A simple blood test: Genetic mutations and breast cancer

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Published October 23, 2012

| FoxNews.com

When you’re diagnosed with breast cancer at a young age, you have a lot of questions. The biggest question is why. Why did this happen to me now, when I am only 30 years old? A simple blood test answered the question for me. Once I started treatment, my oncologist tested me to see if I had a genetic mutation called BRCA1 and BRCA2. BRCA1 and BRCA2 are tumor suppressors, and mutations of these genes are strongly linked to breast and ovarian cancer. These mutations are inherited from a parent who has the mutation, and if positive, the risk for breast cancer is extremely high. I tested positive for BRCA1 mutation, and my risk for breast cancer was 87 percent. Many young women who have triple negative breast cancer also have BRCA1 mutations. BRCA mutations are mostly found in Jewish people who are from Eastern Europe, also known as Ashkenazi Jews. I am Jewish, and my great-grandparents were from Austria and Russia.

When a woman is diagnosed with breast cancer and also finds out she carries a BRCA mutation, mastectomies are frequently advised. According to Memorial Sloan-Kettering Cancer Center in New York City, if a woman has already developed breast cancer in one breast, she has a 25 to 30 percent chance of a second breast cancer within 10 years of original diagnosis. Additionally, if you are BRCA positive but have not yet been diagnosed with breast cancer, some women have preventative mastectomies to try and prevent breast cancer. Mayo Clinic research shows that preventative mastectomies can reduce breast cancer risk by 90 percent and taking the pill Tamoxifen preventatively can reduce risk by 50 percent. These are very personal decisions to make, and should be discussed with a trusted medical professional.

Women with BRCA1 mutations, myself included, are at a greater risk for ovarian cancer than the general population. My risk is about 40 percent by the time I am 70 years old. Since ovarian cancer tends to be a very silent cancer with very few symptoms, I have to start being screened by a high-risk gynecologist every six months. At some point within the next 10 years, I must have my ovaries removed since the screening for ovarian cancer isn't as reliable as a mammogram. There are many things to take into consideration when having ovaries removed, such as family planning, early (and immediate) menopause, and risk for younger onset of osteoporosis. The major benefit of removing healthy ovaries is reducing risk for ovarian cancer by 90 percent. That’s a powerful statistic.

Now, before anyone reads this and demands their doctor do a blood test, it should be stated that BRCA mutations are considered rare. According to the Mayo Clinic, only five percent of breast cancer cases and 10 to 15 percent of ovarian cancers are caused by BRCA mutations. There are certain groups who should consider genetic counseling and possibly being tested. If there’s a history of breast cancer at a young age in two or more close relatives such as parents, siblings or children, a male relative with breast cancer, a family member with both breast and ovarian cancer, a family member with bilateral breast cancer, relatives with BRCA1 or 2 mutations, and if you are of Ashkenazi Jewish background and family members with a history of breast or ovarian cancer. A parent who has the mutation has a 50 percent chance of passing the mutation on to their child. It is important if you fall into these categories to see a genetic counselor, so you can weigh your risks for certain cancers and also be better in charge of your health.

Learning you have a BRCA mutation can be upsetting and confusing. When my oncologist told me the results of my test, I was very shocked and yet at the same time, at peace. I was relieved to know I did not get cancer because of any of my lifestyle choices. I was relieved I had a mastectomy, because if not, I would have had to have another surgery. I was upset I was still receiving bad news a month or so into chemotherapy. It’s upsetting to know I still have a lot of tough choices ahead of me when I start a family. Do I have a child, either naturally or through a gestational carrier, and risk passing along this mutation? Do I adopt and give up the idea of having a biological child? Do I push my limits keep my ovaries as long as possible? Having healthy ovaries removed comes along with a lot of side effects. With cancer research, a lot can change in a year. Even more can change in five years. I try to remind myself this when I get upset about having this mutation. The most important thing to do as a cancer survivor is to stay positive, and remain hopeful that no matter what, all things are up from here.

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Annie Goodman is a producer for 'Your World With Neil Cavuto' at Fox News Channel in New York City. Look for more articles and updates from Annie on her fight against triple negative breast cancer on FoxNewsHealth.com throughout the month of October. You can follow Annie on Twitter at @annieg917

 


 

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