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Most women with faulty gene opt for double mastectomy, area doctor says

CHARLESTON, W.Va. -- Most women who discover they have a gene mutation that dramatically increases their chances of breast cancer choose to have both their breasts removed, a Charleston surgeon said this weekend.

"If you know that you have that high of a chance [of breast cancer] and you have a child and husband and another 70 years to go, you want to be around," said Dr. Roberto Kusminsky, chairman of the Department of Surgery at the Charleston Division of West Virginia University.

However, cases of hereditary cancer, the kind that is passed down from a parent to a child, are rare, Kusminsky said.

Actress Angelina Jolie recently made headlines after undergoing a double mastectomy. She carries a faulty form of the BRCA1 gene, she wrote in a New York Times op-ed. Doctors said her risk of breast cancer was 87 percent and her risk of ovarian cancer was 50 percent, she wrote.

Jolie's mother died of breast cancer.

"When you talk about hereditary breast cancer, the one that you get from your family," Kusminsky said, "you're talking about a very small percent of the cancer."

About 8 percent to 10 percent of breast cancer cases are passed down genetically, he said.

The BRCA1 and the BRCA2 genes are normal ones that everyone has, Kusminsky said. The problem comes about when those normal genes are mutated.

Doctors might recommend that a woman be tested for the gene mutation if other women in her family had breast cancer diagnoses at young ages, he said.

"That's a bell ringing in your brain that says there's a familial hereditary component," Kusminsky said.

The tests for the genetic mutation cost about $4,000 and are performed only by one company, Myriad Genetics. Myriad Genetics has a patent on the BRCA1 and BRCA2 genes, although a case is pending before the U.S. Supreme Court to determine if Myriad can legally patent naturally occurring human genes.

Breast cancer is the most common form of cancer in women, according to the Centers for Disease Control and Prevention. One woman in 8 will get breast cancer in her lifetime, but the prevalence of the disease is different at different ages, Kusminsky said. A woman's chances of getting the disease increases with age. The average age of a breast cancer patient in the United States is 61, he said.

Doctors can test for mutations in the BRCA1 and BRCA2 genes, but there could be cancer-causing genes, as well. Those genes just haven't been discovered yet, Kusminsky said.

"You only test for these genes that we know of today," he said, "but there are genes that can increase the risk for that patient to develop cancer that we don't know about but we will in the years to come."

Most health insurance plans will pay part of the cost for genetic testing and mastectomy, Kusminsky said. By law, health insurance companies cannot discriminate against customers based on genetic testing, but life insurance companies are not bound by the same law.

He tells patients, "If you are planning to get life insurance, get it now or you will be compromised because of the results of this test."

Hereditary cancers are rare, but the chances of getting breast cancer can increase dramatically for someone with the faulty gene. A patient with the gene mutation has a chance of breast cancer that's as high as 87 percent, he said.

Medication can cut a patient's chances of cancer by up to 50 percent, he said, while a double mastectomy can cut those chances by 90 percent.

For the women who opt to have a preventative mastectomy, breast-reconstruction surgery has come a long way in the past few decades, said Dr. Abdalla Bandak, a Charleston plastic surgeon. Reconstruction can be done at the same time the patient has the mastectomy.

In the 1970s, when surgeons did mastectomies, they would not immediately do the reconstructions, Bandak said. The thinking was that women wouldn't be pleased with the results of reconstruction and that if they saw themselves after their mastectomies, but before reconstruction, they would be more satisfied with the reconstruction, he said.

Today, surgeons performing mastectomies can save the skin, Bandak said. Women can opt to get implants or use tissue from cadavers or from elsewhere on their bodies to fill in the breasts.

Bandak said he has practiced plastic surgery for 18 years. In his roughly seven years in West Virginia, he's probably done reconstructions for preventative double mastectomy twice in patients that didn't have cancer. He said he also performed the surgery twice in Virginia, when he practiced there.

The procedures women choose to have can determine what their bodies look like after surgery, he said. Most women look better if they keep their own skin and if they use their own tissue, rather than implants, he said.

"It seems to be that women are getting more educated, they have more access to the Internet," Bandak said. "They see what's available and ask their surgeons for that procedure."

Reach Lori Kersey at lori.kersey@wvgazette.com or 304-348-1240.


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