Sister on mission to prevent cancers

In the new lingo of cancer, Cynthia Kimball Humphreys is hoping to reach the "previvors" — women who test positive for a gene mutation that will likely lead to breast and ovarian cancer if they don't take precautions.

Humphreys is a member of what Salt Lake-based Myriad Genetics calls the "BRAC Pack," a group of women who share the BRCA1 or BRCA2 genetic mutations and want to educate other women who may also have the alterations.

Last week she was on the East Coast, speaking at the Kingsbrook Jewish Medical Center's Genetics Symposium in Brooklyn. The day before her trip, her youngest sister underwent a prophylactic double mastectomy in Boston, a fact that Humphreys mentioned matter-of-factly as she described her family's 15-year journey through cancer treatment and prevention.

All five Kimball sisters have tested positive for BRCA1, which gives each of them an 85 percent chance of developing breast cancer and a 50 percent chance of ovarian cancer. The three oldest sisters have actually had cancer and undergone chemotherapy, radiation, double mastectomies, oophorectomies (removal of the ovaries) and hysterectomies. The two younger sisters have also had the surgeries as a preventive measure, even though neither has been diagnosed with cancer.

"Some people don't want to be tested because they don't want to know," Humphreys says, but knowing can help them make decisions about treatment.

The gene mutation can be detected with a simple, though expensive, blood test. Most insurance companies cover the test, she says, if a patient's family history includes risk factors — breast cancer before age 50, ovarian cancer at any age, male breast cancer at any age, multiple primary cancers, Eastern Ashkenazi Jewish ancestry, or relatives who are BRCA mutation carriers. In women with Hereditary Breast and Ovarian Cancer (HBOC) syndrome, prophylactic mastectomy reduces the risk of breast cancer by more than 90 percent, and removal of the ovaries can reduce the risk of breast cancer by as much as 50 percent.

Humphreys was the first Kimball sister to be diagnosed, at age 31. When Wendi and Kristy were later diagnosed, also in their 30s, the sisters began to suspect that something more than bad luck might be at work.

It turned out that the sisters had inherited the genetic mutation from their father. Initially, doctors didn't ask about their paternal family medical history, but investigation revealed that their father's mother, grandmother, grandmother's sister and great-grandmother all had died of either breast or ovarian cancer.

After testing positive, the sisters started the nonprofit Kimball Family Foundation (kimballfamilyfoundation.com) to promote genetic breast and ovarian cancer education and to fund research on HBOC genes. Between 5 percent and 10 percent of breast cancers are believed to be due to an inherited cause.

Despite her family's brushes with cancer, Humphreys says that developing the disease has given her and her sisters a chance to educate others. "I am so grateful that I got it. I truly mean that."

e-mail: jarvik@desnews.com