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Genetic Testing
Amy Sowder

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When JoEllen Hunt, 53, was first diagnosed with breast cancer 19 years ago, she had no idea she had inherited a mutated gene that causes breast and ovarian cancer.

“I went through chemotherapy for six months and was cancer-free for 10 years,” Hunt, a 22-year veteran nurse, said. “But, the breast cancer came back.”

Hunt then had a mastectomy. And as she fought to become well, her 44-year-old sister also fell victim to the disease, and her mother lost a battle with Hogkin’s Disease. Both died in 1999.

In 2004, Hunt faced another harsh reality. Through an exploratory hysterectomy, ovarian cancer was found throughout various parts of her lower abdomen.

After Hunt began treatment for the ovarian cancer, her oncologist suggested genetic testing for cancer-causing genes.

Most cancers are sporadic, but about 10 percent of cancers are hereditary, according to Myriad Genetic Laboratories Inc. The majority of hereditary breast and ovarian cancer is due to a mutation in either the BRCA1 or BRCA2 genes in the body.

These mutations can be inherited from your mother or father and can be passed down to your children, said Pat Liebenguth, registered nurse for Baptist Hospital who handles patients with cancer.

“When considering genetic testing for these particular cancer-causing genes, we look for red flags in family history,” Liebenguth said. “If patients meet the variety of criteria suggested, we advise them to test for the genetic mutation.”
The risks for developing ovarian and breast cancer drastically increase for individuals who test positive for a BRCA mutation, according to Baptist Hospital staff.

Seven percent of women are said to be at risk for breast cancer. That risk percentage jumps to 56 to 87 percent for those who carry BRCA mutation.

The same drastic increase in risk can be seen in ovarian cancer. Less than 2 percent of women are at risk for ovarian cancer, but with a BRCA mutation that number increase to 27 to 44 percent.

Through a blood test, Hunt tested positive for the BRCA mutation. Knowing that her 33-year-old daughter had a 50 percent chance of inheriting the gene, she convinced her daughter to test for the genes. Her daughter tested negative for both genes. Baptist and Gulf Breeze Hospitals are the only hospitals in the Northwest Florida area conducting genetic testing. Approximately 40 breast and five colorectal genetic tests have been administered over the last year.
Four of the 40 breast tests came back positive.

Genetic testing for hereditary breast and ovarian cancer costs arbout $3,200. Most health insurance plans cover genetic testing because it is now viewed as a preventative health measure. Typically, 90 percent of the cost is covered.

“Knowing that my daughter doesn’t have the gene is very relaxing for her and I,” Hunt said. “I was not only thinking about my daughter, but my granddaughter, too.”

What should I do if a healthy member of my family test positive for the gene?
1. Give yourself monthly breast exams starting at an early age.
2. Get semi-annual clinical breast exams starting between 25 and 35.
3. Investigate chemoprevention as another way of managing the genes.
4. Take drugs such as Tamoxifen, which have been shown to reduce the risk of breast cancer in high-risk women.
5. Oral contraceptives may reduce the risk of ovarian cancer in women with BRCA1 or BRCA2 mutations.
6. Preventive surgery is also an option.

LEARN MORE:
For more information on genetic testing for breast, ovarian and colorectal cancer, call Baptist HealthSource at (850) 434-4080.

 




 

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