Genetic testing helps sisters in fight against cancer

Genetic testing helps sisters in fight against cancer

URBANA – When Pam Moore had breast cancer nearly three decades ago, she counted a lot on her two sisters to help her through it.

"I love my sisters, and I don't know what I'd do without them," she says.

Now, Moore has learned she and her sisters share more than love: They all inherited the same genetic mutation that substantially increases their risk for breast and ovarian cancers.

How did they find out? Through genetic testing.

Moore, 55, of Paxton, had breast cancer in her 20s. But it wasn't until she and her two sisters – Tammy Rumble, 48, of Rankin, and Penny Gaddis, 58, of Hoopeston – lost their brother to liver cancer in 2007 that they became more interested in a potential family cancer connection.

They eventually saw Carle Clinic genetics counselor Jennifer Burton and underwent blood tests. An analysis done by an outside lab showed all three carry a harmful mutation in the tumor-suppressor gene BRCA 1.

In normal cells, the genes BRCA 1 and BRCA 2 ensure the stability of a cell's DNA and help prevent uncontrolled cell growth, according to the National Cancer Institute at the National Institutes of Health. But harmful mutations in either of these genes have been linked to hereditary breast and ovarian cancers.

The National Cancer Institute says 12 percent of women in the general population will develop breast cancer, compared with 60 percent of women with harmful BRCA 1 or BRCA 2 mutations. For ovarian cancer, the risk in the general population is 1.4 percent compared with 15 percent to 40 percent for women with one of those genetic mutations.

Burton, who sees patients only with a physician referral, said genetic testing isn't for everyone and patients considering it should always consult their doctors first.

Genetics is a factor in only 10 percent of breast and ovarian cancers, she said, so most people aren't going to test positive for BRCA 1 and BRCA 2 mutations.

But when testing is done appropriately and the genetic mutations are found, Burton said, "we have some clear guidelines in terms of how to reduce your risk."

One step is to begin screening for breast cancer at an earlier age – 25 instead of 40, Burton said. Another is doing MRI breast screening to improve the accuracy of screening for younger women, who tend to have denser breast tissue, she said.

Another preventive option for some may be taking the drug Tamoxifen, which can cut the risk of breast cancer by half, though women taking this drug increase their risk for blood clots and uterine cancer, Burton said.

Still another option some women choose is undergoing preventive mastectomies. Removal of the breasts reduces the chance of breast cancer by 90 percent, she says.

Some preventive steps for ovarian cancer can include undergoing screenings such as blood tests and ultrasound, though ovarian cancer remains difficult to catch in its early stages, Burton says.

Women with BRCA 1 and BRCA 2 mutations who have finished bearing children can consider removal of their ovaries – a preventive measure that cuts most of their risk for ovarian cancer and also cuts the risk of breast cancer for premenopausal women by 65 percent, Burton says.

Another reason genetic testing may not be for everyone: It's pricey.

Burton says the testing through Carle runs $3,200, and even for those with health insurance, the patient's out-of-pocket share of that cost can run high.

Moore, Rumble and Gaddis say they've always gotten regular mammograms to screen for breast cancer, and knowing they inherited a genetic mutation hasn't made them fearful. But it has made them determined to make sure future generations of their family are vigilant about cancer screenings.

Gaddis, who participated in a clinical trial for Tamoxifen when it was offered through Carle Clinic, says she would encourage every woman to be equally vigilant. See your doctor, she urges, and don't be afraid.

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