BIG DECISION: Preventive surgeries increase with fear of breast cancer

Breast cancer hangs from Lora Schmidt's family tree like a poisonous fruit awaiting its next victim.

The disease killed both her grandmothers at young ages, and then her mother at age 45.

Schmidt's sister, Mary, also has been battling the disease, and another sister, Judy, died of brain cancer in 2013.

So while seeing an endocrinologist in 2011 for hormone replacement therapy, Schmidt did genetic testing and discovered she had the BRCA2 gene mutation, which puts her at high risk for breast cancer. That led to having her ovaries and both breasts removed -- the latter surgery in March of this year.

"I thought, 'I'm a healthy woman going into surgery. It's crazy,'" said the 54-year-old Columbus resident. "But my sister, Mary, said, 'Lora, you don't want to go through what I went through. At least it's not chemo.' So I count my blessings."

Schmidt's decision to have both breasts removed to stave off breast cancer represents a growing trend among women who test positive for mutation in the BRCA1 and BRCA2 genes and/or have a family history with the disease.

Actress Angelina Jolie Pitt made headlines in May 2013 when she announced that she had undergone a preventive double mastectomy after testing positive for the BRCA1 gene mutation. Her genetic background gave her an 87 percent risk of breast cancer and a 50 percent risk of ovarian cancer. The actress had already lost her mother, grandmother and an aunt to the cancer. She recently disclosed that she also has had her ovaries and fallopian tubes removed.

Dr. Kenneth Smith is a breast surgical oncologist and medical director of breast surgery services at the John B. Amos Cancer Center. He said high-profile cases like Pitts' have caused more women to investigate their own genetic heritage. But there are also scientific developments fueling the trend.

"As we become more aware of the risk factors that predict the potential for mutation, I think from that standpoint we're seeing increasing numbers of women coming in asking to be tested," he said. "We usually run a little computer module that spits out their estimated risk and if their risk is above about 7 to 10 percent, then we usually recommend testing."

That, he said, also has contributed to more mastectomies.

"We do see increasing numbers of women that -- not only with a genetic mutation -- want a mastectomy," he said. "When they get into their late 40s or early 50s, depending on their family history, their risk will go up significantly. So at that point they tend to take a more aggressive approach as far as doing prophylactic mastectomy."

But not every mastectomy may be warranted, he said. "Unfortunately, we've also seen an increasing number of women who don't have a genetic mutation that want to have a prophylactic mastectomy, and the question of whether they benefit significantly is a challenge."

Weighing the risks

Cindy Snyder is a nurse practitioner and advanced practice nurse in genetics for the cancer genetics and risk assessment program at Gwinnett Medical Center in Lawrenceville, Ga. She comes to Columbus every Wednesday to do genetic testing at St. Francis Hospital.

"I have patients scheduled through November, so I think the awareness has definitely increased in terms of at least having an assessment to determine whether or not it's indicated," Snyder said of mutation in the BRCA1 and BRAC2 genes.

She said the women who come to her are referred by their physicians because of a significant family history that might indicate a cancer risk. Women can also schedule an appointment without a doctor's referral, she said, but it's important to have a physician following them for ongoing care and management.

Snyder said the genetic results could be confusing and it's important for women to understand what they actually mean.

"At this point and time, the statistic is that about 5 to 10 percent of all cancer is because of a hereditary problem," she said. "More often it's not, but it's important to understand that somebody may not carry a hereditary cancer mutation but they still may be considered high risk for cancer based on their family history."

Then there are women who may think they're at risk for breast cancer without any real evidence.

"They come in thinking that because their mother had breast cancer they just want to have their breasts removed," she said.

Sometimes, Snyder said those conversations go like this:

"OK, your mother had breast cancer at what age?"

"80."

"Is there any other history?"

"No."

Snyder said in such a scenario she might respond this way: "This is most likely a sporadic case of breast cancer and it doesn't necessarily increase your risk to the level that a hereditary mutation does.

"So my job is to help them understand their risks," she said.

When counseling patients, Snyder said she uses guidelines developed by the National Cancer Comprehensive Network, which provides a wide range of options depending on the circumstances.

"Other options a person might consider is increased surveillance," she said. "So it's kind of dependent on the women and how they feel about things. Some women may not feel so comfortable with automatically going and having their breasts removed. They might feel better about increased surveillance until they get to the time where maybe they aren't comfortable with that anymore."

Facing the challenge

Some women discover they have a mutation after they've gotten breast cancer. One such person is Miranda Vaughn, 47, who was diagnosed with the disease in 2008 after a routine mammogram.

She had a lumpectomy and then asked for a BRCA test. But a genetic counselor told her she didn't qualify for the testing because she was only 40 and had no family history of breast cancer, she said.

Then in the spring of this year, after being cancer-free for seven years, someone from the same medical center contacted Vaughn and said the standards had changed and there was now a red flag associated with her name because of age and family history.

