Destiny? Fate? When you have the breast cancer gene

“Blue Velvet” sculpture by Minnesota artist Melody Villars. See more of her work at Photo by David Bowman.

“Blue Velvet” sculpture by Minnesota artist Melody Villars. See more of her work at Photo by David Bowman.

Korie’s choice

Korie Morgan wanted to know. Actually, she already had her future pegged: She would get breast cancer. It was her destiny.

This wasn’t an irrational fear. When Morgan was 15, she lost her 42-year-old mother to breast cancer. Two years later, her mother’s oldest sister died from breast cancer at the age of 52. A family history of breast cancer is a risk factor for developing the disease. Having a mother with breast cancer nearly doubles a woman’s risk.

Knowing these risk factors, Morgan was 25 years old when she hatched a plan: She would get a prophylactic bilateral mastectomy, (removal of her breasts, nipples and aureolas). This drastic step made perfect sense to her. “I never talked about if I get breast cancer,” Morgan explained. “I talked about when I get it. A mastectomy seemed like an easy decision. I’d have control over the cancer instead of wondering when it was going to happen. I was set on it. I was being proactive. I was cutting it off at the pass.”

Morgan was convinced of her decision; her mother’s sole surviving sister, who had herself had the preventive mastectomy, thought Morgan was jumping the gun. She urged her niece to be more cautious, and suggested genetic testing.

Choosing genetic testing

Scientists have identified two hereditary gene mutations-BRCA1 and BRCA2-that point to an elevated risk of breast cancer. Carriers of these genes have up to an 85 percent chance of developing breast cancer in their lifetimes. Positive identification of the genes usually points to a higher risk of ovarian cancer as well. Carriers normally have one gene or the other, rarely both. A third gene mutation, CHEK-2, has also been linked to breast cancer. However, the first two continue to be better indicators, and are the ones for which doctors test.

Cancer researchers point out that only 5 to 10 percent of women diagnosed with breast cancer carry the breast cancer gene. In other words, testing negative for the genes doesn’t guarantee that a woman will not develop breast cancer. Too many other factors, which scientists readily admit they are trying to nail down, are still at play.

However, since Morgan’s family tree sported recurring cases of the disease, chances were high she carried one of the two mutated breast cancer genes. Morgan followed her aunt’s advice, and had the blood test to learn whether she carried either of the genes. Morgan met with Mary Ahrens, a certified genetic counselor and the program manager of genetic counseling at the University of Minnesota Medical Center at Fairview. “Once you have the results … everything changes.” Ahrens said. “Some patients deal with parental guilt, thinking they passed this on to their kids, that it’s all their fault. Sometimes it causes damage between siblings, if one got the gene and the other didn’t.”

Ahrens also discusses time, cost and insurance considerations with patients before a test. “It is expensive, about $4,000 for the blood test,” she said. “Not every insurance plan will cover it. It takes about three to four weeks to get the results.” Patients must meet with Ahrens or another counselor to receive their results.

Some patients worry about future health coverage if genetic tests are positive for various diseases. Ahrens calms those fears. “We do have state legislation against that,” she said. “There is a law that says if you have a genetic test, you can’t be discriminated against. If anyone ever had a problem, I’d tell them to look towards the Americans With Disabilities Act.”

Options for women with the mutated gene

“You don’t have any control over cancer, but if you know you have the mutation, that gives you some control,” Ahrens explained. Patients who test positive for the breast cancer gene can choose between several medical routes. While a prophylactic mastectomy is one of those paths, it is not the only one.

“We do know that a prophylactic mastectomy can dramatically decrease the chance of developing breast cancer,” Ahrens said. “Some women would never even think about it, and some women would do it then and there. It really depends on the individual.” For many women, Ahrens continued, ” … the surgery isn’t right, so we talk about early detection and proper screening.”

Women with a family history of the disease or who test positive for one of the breast cancer genes, often consider taking tamoxifen. According to a study funded by the National Cancer Institute, among women taking tamoxifen for preventive purposes, there was a 49 percent reduction in diagnosis of invasive breast cancers and a 50 percent reduction in the diagnosis of noninvasive breast tumors.
Tamoxifen is taken daily for a five-year period.

Korie’s results are in

After getting her test results, Korie Morgan learned she did not carry either of the breast cancer genes. “I really thought I had the genes,” Morgan said. “For me, doing the test was going to be one more reason why I should get the mastectomy, but when I clearly didn’t have either, I thought, ‘Shoot! This doesn’t help me make a decision.'”

