Opting for prevention rather than a cure

From left, Amanda McRee and Greta Austin, mother and daughter, respectively, both opted to undego double mastectomies after learning they had a BRCA gene mutation that put them at increased risk of developing breast cancer.

From left, Amanda McRee and Greta Austin, mother and daughter, respectively, both opted to undego double mastectomies after learning they had a BRCA gene mutation that put them at increased risk of developing breast cancer.

ALBANY, Ga. -- Greta Austin is known, at least to those close to her, as the Angelina Jolie of Albany.

She and her mother, Amanda McRee, tested positive several months ago for a BRCA gene mutation -- indicating they had an increased risk of developing breast cancer. Since then, they have both undergone double mastectomies.

The discovery that the mutation ran in their family took place when McRee switched doctors.

"My new gynecologist, when he saw my family history, really wanted me to get tested," she said.

By that time, McRee had already seen her mother suffer from ovarian cancer, her father develop prostate cancer as well as have incidences of melanoma and liver cancer in her bloodline.

Sure enough, she tested positive -- which prompted others in her family to get checked as well, including her three children.

"When I tested positive, they said that my children really needed to get tested," McRee said. "My son tested positive. He has twin daughters, and they will probably need to get tested."

BRCA 1 and BRCA 2 are human genes that belong to a class of genes known as tumor suppressors, and mutations of these genes have been linked to hereditary breast and ovarian cancer. Information available from the National Cancer Institute website states that harmful BRCA 1 mutations may also increase a woman's risk of developing cervical, uterine, pancreatic and colon cancer while harmful BRCA 2 mutations may additionally increase the risk of pancreatic, stomach, gallbladder and bile duct cancer as well as melanoma.

Men with harmful BRCA 1 mutations also have an increased risk of breast cancer, and possibly pancreatic, testicular and early-onset prostate cancer -- while male breast, pancreatic and prostate cancer seem to be more strongly associated with BRCA 2 gene mutations, the National Cancer Institute says.

In the case of McRee's son, it will likely mean an increased risk of prostate cancer, she said. Her younger daughter tested negative, but since the mutations have been known to skip a generation, her children will still likely need to be tested.

When it came time to discuss options, Dr. Chirag Jani, an oncologist with the Phoebe Cancer Center, essentially gave McRee the choice between close monitoring or surgery.

Jani was convinced that surgery was the way to go in her case.

"I thought a mastectomy was too radical, but Dr. Jani was insistent," she recalled. "I suggested maybe getting a mammogram every three months, but he said that would just mean we would find it after I have it.

"My children were insistent also."

As it turns out, McRee did end up developing breast cancer.

"I (later) had a mammogram and a colonoscopy and an MRI, and it was discovered that I did have breast cancer," she said. "Fortunately, it was very tiny and very early. The surgery had already been set up, so I went ahead with it."

She had the mastectomy and then underwent reconstruction in March, which followed by a hysterectomy last month. By then, McRee was glad to have it over with.

After that, it was her daughter's turn.

From a financial standpoint, it ended being at least slightly easier on Austin since she did not have to undergo the full panel of testing that her mother did.

"They already knew the exact mutation mama had, so my test was a tenth of the price," she said.

The cost for the blood test came out to be $3,000-$4,000 for the mother, and $300-$400 for her daughter. While coverage of the test depends on the individual's health insurance policy, from McRee and Austin's experience, it is often covered in cases in which the family history indicating that the test is necessary exists -- and since it is not often done for those at average risk, people with the family history are typically the ones getting the tests anyway.

On average, one in eight women will develop breast cancer in their lifetime. Of those, 10 percent will test positive for the gene mutation, Jani said. There certain things from a woman's family history the oncologist said he generally looks for when determining whether the potential for cancer is hereditary. Usually, the risk factors will include a first-degree relative -- a mother, daughter or sister -- who developed breast or ovarian cancer at a younger age, as well as several second-degree relatives with a history of cancer.

"These are warning signs that it could be hereditary," he said. "If it is hereditary, the chances of developing breast cancer are an excess of 80 percent, and 60-70 percent for ovarian cancer."

Austin's test did turn out to positive. While she wasn't thrilled about having to undergo surgery, she felt it was something she needed to do.

"I already knew what mama had been through, and Dr. Jani said I had an 85 to 90 percent chance of getting (breast cancer); he was insistent ... and since I had kicked and screamed for mama to do it..."

Austin's mastectomy was on March 8. She has two more reconstructive procedures to go through, the first of which will be on July 8 -- with her hysterectomy to follow.

Considering her family history, and the fact she had been healthy prior to her breast cancer diagnosis, McRee said she did not see her testing positive for the mutation as a big deal.

"With me, I was the same way," Austin said. "I would say I was disappointed, (but I wanted to) get it (the surgery) set up and do it."

This is not to suggest that the events afterward did not take an emotional toll, but in the end, it was a comfort knowing that the surgery had been done.

"For a few weeks, I was not sure I would make it," Austin said. "I had an 18-month-old at home. It's a personal thing.

"I want to be alive, so I guess I'd do it again."

Even with both breasts removed, there may still be a chance of developing cancer later on since there is some tissue that cannot be removed.

"I've told several people that just because you have a mastectomy...that only reduces breast cancer risk by 80 percent because there is also breast tissue in the neck and back," Austin said.

Based on their experience, both Austin and McRee can testify to the significance of patients taking charge of their own treatments.

"You have to be an advocate, because not every doctor will be as up to your history as you are," Austin said.

Jani said that a positive test will generally be followed by surgery, especially in cases that involve middle-aged to older women who already have families. If a patient is younger and wants to wait, there are drugs that can be given which would buy them three to five years, he said.

"The ideal (treatment) is the removal of the breast," he said.

The blood test carries no risk, so for as difficult as the surgery process may be, the benefits of someone knowing they have the gene mutation outweigh the negatives -- for the patient as well as the family members who may also need to be tested.

As at least one oncologist would say, prevention is better than a cure.

"The outcomes are very good. It (the surgery) prevents breast cancer by 80-90 percent, and ovarian cancer by 60-80 percent," Jani said. "... These are very hard decisions. There is an emotional and psychosocial piece, but on the other side, it is important to be around.

"Knowledge is power. Unless you have the knowledge, it is difficult to make decisions."