Genetic testing finds mutations that may lead to breast & ovarian cancer

Dr. Rebecca Booth
Dr. Rebecca Booth
Source: Janelle MacDonald
Source: Janelle MacDonald

By Janelle MacDonald - bio | email
Posted by Charles Gazaway - email

LOUISVILLE, KY (WAVE) - Breast cancer is so universal that almost everyone knows someone who has been or is being affected. One in eight American women will get breast cancer in their lifetime. For me, that number is very personal.

My mother died of breast cancer when I was 13. That's why I made a decision a couple of months ago to really look at my genetic risk, using a test I did in Louisville.

I've already heard from some of you who believe this test can save lives. Michelle Bibee wrote me that she believes her mother would be alive today if she had it earlier. Maybe my mother would have too?

I had very normal, very American pie, childhood: a loving mom, a hard-working dad, a house in the suburbs, two little sisters. Then when I was 10 or 11, the bottom fell out. My mom was diagnosed with breast cancer.

We don't have many pictures from the two years she fought, and fought hard, to beat the disease, trying just about every treatment available. It's not something you document with photographs. In the end, cancer won and ever since then, somewhere in the back of my mind, I feel it's coming for me too.

My doctor, Dr. Rebecca Booth, is so great about what that means to me, how to keep cancer away from my life. A couple of years ago, she brought up the idea of being tested for the genetic mutations that would put me at even higher risk for developing breast cancer.

"In your case, your mother was affected by breast cancer at a really early age, before her menopause and her vital years what is it about your mother's health that made her a little more vulnerable? It might be the BRAC gene. Odds are it wasn't but if it was, you have a 50% chance of being affected." Dr. Booth explained.

At first, I really just didn't want to know but she kept after me, telling me that knowing I had the mutation would affect how I am screened each year - MRIs in addition to traditional mammograms, maybe even preventative surgery.

I finally decided to take the plunge.

Getting the test is like getting stuck twice. First, with the needle, which I'm scared of, and then, there is the knowledge that a person with a mutation of the BRCA1 or BRCA2 gene has about an 80% lifetime risk of getting breast cancer and somewhere around a 40% chance of ovarian cancer.

There is also the cost.

"The absolute cost for the test is around $3,000," said Dr. Booth, "and depending on the insurance company, there may be a co-pay or there may not."

Myriad Labs, the lab that identified the genetic mutations, developed a screening and is testing for the mutations, says most insurers cover that cost. Myriad says the average patient pays about 10%. I haven't gotten my bill yet, so I can't tell you if that was true for me. But I have gotten the results: negative for both mutations.

I thought of my mom when I heard the news. I was relieved that those genes aren't haywire, making it more likely her fate will become mine, but I still can't shake the feeling that cancer will come after me at some point.

My doctor says just because I don't have the mutation, doesn't mean I won't get breast cancer, or even that my risk is low.

"(It) doesn't mean that you're home free because having a mother affected by breast cancer does increase your risk," Dr. Booth said.

But Dr. Booth also said knowledge is power - knowledge that I need to maintain a low body fat, exercise, eat certain foods to do everything I can to lower my risk.

"I know a little bit about how I can prevent this," she said. "So that gives me the control to say, 'It's not going to happen to me and if it does, I can say I've done what I can to prevent it.'"

I was also very worried about other insurance issues. Namely, would my insurance company drop me if I had the genetic mutation because I was at such a high risk for developing cancer? Myriad says both federal and many state laws prevent genetic discrimination right now.

A final note: the ACLU sued Myriad, trying to overturn its patents on BRCA-1 and BRCA-2, basically trying to lower the cost of testing. In April 2010, a judge ruled against the lab, but it is appealing. A company spokesman said the lab is confident its patent will be upheld on appeal.

To learn more about the test and to see if you fit into one of the categories who are recommended for testing, click here.

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