BRCA Genes: What’s your Breast cancer risk?

By: Dr. Christine Horner

On May 14, 2013, the world woke to the shocking news that Angelina Jolie, a young actress and humanitarian graced with exceptional beauty and fame, and a mother of six, had undergone a double mastectomy and breast reconstruction. A blood test revealed that she had the BRCA1 gene mutation. Her doctors told her that her risk of developing breast cancer was 87 percent. Angelina said that the reason she decided to let the public know about her health situation was to raise awareness about this genetic condition and to help other women not to be afraid to take action. Surgery may have been the best course of action for Ms. Jolie, but it may not be for many other women with the BRCA gene mutations.
What BRCA Genes Do
The BRCA1 and BRCA2 genes are classified as tumor-suppression genes.

The acronyms come from the full names of the genes: breast cancer susceptibility gene 1 and breast cancer susceptibility gene 2. They give instructions for proteins to suppress tumor growth and to help repair damaged DNA. Your DNA is a frequent target for assaults from a variety sources, especially from oxygen free radicals and toxins. Because injuries are common, your body keeps a repair crew on call to fix the damage.

But, if the crew lacks the right tools to repair the DNA as it does with BRCA gene mutations misinformation can be passed on that may lead to cancer. Specific types of mutations of the BRCA1 and BRCA2 genes are associated with a significantly higher risk of breast and ovarian cancer. These abnormal genes also increase the risk of other cancers including cancers of the cervix, uterus, pancreas, colon, stomach, gallbladder, and skin (melanoma). Men can also have a BRCA1 mutation and they are at a higher risk for developing prostate cancer at a younger age.

Most women do not carry the BRCA mutations. In fact, over 99 percent of us do not. Only about 5 to 7 percent of women diagnosed with breast cancer have this defect. This means that for the vast majority of women, the major risk factors for developing breast cancer are not genetic, but rather come from influences under our control, such as diet and lifestyle. These same diet and lifestyle factors also impact the risk of breast cancer in women with malfunctions in their BRCA genes.
Should You Be Tested for BRCA1 and 2?
Because problems in the BRCA genes are uncommon, testing is not routinely recommended. Women with a strong family history of breast and ovarian cancer, especially diagnosed at younger ages, may want to seek genetic counseling. There are many controversial issues regarding genetic testing that you should fully explore with your doctor before you consent to the test. If you do decide to be tested for the BRCA genes, make sure you educate yourself as much as possible about all of your options.
How to Dodge the BRCA Bullet
The most important point for you to know is this: Not everyone who has a BRCA gene mutation develops breast cancer. Estimates currently are about 80 percent of women with this defect will develop breast cancer if they live to be eighty years of age 20 percent will not. When the family lineages for those who carry the BRCA gene mutations have been traced back in time, the risk of breast cancer was three times lower 100 years ago.
With this news, two important questions may have popped up for you:
Why do some women with the gene mutations avoid cancer? And why was the risk much lower in the past? No doubt the answers are linked to diet and lifestyle choices just as they are for women who do not have this genetic defect.

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