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Gene analyzing test could help identify cancer risk

By Staff | Apr 1, 2009

Testing for genetic mutations that cause cancer may save millions of lives, leading a group called the “BRAC Pack” to conduct a national movement to convince people to have a simple blood test that analyzes genes.
If a person tests positive for two genetic mutations, BRCA 1 and BRCA 2, she carries a higher inherited risk of contracting breast or ovarian cancer.
Genetic counselors stress that the testing should be equally important for women and men, although risks of breast cancer are much higher in women.
“In the general population, 1 in 500 people are positive with the mutation,” said Dr. Melanie Bone, an ob-gyn from West Palm Beach working to promote testing across the state. “We are trying to raise awareness of how to identify if they are in the high-risk group.”
Other ethnicities, including patients from Eastern European Jewish descent, have an increased risk of testing positive for either BRCA mutation, she said, or a 1 in 40 chance.
A person with the mutation has an 87 percent chance of developing cancer in their lifetime and a 50 percent chance of passing it to children.
According to Dr. Jane Daniels, an ob-gyn in Fort Myers, the test is a simple blood test with the results available within two weeks. She said a person is more likely to have the BRCA mutation if he or she has family members with it.
Eighty percent of people who get breast cancer have a family history, but having the mutation does not always mean someone will develop cancer, Daniels said.
Knowing whether the mutation is present has led many women to make preventative decisions to avoid developing cancer. Many women who test positive for the mutation and have a family history of breast cancer are electing for voluntary mastectomies or surgeries that remove the breast.
A 2007 study published in the Journal of Clinical Oncology found that the number of women removing both breasts after being diagnosed with cancer in one breast rose 150 percent between 1998 and 2003.
Kristy Kimball and Cynthia Kimball-Humphreys, sisters who manage the Kimball Family Foundation in Jacksonville, assist with the movement that advocates for genetic testing. Both have received double mastectomies and were diagnosed with breast cancer.
“It’s a personal choice. People talk with their doctors and genetic counselors,” said Kimball. “There are some people who find out if they have BRCA 1 or BRCA 2 and decide not to have preventative surgery.”
Both said they have younger sisters who chose not to have preventative surgery and are closely monitored on a regular basis.
They recommend that people at least receive the test regardless of how they use the information. It costs approximately $3,000 and is often covered by insurance.
“The foundation’s proactive aim is to help women with the costs. Some women don’t have insurance,” said Kimball.
According to Bone, patients who opt for close surveillance can receive annual mammograms, sonograms or MRIs of the breast at least four times a year.
She also said a full mastectomy reduces the risk of cancer by 90 percent, while using medications such as Tamoxifen only reduces the risk by half.
For more information on genetic testing, visit: www.inheritedrisk.com.