BRCA
What it is and what you need to know
“Save second base,” “save the ta ta’s,” “save the girls” and a pink ribbon are sayings and symbols that are all too familiar. So you might be thinking, “I know, I know…Do self-breast exams, get your mammogram…we got it! We know what to do now!” However, there is something fairly new on the horizon. Have you heard of the BRCA gene? Don’t worry if you haven’t—but you will be seeing more about it in the future.
BRCA stands for breast cancer susceptibility gene. BRCA 1 and BRCA 2 are human genes that are in a class of genes called tumor suppressors, which means their primary role is to suppress or eliminate tumors of the breast and ovaries. We all have these genes; they are part of our DNA. The problem is when the genes are mutated, which causes them to fail in doing their job of suppressing tumors of the breast and ovaries.
According to the Mayo Clinic, having this gene mutation is fairly uncommon. BRCA 1 and BRCA 2 are responsible for about 5 percent of breast cancers and about 10-15 percent of ovarian cancers. Therefore, BRCA genetic testing will never replace self-breast exams and your yearly mammogram. Unfortunately, if you have a mutation of one of these genes your chances of getting breast or ovarian cancer greatly increase.
According to the American College of Obstetrics and Gynecology, women with either BRCA mutation have a 65-74 percent chance of developing breast cancer, a 39-46 percent chance of developing ovarian cancer with the BRCA 1 mutation and a 12-20 percent chance of developing ovarian cancer with the BRCA 2 mutation.
Who should get tested?
- Women with a personal history of breast and/or ovarian cancer
- Women with a close relative that has premenopausal breast or ovarian cancer
- Women of Jewish decent with breast cancer diagnosed at age 40 or younger or who have ovarian cancer
- Women with breast cancer at age 50 or younger or who have a close relative with ovarian cancer or male breast cancer at any age
- Women with a close relative with a known BRCA mutation
- Women with breast cancer in both breasts
What to do before testing:
Meet with your doctor to determine whether this is an appropriate step for you. Once that decision has been made, your doctor will send you to a genetic counselor. The genetic counselor will discuss with you the risks and benefits of testing.
What if my test is positive?
A positive test result means that you have a mutation in one of the breast cancer genes. There are several choices to make. Options include:
- Increased screening: breast exams every six months and mammograms with MRI (magnetic resonance imaging) every year.
- Using oral contraceptives: This has been shown to reduce ovarian cancer in BRCA mutation carriers; however, your risk of breast cancer may go up.
- Take a medication to reduce your risk of cancer called Tamoxifen, which is a type of chemotherapy.
- Undergo preventative surgery: mastectomy and total hysterectomy.
What if my test is positive?
That is a scary question that two local women have faced. They both chose to undergo preventative surgery. Bridget Vani, local mom from Lake Quivira, says, “You must have a plan before you go into testing. Why do the testing if you don’t know what you are going to do about it?” Bridget knew her plan, which was to proceed with a total hysterectomy and bilateral mastectomy. The surgeries were done in a staged fashion. “It was a tough decision because I didn’t have cancer yet, but my doctor said, ‘What would you do if you were getting on a plane that had a 75 percent chance of crashing? Would you get on?’ His analogy helped confirm my choice….I want to live and be there for my four boys.”
Over the past year, a local teacher from Liberty, Cammy Neth, has had a similar experience. After watching her grandmother pass away too early and her mother experience the trials of cancer, she decided to undergo genetic testing. Her tests came back positive for the mutation and she, like Bridget, decided to have a bilateral mastectomy with reconstructive surgery and a total hysterectomy. After meeting with her surgeon she says, “Being proactive was my best option. The surgery was difficult, of course, but I think my recovery was easier than if I had had cancer and then had surgery. I knew once surgery was over I would be able to get back to enjoying my life. This would just be a surgery I could recover from and move on.”
For more information regarding Cammy’s surgery and recovery, please visit her blog, www.CammysSurgery.blogspot.com, and watch for more information from Bridget Vani as her foundation, Bee Proactive, grows.
As always, please discuss any health concerns with your physician.
Melanie Yunger is a local wife, daughter, mom and sister who encourages you to Bee Proactive!