The Main Stream

Oct 25, 2010 8:52 AM

Breast cancer prevention through genetic testing

TUCSON - As breast cancer research improves every year, many women are discovering how their genes impact their chances of getting the disease.

The Arizona Cancer Center provides genetic counseling, which often involves a blood test to see if a someone has a genetic mutation. If there is a mutation, the risk for breast and ovarian cancer can be extremely high. For some women, that knowledge is empowering.

"This is my mom here, and she died when she was 39 of ovarian cancer," Irma Santa Cruz said.

It has been more than forty years since Santa Cruz and her sister Betty Villegas lost their mother, but their memories of her have not faded.

"I had no idea that she was going through any type of pain because she really hid a lot of the pain, we didn't see pain. I just remember that she would love corn tamales, and she would want to eat one so bad and she just said, I'm going to go ahead and eat it," Santa Cruz said.

In the years since their mother's passing, both Santa Cruz and Villegas have been diagnosed with and survived breast cancer. They also heard about genetic testing.

"I wanted to know everything about the gene. When the company sent me my sequence number, I googled it. I wanted to know, where did this DNA come from," Villegas said.

Both women tested positive for mutations in a gene called BRCA 1, which can put the lifetime risk for developing ovarian cancer as high as 60 percent. The lifetime risk for developing breast cancer can be as high as 87 percent.

Genetic counselor Jessica Ray says she has seen more families coming in to get this kind of testing. Her job is to help them decide what to do next.

"How can we reduce those risks as much as possible. Either by surgical options, or increased screening, or certain medications that we know of that can reduce risk," Ray said.

Several of Santa Cruz and Villegas' children have now been tested and the two have taken different steps to prevent future cancers. They say they are just glad to have choices, and each other.

"She doesn't listen to her older sister," Villegas said with a smile.

"I do most of the time," Santa Cruz said, laughing.

Along with all the pink ribbons you will see this October, you may also hear the term "previvor." A previvor is the name given to someone who has not been diagnosed with cancer, but has tested positive for one of these genetic mutations.


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