She went to the center for the genetic testing and discovered that she had the BRCA1 gene mutation. "When they told me, it was just a feeling of relief because at least I know why I got it instead of thinking, 'Why did I get breast cancer and nobody else in my family has it?'" said Vaughn, a registered nurse at St. Francis Hospital. "So therefore I know it's somewhere down the line. I just don't know where."

She said her mother and brother are getting tested to see what side of the family passed it on.

"At first (the health care professionals) were telling me, there are several reasons you get breast cancer. No. 1, obesity, and I was overweight," she said. "I've lost 50 pounds, and in the process of losing weight, I get this test back that says, 'No, it's not your weight. It is in your genes.' That was good to know, even though I was losing weight for my health anyway."

Vaughn said her oncologist, Dr. Andrew Pippas at the Amos Cancer Center, told her she could have a double mastectomy to prevent cancer from recurring or she could just have a mammogram every six months to watch for cancer development.

"I said, 'No, I don't want to do that,'" she recalled. "So, they went ahead with the (double) mastectomy on July 15."

From there, she went to Dr. Vincent Naman for reconstructive surgery. He did a latissimus flap using her back muscles to recreate her two breasts.

"It actually was not bad," she said. "Most people use the stomach muscles, and they can barely stand up. I had no problems."

Vaughn said she is divorced with a 19-year-old son who just joined the Air Force, and that parting with her breast wasn't as traumatic as it might be for some women. She met one woman in her 60s who couldn't bring herself to do it and opted for mammograms instead.

"Well, mine have served a purpose. I'm ready to move on with my life and I don't need them,'" she told the woman. "I don't want to wake up everyday wondering if the cancer is going to come back."

Reducing the threat

Schmidt, a bereavement counselor at Columbus Hospice, is married with no children. She discovered she had the gene mutation in 2011, but she didn't want a double mastectomy.

"At first my thought was, 'I don't want to remove healthy breast tissue, but I will keep an eye out for it. And if they ever find cancer in either breast I would go ahead and have a double mastectomy," she said.

She said her sister, Mary, had been diagnosed with breast cancer in 2007 and found out then that she had the BRCA2 gene mutation. Mary had a double mastectomy and hysterectomy, and remained cancer-free until 2013 when doctors found cancer in her lymph nodes.

That's when Schmidt began thinking seriously about preventive surgery. She figured her chances for breast cancer would decrease if she could prevent getting the disease in the first place. She became even more concerned when her mother's sister, Betty, was diagnosed with breast cancer at 80 years old.

So in March 2015, Schmidt went to Dr. Smith and had a double prophylactic mastectomy. From there, she went to Dr. Naman for reconstructive surgery. She said he did a great job, but it still takes getting used to.

"The thing that was hardest was to know that there would be no sensation in my breasts," she said. "You've had these breasts a long time and you want to be able to feel them. They look good, but it feels like a prosthesis there. I have scars, but the scars are minimizing."

She said both the double mastectomy and reconstruction were covered by her health insurance.

Schmidt said she still has five living siblings. Her sister, Amy, has tested negative for the gene and was the one who encouraged her to get tested.

One of her three brothers was recently tested and is still waiting for the results. Two of her Aunt Betty's children -- one a male and one a female -- also tested positive for gene mutation. The man has had colon cancer, and the woman recently had her ovaries removed as a preventive measure.

Schmidt said doctors have told her that her risk for breast cancer is now 3 to 5 percent, compared to 86 percent before the surgery. She thinks she made the right decision, but realizes there are no guarantees.

"I can get any type of cancer that's not related to this BRCA2 gene," she said. "I just have to remember that. But I have taken this one risk to near about minimal."

GENETIC TESTING

What does it involve?

After outlining family pedigree, a blood test will be performed to determine if a breast cancer gene mutation is present. Gene mutations can also be detected through saliva.

Who should be tested?

Women with a 7 to 10 percent risk for breast cancer based on a computer module used by health care providers. Also, those who might be at higher risk because of family history, especially women who have had one or two first-degree relatives who have had pre-menopausal breast or ovarian cancer. First-degree relatives include mothers, sisters, grandmothers and aunts. The cancer history of male relatives should also be considered.

How often should a person be tested?

If you test normal for BRCA 1 and BRCA 2 mutation then you will be normal for the rest of your life. There are some mutations that occur as you age, but most current tests aren’t able to pinpoint which genes seems to trigger cancer changes in situations that are not inherited.

How much does genetic testing cost?

If you do a full-gene sequence, it can cost anywhere between about $3,000 and $4,000. If you have a known mutation in your family, and you’re only testing for that one abnormal part, it can cost about $300.

Do insurance companies cover it?

Most insurers will cover testing if the patient meets certain criteria such as family history. In Georgia, Medicaid has started covering genetic testing for women who can’t afford it.

Sources: Dr. Kenneth Smith and WebMD.com

Alva James-Johnson, 706-571-8521. Reach her on Facebook at AlvaJamesJohnsonLedger.

This story was originally published October 3, 2015 at 11:11 PM with the headline "BIG DECISION: Preventive surgeries increase with fear of breast cancer ."