powerful tool.
“People decide when in their life they’re ready to know this information,” Garber says. “It’s meant to be empowering, but it’s a little scary, too.”
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Should You Get Tested for the BRCA Gene Mutations? originally appeared on usnews.com
Update 03/16/23: This story was previously published at an earlier date and has been updated with new information.
