Tag Archives: Test

I Was About to Have a Double Mastectomy—Then a Genetic Test Changed My Life

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I have a lot of breast cancer in my family. I have an older sister who was diagnosed at stage 3 when she was 39, a grandmother who had stage 4 in her 30s, and an aunt who was diagnosed after menopause.

Last summer, when I was 48, I finally had a mammogram after not getting around to it for a few years, and I got a suspicious result. I had a second mammogram and a biopsy. The doctors found DCIS, or cancer/dcis-breast-cancer”>ductal carcinoma in situ. DCIS is really pre-cancerous cells, and the hard thing is that sometimes it turns into invasive cancer and sometimes it doesn’t. Doctors tend to treat it all the same pretty aggressively. Given my family history and my diagnosis, my surgeon thought it was likely my DCIS could turn into invasive cancer. He recommended that I get a double mastectomy.

My sister, facing a second cancer diagnosis, decided to undergo genetic testing. She found out she’s a carrier of a genetic mutation which increases breast cancer odds called CHEK2. (A CHEK2 mutation doubles breast cancer risk, according to the American Cancer Society.) That was another piece of data for my doctor, who assumed I was probably a carrier too.

RELATED: The 5 Breast Cancer Stages, Explained

“Hold on,” I said, “let me get tested myself to confirm that.” My doctor ordered a breast cancer gene test from a company called Color. [Note: Katie Stanton, Color's chief marketing officer, is on the board of directors of Time Inc., the parent company of Health.

When she called me after she got the results back, she was kind of speechless. She couldn’t believe it, given my DCIS diagnosis and my family history, but I wasn’t a carrier for CHEK2 or BRCA mutations, which also increase breast cancer risk.

The results totally changed how I chose to treat my DCIS. Without the test, I would have gotten a double mastectomy, taken tamoxifen for 10 years, and had radiation. Testing enabled me to decide on less treatment, which felt safe and right for me. Unfortunately, there’s a narrative that more testing means more treatment, but my situation was exactly the opposite. I chose to treat my DCIS with just a lumpectomy. It was a complicated decision, but a minimally invasive course of treatment was the right choice for me.

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I’m one of five kids, and three are carriers of CHEK2. One brother and I are not. It’s weird to know my sister has suffered so much given her genetic predisposition, and I was incredibly lucky not to be in that same situation. I feel like genetic testing saved my breasts.

*Name has been changed for privacy.


www.health.com/breast-cancer/genetic-testing “>
Breast Cancer – Health.com

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Severed head of eccentric Jeremy Bentham to go on display as scientists test DNA to see if he was autistic 

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