Genetic testing uncovers risks


Whether it be breast, colon, esophageal or melanoma, cancer has several branches on Kristina Lazarus' family tree.

Lazarus recently underwent a double mastectomy as part of treatment for breast cancer. She and a sister also have survived melanoma.

So, when her oncologist suggested she undergo genetic testing to determine whether she had a particular gene mutation associated with breast cancer, Lazarus went for it. She did it for her children.

"I didn't want to be on pins and needles for the rest of our lives,'' she said about making the decision to take the test after realizing several relatives either had cancer or died of it. "If the test had come back positive, my worry would have been about my children as well as my sisters and nieces. But at least I would have known.''

Fortunately, Lazarus' test came back negative. But even if the test had been positive, she is thankful families with a history of cancer have a way to determine whether other family members are at risk.

Though it has been around for years and is available for many types of diseases, genetic testing has garnered a lot of attention recently from breast cancer patients, said Dr. Mika Cline-Burkhardt, an oncologist at Comprehensive Cancer Centers of Nevada.

One reason is the prevalence of breast cancer continues to rise, though women are surviving it at a much higher rate than 10 years ago. Also, breast cancer patients and survivors are becoming more vocal about early detection and prevention.

Genetic testing for breast cancer, which is a simple blood test to determine whether a person carries the BRCA1 or BRCA2 gene mutations, can be considered a preventive measure. Individuals with the gene mutations will know they are at risk and should ask for certain tests to detect diseases earlier.

In some cases, individuals with the mutations may opt to remove at-risk tissue, such as undergoing a mastectomy, to prevent breast cancer. To prevent ovarian cancers, a woman could remove her fallopian tubes and ovaries.

Ovarian cancer is linked to breast cancer gene mutations, so individuals diagnosed with breast cancer also are at risk for ovarian cancer.

Cline-Burkhardt said the BRCA1 and BRCA2 gene mutations are most common in families that have had members with two primary cancers. Such was the case with Lazarus, whose father had esophageal cancer and died of colon cancer.

Kapka Prunty, a 30-year-old Las Vegan who has undergone genetic testing, lost her mother to ovarian cancer about three years ago. Her grandmother died after contracting ovarian and breast cancer.

Prunty's genetic test came back positive. "I'm not sick yet. I have to stay on top of this. I have to think about the people I care about. I don't want my daughter growing up without a mother.''

Prunty's mother was diagnosed at age 44 and died at 51. Her grandmother died at 49.

Prunty began genetic testing at 27 just after the birth of her daughter, Cassidy.

In addition to annual mammograms -- typically recommended for women older than 40 -- Prunty has regular ultrasounds and undergoes a blood test every six months to check for cancer cells.

Though genetic testing is a valuable tool in early detection of cancers, Cline-Burkhardt said physicians still need to make sure patients are prepared for the outcome. They want to know whether "you are ready to get the positive result and how might you react to that result,'' Cline-Burkhardt said.

"Also, you might be wondering if your insurance is going to be denied because this may be considered a pre-existing condition. We haven't had that happen yet, but you never know.''

Cline-Burkhardt said genetic testing isn't for everyone.

Even in her own practice, she recommends the test less than 10 percent of the time.

"A lot of patients come into the office and think it is all genetic,'' she said. "That's not true. Breast and colon cancer are the top three cancers among women; but only about 5 percent are truly genetic, where you are passing the gene on to a son or daughter.''

The bigger issue is to know what diseases reside on your family history tree, she said.

"When you ask patients about their family history, you notice, especially with older patients, that they know someone in the family who died of cancer. They just don't know what kind. We encourage everyone to be aware of their family medical history. You will be far ahead of the curve.''

 

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