Staci's Choice: A Pioneer in Preventing Cancer

Eighteen years ago, Staci Mishkin was one of the first women in the U.S. to take a genetic test for the BRCA gene mutation that is linked to breast cancer.

She joined a clinical trial because her mother, grandmother and both of her aunts died of breast cancer. When she tested positive, she decided to have her breasts and ovaries removed, and now she is the first woman in her family to reach age 50.

Watch as Doreen Gentzler tells her story, and see below for four questions and answers about BRCA's role in breast cancer. 

Eighteen years ago, Staci Mishkin was one of the very first women to take a genetic test for the newly-identified BRCA gene mutation that is linked to breast cancer. She joined a clinical trial because her mother, grandmother and both of her aunts died of breast cancer. When she tested positive, she decided to have her breasts and ovaries removed,...

Q. What is the BRCA gene, and what is its role in breast cancer?

A. BRCA is actually two genes: BRCA 1 and BRCA 2. Both are genes that produce proteins that suppress tumors -- a good thing. BRCA also plays a role in repairing DNA.

In some people, however, these genes may be mutated. When that happens, the patient has a higher risk of breast and ovarian cancer.

Mutations on BRCA 1 and 2 account for 5 to 10 percent of all breast cancers, according to the National Cancer Institute. However, because mutations to BRCA can be inherited, BRCA mutations account for 20 to 25 percent of hereditary breast cancer.

The NCI says 55 to 65 percent of women who inherit a harmful BRCA1 mutation -- and around 45 percent of women who inherit a harmful BRCA2 mutation -- will develop breast cancer by the time they turn 70. 

Men can have BRCA mutations as well; having the mutation on the BRCA2 gene in particular increases their risk for breast and prostate cancer. Both men and women with BRCA mutations may also be at risk for other cancers.

A BRCA mutation can be passed down from either your mother or father. If either parent has the mutation, you have a 50 percent chance of inheriting it.

Q. Should I be tested for BRCA mutations?

A. Remember, most people who develop breast cancer have no family history of it. However, if a close family member -- particularly your parent or your sibling -- has tested positive for the mutation, you may be a candidate for testing. Discuss the result with your doctor.

Specific types of cancer may also lead your doctor to suggest genetic testing.

People of Ashkenazi, or Eastern European, Jewish descent may also have a higher risk of BRCA mutations. The National Institutes of Health says people of Ashkenazi Jewish heritage are 10 times more likely to have mutations in BRCA1 and BRCA 2 genes than the general population.

Breastcancer.org has a helpful guide for learning more about your family history to learn if genetic testing is an option for you.

Q. What happens if I have the mutation?

A. Your doctor will help you create a plan for surveillance and treatment. Some patients step up their mammogram schedule to twice a year and add MRI screens every year, the Mayo Clinic reports. Your doctor may also suggest use of oral contraceptives.

Your doctor may also suggest use preventative use of chemotherapy drugs such as Tamoxifen. Some women have chosen to have preventative mastectomy to reduce their risk even more.

Your own plan is something that you and your doctor should work together to create.

Q. Who pays for BRCA mutation testing?

A. The Affordable Care Act made genetic counseling and BRCA mutation testing a covered, preventive service for people at high risk. If you are thinking about testing, talk first to your doctor and then to your insurance company.

You should make sure you have insurance coverage for genetic tests before having the test.

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