What is BRCA Mutation?
In our DNA, the BRCA gene functions a protein that suppresses tumors to prevent cells from rapidly growing and dividing uncontrollably. Scientists have also found that the BRCA gene repairs damaged DNA and plays a pivotal role in maintaining the stability of a cells genetic information.
However, when the BRCA gene is mutated, you have a higher risk of developing cancer. Women who have a BRCA mutation are 3 to 7 times more likely to develop breast cancer. Their likelihood of developing ovarian cancer increases as well. Men with a BRCA 2 mutation are more likely also to develop breast cancer and prostate cancer.
BRCA 1 and BRCA 2 Risks
BRCA 1 mutation increases the risk of cervical, uterine, colon cancer, and is often associated with the development or triple-negative breast cancer. BRCA 2 increases the likelihood of stomach, gallbladder, and bile duct cancer, plus melanoma. Both gene mutations increase the risk of breast cancer, ovarian cancer, and pancreatic cancer.
The process of testing for a hereditary BRCA mutation encompasses a talk with your doctor. From there, your doctor may refer you to a genetic counselor. The genetic counselor will ask questions about your family’s health history and your own to determine which genetic test is right for you.
Should I get Tested?
Genetic testing will clear your mind of any uncertainties and will give you choices to make the most informed decisions regarding your health. If your family has a history of cancer, then you may have a higher risk of developing cancer. Genetic testing will be able to confirm if you are at an increased risk.
If the results do return positive, then you can be proactive and be vigilant of early detection by doing regular clinical breast exams, mammograms, or self-breast exams. Keep in mind that you may get overwhelmed during and after the process. Talk to a professional if you begin to become too overwhelmed, distant, or uneasy.
How to get Tested
Once you know which genetic testing is right for you, the genetic counselor will take a sample of your DNA to determine the gene mutations. You also have the option of doing an at-home genetic test that is available online. 23 and Me, Color BRCA Test, and Myriad Genetics provide at –home genetic test kits for BRCA. After a few weeks, the results will be in, and your doctor genetic counselor will notify you if you have a BRCA mutation.
Understanding the Results
There are several outcomes, your results may come back a negative BRCA mutation, or you may have a positive BRCA mutation, but not have cancer. With the latter result, you are at an increased risk of developing cancer and may want to consider scheduling cancer screenings regularly. Also, ask your doctor the signs and symptoms of breast and ovarian cancer.
Another outcome is that you have a BRCA mutation and unfortunately cancer, too. Your doctor may consider different treatment options that can target BRCA-mutates cancer cells.