Woman Got Unnecessary Mastectomy Because of Perceived Breast Cancer Risk — How Accurate is Genetic Testing?

A Kansas City, Missouri, woman says that she got a preventative mastectomy for no reason. She learned years after the surgery that she did not, in fact, have the gene that significantly increases a woman’s chance of developing breast cancer — despite being told by doctors that she tested positive in her early twenties.

We talk about genetic testing here at SurvivorNet really often. It can be an incredible way to take control of your health, and make appropriate changes if you find you are at risk for cancer. However, the question of how reliable genetic testing is is a really important one.

Not long ago, we spoke to Dr. Beth Karlan, Director of the Women’s Cancer Program at Cedars-Sinai Medical Center in Los Angeles, and she said discussing cancer risk and genetic testing is really important for those concerned about risk.  “If you have a family history of cancers, you should definitely discuss with a genetic counselor or your physician whether or not you should have genetic testing,” she said. “Genetic testing can provide you, empower you with such important information and direct you to actions and screening tests that can save your life by finding cancers even earlier.”

In Maureen Boesen’s case, she knew her genetic risk of developing breast cancer was probably high because of the sheer amount of women in her family who had died of the disease, according to KSHB Kansas City. Boesen’s mother was diagnosed when she was just 32 years old, so she and her three sisters underwent genetic testing to assess their risks when they were young — and could still take steps to prevent the disease if they needed to.

Boesen and her sisters waited until after their 21st birthdays to look at the results, assuming they were not at risk when they were younger. Boesen was told she had a BRCA mutation — which significantly increases a woman’s risk of developing breast cancer, and hikes her risk of developing ovarian cancer as well. Doctors often suggest women who have the BRCA mutation, as well as a family history of breast cancer, undergo a preventative or prophylactic mastectomy.

“The family history component is key,” Dr. Elizabeth Comen, a medical oncologist at Memorial Sloan Kettering Cancer Center and an advisor to SurvivorNet, said when discussing prophylactic mastectomies in general. “It’s very important that a woman talk to their doctor about what their options are depending on their age. There are some women that might say at age 25 they want a bilateral mastectomy, in which case they won’t need any screening in terms of imaging for the rest of their lives … most women with BRCA1 or BRCA2 end up getting prophylactic surgeries.”

Boesen was told that she should have the double mastectomy and then later, a hysterectomy. She underwent the mastectomy surgery when she was just 23 year old. She was told she didn’t actually have the BRCA mutation right before she had the hysterectomy. She was able to have children, but she missed out on breast feeding and bonding with them in that way because of the cancer risk she thought she had. Stories like this are infuriating, but with ever-improving advancements in medicine, hopefully Boesen’s will be one of the last.

“I was angry. I was regretful. I was happy. I was sad,” Boesen said when discussing her immediate reaction to hearing she didn’t actually carry a BRCA mutation. “I so desperately wanted to feel relief, ‘I, thank God, this is the best day of my life,’ but it wasn’t. It was just devastating.”

Dr. Jennifer Klemp, of the University of Kansas Cancer Center, told KHSB that Boesen’s results could have been inaccurate because of how long ago she was tested. “Twenty years ago, when we sent our first tests and BRCA 1 and 2 were the two genes we tested for, about 30-40% of the time we would get something called a ‘varient of uncertain significance.’ Basically that meant we found a mutation or an error in the DNA, but we didn’t know if that was associated with an increased risk of cancer. Today, using a reputable lab, that should be less than 1-2%.”

That’s a big improvement. Of course, stories like Boesen’s are scary, but genetic testing has saved countless lives … and it can empower people with knowledge about their health, and prevent cancers from developing.

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