Understanding the BRCA Gene
and Breast Cancer
This past summer, I celebrated my 7-year cancerversary surrounded by my beautiful family. As a breast cancer survivor, I count my blessings every single day. I think back often to that mammogram that I almost rescheduled back in 2012, and I’m so thankful for that internal push to “get it over with”. In my case, early detection saved my life.
When I was diagnosed, I can’t even begin to tell you how overwhelmed I was with the news. It took me some time to process and deal with all the emotions; the fear, grief, anger, and my faith all carried me through tough treatment. I remember how difficult it was initially to process all the information being thrusted at me at once, it was challenging sifting through terminology and making life or death decisions regarding my treatment and care.
I was 53 years old at the time of my diagnosis, and I’ve learned that as we get older, our breast cancer risk increases. According to statistics from the Susan G. Komen® Foundation, the leading breast cancer non-profit organization in the country, the median age of women when diagnosed with breast cancer is 62. If you have an inherited gene mutation of the BRCA1 or BRCA 2 gene, your percentage of developing breast cancer is significantly higher.
After my lumpectomy, I was sent for genetic testing to determine if I had a mutation of the BRCA1 or BRCA2 genes. The resulting pathology discovered that there were two types of cancer cells in my breast: infiltrating ductal carcinoma which is the most common type of breast cancer diagnosed in women, and ductal carcinoma in situ or DCIS. 21% of women are diagnosed with DCIS. I also discovered that I did not have a mutation of either BRCA1 or BRCA2 genes. This information was crucial to know early on in the diagnostic phase of my breast cancer fight, and it helped my amazing team of doctors and surgeons at North Side Hospital in Georgia develop a treatment plan to get rid of the cancer for good!
As a breast cancer survivor, I spend a lot of time speaking with women across the country about my journey. I find that there are still so many women who don’t understand their risks for developing breast cancer. Sadly, it’s simple: if you have breasts, then you are at risk of getting breast cancer.
After my talks, a lot of people often ask me about inherited genetic risks, and the BRCA gene and breast cancer. I’ve spent a lot of time researching and understanding inherited gene mutations and breast cancer, and here are just some important facts to help you understand BRCA gene mutations and breast cancer:
- Everyone has the BRCA1 and BRCA2 genes as part of our DNA, these genes are responsible for preventing uncontrolled cell growth and abnormal cells from turning into cancer.
- Having a mutation of the BRCA1 and BRCA2 genes means that there is a change in the gene, which prevents it from working properly. Studies have found that people with a mutation of one or both of these genes are at a higher risk of developing breast and ovarian cancer. Those with a BRCA1 or BRCA2 gene mutation are known as “BRCA carriers.”
- BRCA1 and BRCA2 gene mutations are the most commonly known; 1 in 400 people in the US have this gene mutation.
- There are other gene mutations, besides BRCA1 and BRCA2, that can increase your risk of developing breast cancer. Consulting with a genetic counselor is a great place to start, they can recommend panel testing for specific gene mutations to determine your breast cancer risks. Genetic testing is also done with either a saliva or blood sample, which is a relatively painless procedure.
- Studies have also discovered that some ethnic groups have a higher risk of the BRCA1 and BRCA2 gene mutations. For example, Ashkenazi Jews have the highest risk of BRCA1 mutation at between 8%-10%. African-Americans have a higher percentage (3%) of the BRCA2 mutation while Hispanics have a higher percentage (4%) of the BRCA1 mutation. White, non-Ashkenazi Jews have an equal percentage of mutation of both the BRCA1 and BRCA2 gene (1%-2%) while Asians are the lowest ethnic group to have genetic mutations of either BRCA1 or BRCA2 (>1%)
- Men and women can both carry a mutation of the BRCA1 and BRCA2 genes and, if either is a carrier, can pass it on to their children. There’s actually a 50% chance of passing on the gene mutation to your children if you are a carrier.
- Men who are BRCA carriers can also develop breast cancer and are at a higher risk of developing prostate cancer.
- Not everyone who’s a BRCA carrier develops breast cancer, there are other risk factors involved. According to statistics, 7% of non BRCA1 carriers will develop breast cancer by age 70, while 55%-65% of BRCA1 carriers will develop breast cancer by age 70.
- If you know you’re a BRCA carrier, especially at a young age, you’ll be eligible for increased screenings for breast cancer. Depending on other factors, many BRCA carriers work with their doctors to find other ways to minimize their risks of developing breast or ovarian cancer.
Deciding to go for genetic testing to determine if you are a BRCA carrier is extremely sensitive. Especially since the risk of developing breast or ovarian cancer is much higher if you’re a carrier. I’ve found that most women our age go for genetic testing for their children and grandchildren, to give them information they can use to potentially save their lives.
Are you just starting on your breast cancer journey and have some more questions about the BRCA gene? Are you a breast cancer survivor who is also a BRCA carrier? I’d be honored if you’d share your story with us in the comments.
For anyone currently fighting breast cancer, I wish you and your loved ones lots of strength and healing.
Until next time,