Because of her family background, Morgan is still considered high risk for developing breast cancer, yet for her, tamoxifen wasn’t ideal. The drug is not approved for preventive treatment in women under 35 and the drug can cause serious harm to a developing fetus. Morgan is not yet 30 and would like to have a family.

“Do the results give me peace of mind?” Morgan asked. “No. I’d still consider doing the mastectomy for preventative reasons. I guess this buys me time. I can wait until I have kids before I do it, or maybe in five years they will have identified more genes and I can do the test again.”

“One of the reasons I wanted to do the test was for my sister, who’s three years younger than me,” Morgan said. “There’s still a 50-50 chance my mom could have given the genes to her,” said Morgan, noting that her sister has not been tested. “It is nice to know, though,” she added, “that I can’t pass the genes on to my kids.”

Korie faces more uncertainty

“I hate to say it, but the results still make me feel like I’m in a waiting period,” she admitted. “I started mammograms and MRIs. They do MRIs now on younger women with denser breasts. I rotate and get one or the other every six months because I’m considered high risk. If you’re high risk you should start mammograms 10 years before your closest relation got breast cancer. My mom got it at 38, so for me, starting mammograms at 27 was just a little early.”

“I do self exams. I stay on top of current research,” she added. “I eat healthy and exercise and do all the regular things you should do to be a healthy human being.”

“Honestly,” she said, “now that it’s all done, I don’t know what it answers.”

Mary’s choice

It was the year 2000, and Mary Graunke was 36 years old. Like Korie Morgan, she had a family history of breast cancer-two of Graunke’s sisters had the disease. And like Morgan, Graunke was obsessed with the fear she would develop breast cancer.

Because Graunke and her husband were happy with their planned family of one child, she elected to have a tubal ligation (to ensure she wouldn’t become pregnant) and to take tamoxifen. “I needed to feel like I was doing something proactive,” she explained. “It’s supposed to reduce your chances of not getting breast cancer.”

Just three months after her tubal ligation, however, Graunke learned that two of her sisters tested positive as carriers of the breast cancer gene. Worried, Graunke scheduled her yearly mammogram. When the results were unusual, she was called back for a second run.

“I psyched myself out,” Graunke admitted. After the second mammogram, she started daily self-exams and soon started experiencing breast pain and nipple discharge. She and her doctor agreed she may have brought on the pain and discharge through her constant self-exams, but since the discharge was unusual and her risk factors were high, Graunke underwent a painful ductography, which involves using a needle inserted in the nipple to inject dye for an MRI, and a breast biopsy. Because the biopsy was performed at the end of the week, Graunke had to wait over the weekend before learning the results. “All of this, the mammograms, the self-exams, the ductography, the biopsy, happened in two months’ time,” Graunke said. “I was a wreck. I was constantly worried and I just thought, ‘I can’t live my life like this.'”

Like Morgan, Graunke considered a prophylactic bilateral mastectomy. After discussing the procedure with her gynecologist and a breast surgeon, she met with a plastic surgeon about reconstruction options. Because her extended family had been traumatized by her sisters’ battles with breast cancer, Graunke did not discuss the procedure with her siblings. Instead, she discussed the option with her close friends, her husband and her son. She also spent hours online, scouring the Internet for research on the surgery.

It didn’t take Graunke long to decide. In July 2001, she had a double mastectomy to reduce her chance of developing breast cancer. It wasn’t until December 2001 that Graunke’s implants were in place and her final stitches were taken out. Her reconstruction, however, still wasn’t complete. In January 2002, she had nipple reconstruction. “The doctors knot up some of your tissue to form a nipple,” she said. “I had it performed in the morning, and the next day I was back at work. Then, in March, I had tattooing done so that the knot would look like a nipple.”

“My insurance paid for everything,” Graunke said. “The whole procedure, the surgery and all the reconstruction, cost well over $50,000. It was covered due to my family history and plus, I got doctors to sign off on everything.”

“I never did the genetic test,” Graunke said. “But I do feel safer now. The procedure doesn’t guarantee that I won’t get breast cancer, but it does reduce my chances up to 94 percent. Plus, if something were to develop, I’d feel it now. I still go in once a year to my doctor. My OB does a checkup. I’m not obsessed with it anymore.”

To learn more about breast cancer resources click here.