Test can reveal a genetic predisposition to cancers Posted On: Monday, Nov. 3 2008 02:07 AM By Jan Jarvis
McClatchy Newspapers

SOUTHLAKE – Wanda Stutsman was 32 years old and seven months pregnant when she began her first round of chemotherapy.

Two months later – exhausted and bald from the chemo – she delivered a healthy son. But there was little time to dote on him; Stutsman had to move quickly to the next phase of her breast cancer treatment: six weeks of radiation therapy.

Although the radiation zapped her energy and the baby kept her up all night, Stutsman managed to get through her final treatment.

She went on with her life, getting annual mammograms to make sure the cancer had not returned. After a decade without a reoccurrence, she managed to push cancer to the back of her mind.

That is, until her cousin was diagnosed with ovarian cancer three years ago. Stutsman decided it was time to be tested for BRCA1 and BRCA2, mutated genes that are linked to breast and ovarian cancer.

"I found out I have BRCA1," she said. "I went 10 years as a survivor without ever knowing I was in this small group of women who have a high risk for breast cancer."

Only 5 to 10 percent of breast cancers are caused by these genetic changes. But those who have the mutation face a 36 to 85 percent chance of being diagnosed with breast cancer at some point, according to the National Cancer Institute.

Had it come when she had cancer, the discovery might have caused Stutsman to opt for more than a lumpectomy, chemotherapy and radiation.

But 10 years had passed, and she wasn't all that worried for herself. A new fear did keep her awake at night, however: Had she passed the mutation on to her two children?

It's an issue more women are wrestling with as the demand for genetic testing grows. Last year, about 100,000 tests for the breast cancer genes were performed in the United States, double the number from 2005, The Associated Press reported.

In the past, the cost of testing and a fear that insurance companies would discriminate against someone with the gene mutation kept many women from pursuing it, said Dr. Prasanthi Ganesa, an oncologist at the Center for Cancer and Blood Disorders in Fort Worth.

Then insurance companies started covering the test, which costs about $3,000. In 1996, the federal Health Insurance Portability and Accountability Act prohibited group insurance plans from using genetic information as a basis for denying coverage. In 2000, federal regulations were expanded to protect the privacy of medical records.

These changes, combined with dramatic improvements in reconstructive surgery and a heightened awareness of the breast cancer genes, have contributed to the increase in testing.

This year, actress Christina Applegate made headlines when she had a double mastectomy a few months after being diagnosed with breast cancer and learning she carried the BRCA gene mutation.

Stutsman said she might have undergone a double mastectomy had she known she was BRCA1-positive at the time of her cancer diagnosis.

After the positive test, she had to rethink her strategy. She decided against surgery to remove her healthy breasts, but this summer she had her ovaries removed.

In addition to having an increased risk of breast cancer, women with the BRCA1 mutation also have a 20 to 40 percent chance of getting ovarian cancer, Ganesa said. BRCA2 carries an even higher risk of ovarian cancer.

The Susan G. Komen foundation recommends that breast self-exams begin by age 20.

It is extremely rare for girls younger than 18 to get the disease. The risk by age 20 is 1 in 1,985, according to the American Cancer Society.