Cancer choices

Genetic testing predicts risks, changes treatment

Cyndi Pierre went through a genetic test that showed she was at a higher risk of developing breast cancer. And she made a radical treatment choice.
Cyndi Pierre went through a genetic test that showed she was at a higher risk of developing breast cancer. And she made a radical treatment choice.

October’s designation as National Breast Cancer Awareness Month has special meaning this year for Cyndi Pierre.

The 45-year-old Rogers woman had a double mastectomy last October after doctors found a small tumor in one of her breasts.

“If I had not done the test, my story would be a lot different,” she said.

The test she is referring to is a genetic test called BREVAGen that uses DNA analysis to better predict a person’s risk for breast cancer.

Genetic testing for breast cancer made headlines earlier this year when actress Angelina Jolie announced she had a preventive double mastectomy after tests showed she carried BRCA1 gene mutation.

BRCA1 and BRCA2 are human genes that produce tumor suppressor proteins that increase the risk of female breast and ovarian cancers, according to the National Cancer Institute.

About 12 percent of women will have breast cancer in their lives, but only 5 to 10 percent of breast cancer patients will have the BRCA1 or BRCA2 mutation. However, women with a BRCA mutation have a much higher chance of getting breast cancer: 55 to 65 percent rate for BRCA1 and 45 percent rate for BRCA2.

In fact, about 90 percent of breast cancers are considered sporadic, meaning the damage to the genes occurs by chance after a person is born and there is no risk of passing on the gene to a person’s children.

Pierre tested negative for the BRCA mutation, but her family history still had her worried. Her mother was diagnosed with breast cancer twice, at age 60 and age 72; her sister at age 40.

“It weighed heavy on my heart to do something more than a mammogram,” she said. “But insurance would not pay for it.”

That’s when her doctor told her about BREVAGen, a test designed to predict risk of sporadic breast cancers.

“The test showed I had a 33 percent higher risk of getting breast cancer,” Pierre said. “I was told it was not a matter of if I ever got cancer but how quickly we would find it.”

Her insurance agreed to pay for a three-dimensional MRI after she received the positive test results. Doctors found a small tumor that did not show up on her mammogram.

Because she fell into a high-risk category, Pierre opted for a double mastectomy.

“I did not want to worry for the rest of my life about getting breast cancer again,” she said.

Dr. Kevin Pope, a diagnostic radiologist at the Breast Center, said an increased number of women have opted for genetic testing over the past seven years. The Breast Center tests for BRCA mutations.

“The Angelina Jolie case opened up conversations,” he said.

Not everyone needs to consider genetic testing. Pope said the National Comprehensive Cancer Network’s breast cancer screening guidelines for BRCA first evaluate a patient’s family history and the age of cancer onset. Patients with two first-degree relatives, such as a sister or mother, are particularly at risk for having a mutation.

People with a male family member with breast cancer or people of Ashkenazi Jewish descent have a higher prevalence of BRCA mutations.

“Patients who have been diagnosed with breast cancer once have a lot higher chance of getting it again,” he said.

Sandy Prince, vice president of cancer prevention and education at Hope Cancer Resources, said genetic testing can be expensive and is not always covered by insurance.

Hope Cancer Resources received a $40,000 grant in April from the Ozark affiliate of Susan G. Komen for the Cure, with $29,640 designated to help pay for BRCA testing.

Lauren Marquette, director of mission services for the local Komen affiliate, said the grant only funds BRCA testing for women who have already been diagnosed with breast cancer.

Hope Cancer Resources helped 12women get BRCA testing at $2,900 each.

“Not only have we already exhausted the money, we have spent more than the grant covered,” Prince said.

A provision of the Affordable Care Act that goes into effect Jan. 1 calls for genetic counseling and BRCA testing for high-risk patients to be available as a preventive service without cost-sharing.

“Screening is really early detection. It gives us a better chance to save a patient,” Pope said.

Keisha Pittman, Northwest Arkansas American Cancer Society director, said genetic testing is just one piece of the breast cancer screening puzzle.

“All screening guidelines are important because they really give a woman her greatest opportunity to stay on top of her health care,” Pittman said.

She said more and more young women are being diagnosed with breast cancer because screening is helping catch cancer earlier.

Marquette said the average age a women is diagnosed with breast cancer is 61, but she expects that number to drop.

“I think more women are going to their doctors right after they see something different in their breasts,” she said. “Being more aware about your body is definitely key.”

AT A GLANCE Genetic Testing

The likelihood of a harmful mutation in BRCA1 or BRCA2 is increased with certain familial patterns of cancer. These patterns include: Multiple breast and/or ovarian cancers within a family (often diagnosed at an early age) Two or more primary cancers in a single family member (more than one breast cancer, or breast and ovarian cancer) Cases of male breast cancer People of Ashkenazi Jewish descent also have a higher prevalence of BRCA1 and BRCA2 mutations than people in the general population.

  • SOURCE: NATIONAL CANCER INSTITUTE

GO & DO Making Strides Against Breast Cancer

Who: American Cancer Society

When: 7 a.m. Saturday

Where: Northwest Arkansas Mall

Information: Kristin Silvestri at (479) 246-0002

Style, Pages 27 on 10/24/2013

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