BRCA Gene Mutations
What is BRCA gene and BRCA 1 and BRCA 2?
BRCA is an abbreviation that stands for “BReast CAncer gene,” pronounced “brah-kuh.”
BRCA1 and BRCA2 are two different variations of the BRCA gene that affect someone’s risk of developing certain forms of cancer. We all have BRCA1 and BRCA2 genes, but some people have an inherited harmful mutation in one or both of these genes. This mutation means that the gene doesn’t do its job of repairing the damaged DNA that can lead to breast and ovarian cancer. People who have inherited the BRCA gene mutation have a 50% chance of passing it on to their children.
Risk association for breast and GYN cancers with BRCA 1 and BRCA 2 carriers
55%-72% of women who inherit a BRCA1 gene mutation and 45%-69% of women who inherit a BRCA2 mutation will develop breast cancer by the time they are 70 to 80 years old. In comparison, only 13% of women in the general population with an average risk will develop breast cancer at some point during their lives.
About 21 out of 50 women with a BRCA1 mutation and 7 out of 50 women with a BRCA2 mutation will develop ovarian cancer by 70-80 years old. This is much higher than the rate for the general population, which estimates that less than 1 out of 100 women will develop ovarian cancer.
Deciding to get genetic testing
If you’re concerned that you may have a mutation in the BRCA1 or BRCA2 gene, you should first speak with your primary care doctor to figure out if it’s worth getting tested. Your primary care doctor may refer you to a genetic counselor. In general, genetic counseling and testing is recommended if you:
Have a family history of a BRCA gene mutation
Have two or more close relatives diagnosed with breast cancer before age 50
Have been diagnosed with ovarian or breast cancer
Have a male relative with breast cancer, a female relative with breast and ovarian cancer, or more than one relative with breast or ovarian cancer
You are of Eastern European (Ashkenazi) Jewish ancestry and have a close relative with breast or ovarian cancer
You can see if a genetic counselor is available in your area or online through The National Society of Genetic Counselors website’s “Find a Genetic Counselor” tool.
If you have a family member with breast or ovarian cancer, find out if they’ve been tested first for the BRCA gene mutation before getting tested. If they don’t carry the BRCA gene mutation, then you probably don’t need to get tested. Speaking with your primary care doctor or a genetic counselor, if available, can help you decide the best course of action.
How to get tested
If your primary care doctor or genetic counselor recommends the BRCA gene test, they will coordinate genetic testing for you. Genetic testing involves a simple blood draw or a saliva sample. Your sample is then sent to a lab to determine if there are any harmful gene mutations. Your doctor or counselor will let you know when to expect results. It usually takes several weeks. BRCA testing is usually covered by insurance plans, including Medicaid, if you meet certain criteria.
What to do with your results
Once you get your results back, you should go over them with a genetic counselor because they can sometimes be confusing. A positive test result means that you have BRCA1 or BRCA2 mutation. A negative test result means that a mutation wasn’t found. BUT if you already have breast or ovarian cancer, this negative result just means that the test didn’t find a mutation that caused your cancer and more testing might be recommended. If you have a variant of uncertain significance or VUS test result, this means that a mutation in the BRCA1 or BRCA2 gene was found, but it’s not known if this mutation is linked to a greater risk of breast or ovarian cancer or harmful in any way.
It’s very important to discuss your test results with your genetic counselor (or at the least, your primary care doctor) so they can explain what the results mean for you and next steps.
