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614

"I had genetic testing done a few days after being diagnosed with breast cancer because I wanted to find out whether or not I was BRCA1 and 2 positive. The results of the genetic tests would have helped me to decide whether I needed to have a double mastectomy. Unfortunately, since genetic tests take weeks to run, I did not have the results back prior to my surgery.

"I had three risk factors so I was considered high risk. (I have many family members with breast and other cancers, I was diagnosed before the age of 50, and I am Ashkenazi Jewish.) There was a sliding scale fee through the lab and the cost of my testing was mostly covered. I had an entire panel of genetic tests done.

"Luckily, I am BRCA1 and BRCA2 negative. However, I found out that I have a genetic mutation that has not been researched yet so it is called a variable of unknown significance (V.U.S.). It is possible that this V.U.S. is for the colon but there is no research on what the mutation is actually for??? Knowing that I have a genetic mutation but not knowing anything else about the mutation is very stressful and anxiety-provoking. I had a colonoscopy after finding out that I had the V.U.S. (I had a precancerous polyp in my colon so I am glad that I had the colonoscopy after finding out about the V.U.S.)

"The genetic expert who worked with me is phenomenal. She spent hours educating me and answering my questions. She has also spoken at my breast cancer support group. I would highly recommend that everyone have genetic testing done, if possible. I was able to reassure my children after finding out the results of my genetic testing. The genetic testing was a positive experience for me."

-- 614, tested positive for a variable of unknown significance

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