Your DNA is like a blueprint that can be broken down into pieces called genes. These genes tell your body how to build important molecules like proteins.
Permanent changes in the DNA sequence of a gene are called mutations. These may affect the way your body reads the blueprint. Some mutations — like BRCA gene mutations — run in families and are associated with an increased risk for some cancers, like breast and ovarian cancer.
So, how do you know if you should get tested for the BRCA gene mutation? Here’s a breakdown of the risk factors and what it means to have this gene mutation.
Things don’t always go as planned inside your cells. Sometimes, cells grow too fast or DNA becomes damaged. Certain proteins — called tumor suppressor proteins — step in when these things happen and address the problem by slowing cell growth, repairing damaged DNA, and even directing some damaged cells to stop working altogether.
BRCA1 and BRCA2 are genes that code for tumor suppressor proteins. BRCA gene mutations may cause the body to build or fold these proteins incorrectly. This prevents them from doing their jobs.
Cancer can be caused by cells that grow out of control or damaged DNA. The cancers most associated with BRCA mutations are breast cancer and ovarian cancer.
BRCA mutations are uncommon, but they are inherited. The risk of having a BRCA mutation is linked to your family history.
You receive two copies of each of your genes — one from each biological parent. If one of your parents carried a BRCA mutation, you have a chance of having that mutation yourself.
If you have a family member with a known BRCA mutation or if you meet the screening recommendations, you can take a genetic test to check for BRCA mutations. This test uses a small sample of blood or saliva and usually takes about one month to receive results.
According to a study in JAMA, about of women with a BRCA1 mutation and 69 percent of women with a BRCA2 mutation will receive a breast cancer diagnosis by age 80. By comparison, about of all women will develop breast cancer during their lifetimes.
This trend holds true for ovarian cancer, too. The same study reported that about of women with a BRCA1 mutation and 17 percent of women with a BRCA2 mutation will receive an ovarian cancer diagnosis by age 80. This compares with of all women who will develop ovarian cancer during their lifetimes.
BRCA mutations may also increase the risk of other types of cancer. These include cancer of the fallopian tube, pancreas, and peritoneum, as well as skin cancers. Men with BRCA mutations also have a higher risk of breast, pancreas, and prostate cancer.
It’s important to remember that having a BRCA mutation doesn’t mean that you’ll develop cancer of any kind. While people with BRCA mutations do have a higher risk for these cancers, many people with BRCA mutations will never develop cancer.
Since the BRCA mutation is inherited, your ancestry may play a role in your risk for having a BRCA mutation. People with Ashkenazi Jewish heritage are at an increased risk for BRCA mutations. Dutch, French Canadian, Icelandic, and Norwegian people may also be more likely to carry BRCA mutations.
One in the journal Cancer looked at the relationship between ethnicity and BRCA mutations in the United States. It reported that BRCA mutations, especially BRCA1 mutations, were more likely among self-reported women with African or Latin American ancestry. The question of which mutations are more common in these groups is an area of current study.
Ethnicity may also play a role in who receives genetic counseling and testing. A in Cancer found that doctors may be less likely to discuss genetic counseling and testing with black women and Spanish-speaking Hispanic women at risk for carrying BRCA mutations.
This study and others like it can help doctors ensure that all people with risk factors for BRCA mutations have the same access to genetic services.
To assess your risk factors for BRCA mutations, your doctor may use a screening tool to gather information about your personal history and family history. Your doctor may ask questions like:
- Have you or a close relative received a breast cancer diagnosis before age 50 or before menopause?
- Have you or a close relative had cancer in both breasts?
- Have you or a close relative had both breast and ovarian cancer?
- Are you or a close relative a man who had breast cancer?
- Do you have Ashkenazi Jewish heritage?
- Do any of your relatives have a known BRCA mutation?
Your doctor may recommend that you talk to a genetic counselor to discuss the pros and cons of testing. A counselor can help you decide if genetic testing is right for you or your family. They can also help you understand test results and your options after testing.
For people who receive positive results from a genetic test for BRCA mutations, options include enhanced screening and risk-reducing procedures.
Enhanced screening usually means beginning breast exams and mammograms earlier and having them more frequently. In addition to breast exams, men with BRCA mutations may benefit from regular screening for prostate cancer.
Some people with BRCA mutations choose risk-reducing procedures like surgeries to remove the fallopian tubes, ovaries, or breasts to significantly lower the risk of developing cancer.
It’s important to know and understand your risk for the BRCA gene mutation. If you have any of the risk factors above, see your doctor about genetic testing and counseling. If you’ve already been diagnosed with ovarian cancer, you may also want to find out if you have either of the two BRCA gene mutations.
If you receive a positive test result, speak with your doctor about all of your preventive options.