Jeanette Kowal was in her mid-30s when she learned she had a genetic mutation that put her at serious risk for breast and ovarian cancer.
The Wyandotte resident, 44, wasn’t surprised by the news. Her mother had died in 2005, at age 54, from ovarian cancer; Kowal’s grandmother had died of the same illness at age 41, leaving behind nine children. Her great-grandmother had died from cancer, too.
“It was just heart-wrenching,” Kowal says. “My mom thought it couldn’t be coincidental that she was the third generation. She did some research and went in for genetic counseling … to set a benchmark, kind of as a legacy.”
Kowal’s mother tested positive for a BRCA1 mutation. That is the same mutation carried by actress Angelina Jolie, who spoke out publicly in 2013 about her decision to have a preventive double mastectomy and, this year, surgery to remove her ovaries and fallopian tubes.
After her mother’s death, Kowal’s father urged her and her sister to get tested for the mutation. Kowal’s sister was tested first, and learned she, too, had a BRCA1 mutation. Not long after, at age 31, she found a lump in her breast, and chose to have a double mastectomy. Kowal’s own positive test prompted her to decide to have an oophorectomy; two years later, she had a preventive double mastectomy.
That reflects trends that Nancie Petrucelli, senior genetic counselor at Karmanos Cancer Institute, is seeing. In the past, genetic testing was often an afterthought for a woman already diagnosed with breast or ovarian cancer. Now, partially spurred by Jolie’s public-awareness efforts, testing is happening sooner.
“A woman might have opted for testing after getting through treatment, in order to learn the risk for other family members or her risk for other cancers,” Petrucelli says. “Now, a woman is diagnosed, and she’s referred to genetic testing because her results are going to directly influence her decision-making regarding surgery and management.
“So there’s been a shift in that regard, which I think is really important,” she adds. “Women have this information as they’re making their treatment decisions.”
For Kowal, the mother of two boys, having her ovaries removed meant forgoing a desired third child. And having the oophorectomy was, in some ways, an easier call than the double mastectomy, she says.
“Maybe a little vanity comes in here, but (removing the ovaries) isn’t aesthetic,” she says. “But I just had to go forward. … I do believe that this was my mother’s legacy. She left us with the gift of knowledge, and knowledge is power.”
BRCA1 and BRCA2 were discovered in the mid-1990s. Sarah Hawley, professor at the University of Michigan Department of Internal Medicine and Comprehensive Cancer Center, says, citing data from the National Cancer Institute: Women with a BRCA1 mutation have a 55-65 percent chance to develop breast cancer by age 70, and a 45 percent change of developing ovarian cancer by age 70. Those with a BRCA2 mutation have a 40 percent chance of developing breast cancer and a 17 percent chance of developing ovarian cancer by age 70. For women who test positive for either mutation, the recommendation is to have preventive surgery.
Though testing has become more widespread, Petrucelli notes that only about 5-10 percent of cancers are due to heritable genetic mutations. Testing is typically still reserved for those with markers for hereditary cancer, including cancer diagnosed before age 50; two separate cancers in the same person; male breast cancer in the family; and multiple people in the family diagnosed with the same type of cancer.
Mutations in the genes BRCA1 and BRCA2 aren’t the only ones that cause breast cancer. Advances in gene sequencing mean multiple genes can now be processed quickly, cost-effectively, and simultaneously. At Karmanos, one test checks 17 genes for mutations, all linked to breast cancer; some are linked to other cancers, too. BRCA mutations, for example, are also linked to an increased risk of prostate and breast cancers in men and in melanoma and pancreatic cancer for both men and women.
Some of the mutations now tested for are not well researched, making it challenging for patients to assess how to respond.
“Some of the genes are really well known and have clear cancer risks … and therefore clear management recommendations,” she says. “But there are some genes on the panel that are associated with breast cancer, but we don’t know the exact risk and there no published management guidelines. Some patients have more than one mutation, including in these rare genes. It’s important to have a genetics professional involved in the testing process to help patients navigate through this test panel, because we’re somewhat in unchartered territory.”
For Kowal, taking a proactive approach allowed her to feel like she’d taken control of a terrifying situation. “Emotionally, the process can be overwhelming,” she says. “I’m pretty analytical, so I go back to the statistics. I’ve reduced my risk, and that brings me calm.
“This doesn’t define you,” she says of having the mutation. “It’s part of you, but it’s not who I am or what I’m capable of. In my first session [after getting tested], when I was an emotional mess, the doctor just said, ‘Your mother’s fate is not your own.’ ”
BRCA affects men, too
BRCA mutations affect both men and women. Men can develop breast cancer, and they can transmit the gene mutation to their offspring.
Since the mutation can be passed down from the father’s side, when assessing family history it’s important to take a close look at the father’s side of the family, including paternal grandmother, siblings, and cousins.
Healthy or Harmful?
Non-invasive, complementary therapies are generally OK. It’s the alternative remedies — anything that goes into the body — patients need to be cautious about.
Six years ago, Mary Jo Grand was diagnosed with Stage 4 lung cancer (non-small cell adenocarcinoma). Based on statistics, doctors said she had six months to a year to live. She started chemo immediately, the day after she turned 48.
Grand and her husband, Tom, then got to work. They researched diets, and she completely cut out sugar, carbohydrates, and processed foods from her diet. She added more leafy green vegetables, like kale and spinach. She drank only water and green teas. In addition to eating a generally healthy diet, she juiced three to five times a day. It kept her healthy the first four years.
Then, two years ago, Grand went for a routine scan; it revealed her cancer had returned but hadn’t spread. In April 2013, Grand had six lymph nodes and three-quarters of her left lung successfully removed. Today, she says her breathing won’t ever be at 100 percent, but she’s feeling well enough and the routine aches and pains beat the alternative.
Now a month from 54, Grand, of Garden City, credits the chemo treatments, a clinical trial with a new combination of drugs, her diet, and the excellent care at the University of Michigan, with keeping her alive.
Grand’s physician, Dr. Greg Kalemkerian, says 47 people across the country were on the same clinical chemo trial as her. Only she survived.
“I really believe my diet is why I’m still here,” Grand says. “The juicing kept my immune system strong enough to fight.”
Kalemkerian, who works in oncology/hematology, has treated cancer patients for 25 years, more than 16 at the U-M. He says it’s important to understand the difference between complementary and alternative cancer treatments.
Complementary treatments like guided imagery, acupuncture, and relaxation are considered non-invasive techniques. It’s the alternative treatments patients need to be wary of, he says.
“Even though you think taking a pill or drinking tea is not invasive, it is, because it goes into your body,” Kalemkerian says.
Doctors have no way of knowing how certain treatments mix with standard anticancer treatment if they haven’t been regulated or tested in the field, Kalemkerian says. Dangerous, even deadly interactions can happen. Even juicing should be done carefully, and only with a well-balanced diet, Kalemkerian adds.
Karen Armstrong, a manager of clinical massage at Beaumont Health, says oncology massage is considered complementary therapy to use along with traditional treatments. Armstrong says massage therapy can help reduce anxiety, stress, and pain. It can help improve sleep and range of motion.
Armstrong echoed Kalemerkian’s thoughts on the importance of being knowledgeable about choosing treatments. She says a massage therapist not trained in oncology could harm a patient. Ultimately, the therapy helps make patients comfortable and treats the side effects of the medical treatments. No matter what, she says, it should never hurt.
“Tenderness is OK,” Armstrong says. “But pain is not.” —Julie Walker