A simple blood test can determine whether a woman carries a mutated gene and is likely to get breast cancer, but making a decision based on those results is anything but easy.
“As you can imagine, there is a lot going on in the decision making process,” said Cecelia Bellcross, of the Emory University School of Medicine, “and (in) understanding what it means to be tested, what are the options and what are the ramifications for family members.”
Experts say women with breast and ovarian cancer in their families should talk to their doctors about genetic testing. For some it can lead to a the very difficult decision whether to undergo a preventive double mastectomy to lower cancer risks.
Actress Angelina Jolie announced Tuesday she had a double mastectomy after learning she carried a gene that made her extremely likely to get breast cancer. In an op-ed in the New York Times, Jolie, 37, said her decision to have preventive surgery was spurred in part by the experience of watching her mother die young from cancer. Her six children, she wrote, “asked if the same could happen to me.”
As more women are tested for the gene mutations linked to a high risk of breast cancer, more face the same dilemma. Most who test positive for a BRCA mutation do not immediately opt for radical surgery, experts say, but the procedure has become more common as a way to gain peace of mind and, potentially, many years of life.
“I don’t feel any less of a woman,” Jolie wrote. “I feel empowered that I made a strong choice that in no way diminishes my femininity.”
Advances in reconstruction have led to smaller scars, less side effects and better cosmetic results.
“There are thousands of women just like her and I think it’s wonderful that she is opening up about this,” said Stephanie Moore, a 38-year-old Newnan mother of two, who chose a double mastectomy after being diagnosed with early stage cancer.
Moore was 37 when she discovered a small lump in one breast. She had wanted to get genetic testing but her insurance did not cover it. After being diagnosed she had to choose between a lumpectomy or more drastic measures.
“I wanted to be more aggressive,” Moore said. “I remember when I first heard the word, ‘cancer.’ I never wanted to go through that again.”
Moore underwent reconstructive surgery using her own body tissue immediately after the double mastectomy.
“To wake up from surgery and have both breasts be gone can be traumatic. I had my reconstruction at the same time …You wouldn’t believe how the body can bounce back. I have absolutely no regrets.”
Bellcross, who directs Emory’s Genetic Counseling Training Program, said she typically meets one-on-one before a woman gets the test to review family history and discuss the procedure, which aims to determine if harmful mutations in BRCA genes are present.
BRCA1 and BRCA2 are two types of tumor-suppressing genes. In normal cells, BRCA1 and BRCA2 help stabilize the cell’s DNA and help prevent uncontrolled cell growth. But mutations in these genes have been linked to both breast and ovarian cancer.
Only 3 to 5 percent of women who develop breast cancer have a BRCA mutation. But for those with the mutations, the chance of developing breast cancer is as high as 87 percent. And the onset of cancer tends to take place at a younger age.
Selvi Palaniappan, who coordinates the Northside Hospital Hereditary Cancer Program, said the program last year tested about 500 patients, up from 100 in 2005.
“A positive genetic test could not only affect you, but it could affect your children, your siblings, your nieces, nephews and other relatives,” she said.
Genetic testing, “really is about making sure that health care providers have the information they need to make sure that you are followed properly.”
Palaniappan’s recommends tests for people who had had breast cancer at a young age, anyone who has had ovarian cancer and those who have not had cancer but have a strong family history of breast or ovarian cancer.
“I can’t tell you how many patients are relieved that these types of cancers are not a high risk for them,” Palaniappan said. Some people, however , may not want to know.
The test can cost hundreds or thousands of dollars, and experts say they are more likely to be approved by insurers than previous years. If your insurance plan began on or after Aug. 1, 2012, the Affordable Care Act requires coverage for genetic testing when recommended by a provider.
Age plays a role in decisions after a positive result, Bellcross said. A childless woman in her mid-20s may decide to increase surveillance by getting MRIs in addition to regular mammograms for several years, postponing surgery until after having children, she said.
“For a younger woman, while their life time risk is 50 to 87 percent, the chances of getting cancer in the next five years may be only 2 percent,” Bellcross said.
Removing both breasts before cancer is diagnosed can reduce the risk of breast cancer by as much as 97 percent but can’t completely prevent it, according to the American Cancer Society.
“Even a very careful surgeon will leave behind a small amount of breast tissue, which can go on to become cancerous,” Dr. Otis Brawley, chief medical officer for the American Cancer Society said in a statement.
Gay Lenner, a Cobb County mother of two with ovarian cancer, had genetic testing two years ago and learned she was BRCA1 positive. She’s had four surgeries related to her ovarian cancer and faces the choice of whether to have a preventive mastectomy as well.
“It’s a very personal decision,” she said. “I want to be proactive but my body needs a rest from surgeries and chemotherapy treatments.”
“I don’t want another cancer,” she said. “This would be one less thing to worry about.”
Melanie Zucker’s mother was diagnosed with breast cancer at 41 and died of ovarian cancer at 54. Then, a younger sister was diagnosed with breast cancer.
Zucker, of Sandy Springs, didn’t want to worry about the what-ifs of her own health.
Genetic testing done 13 years ago discovered the gene mutations.
Shortly after, she had a double mastectomy and also had her ovaries and fallopian tubes removed.
“I had a young family,” said the 50-year-old mother of two . “I really did it to be around for them…. If I sat around waiting, I would have regretted it because I could have done something. Yes, I may not have developed anything but the odds were against me.”
Zucker said she had to fight her insurance company over coverage, which it eventually provided. “It was new territory then,” Zucker said.
“I have never looked back,” she added.
