GENETIC JOURNEYS

A Young Mom Takes

Preventive Action

Molly Stuart, 33, Cincinnati.
Stay-at-home mother of a two-year-old;
expecting her second child in June 2019.

I knew I had to make decisions that
would be best for my family.

Molly Stuart, 33, Cincinnati.
Stay-at-home mother of a two-year-old;  expecting her second child in June 2019.

My mother had breast cancer and found out she had a mutation in the BRCA1 gene. She definitely wanted me to be tested. And my aunt was diagnosed with breast cancer at age 31, and died at 41—which is pretty scary and a big reason I wanted to get tested sooner rather than later.

But I was nervous. Back in my 20s, I thought, “What if nobody wants to date me or marry me? What if I need a mastectomy?” As I got older, I decided it was a lot more important to take care of myself.

Two years ago, I talked to my primary care physician about testing, and she didn’t really know much about it. She told me I didn’t need to do anything until age 40; I was 31 at the time.

Thankfully, my husband said, “That’s not right.” He pushed me to go ahead and get tested.

At the time, I had a newborn, and my husband travels every week. I was so happy that I could meet with my genetic counselor from home, by video. Not having to load the baby in the car, drive downtown, find parking—it was very nice.

Going into the testing, I was expecting a positive result, due to my family history.

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GENOME MEDICAL TREATMENT NOTES

Molly underwent genetic testing for 17 different genes linked to hereditary breast cancer. Although her mother was known to have a BRCA1 mutation, about 3 percent to 5 percent of women and men can actually have more than one hereditary cancer gene mutation, and she did not want to miss any potential additional risks.

We learned that she had the same BRCA1 mutation as her mother (and nothing else). We then discussed that her lifetime chance of developing breast cancer was 60 percent and ovarian cancer about 30 percent to 50 percent. Due to her having a higher chance of developing these cancers, we discussed her cancer screening and prevention options. This includes screening for breast cancer at a younger age (starting under the age of 40) and screening with mammograms and MRIs of her breasts in addition to breast exams by a physician every six months. Some women choose breast cancer prevention by either having their breasts preventively removed (called a prophylactic bilateral mastectomy) or taking a medication called tamoxifen (though this less effective in women with BRCA1 mutations). In terms of managing Molly’s ovarian cancer risk, there is no effective test to detect ovarian cancer early, so all women are recommended to have their ovaries and fallopian tubes removed around the age of 35 or later, depending on when a woman is done with her family planning. Studies are looking at the benefits of removing just the fallopian tubes before menopause and then the ovaries after menopause, but this is not a standard prevention recommendation as of yet.
Scott Weissman, MS LCGC
Molly’s Genome Medical genetic counselor

It was somewhat of a relief to finally know that I was positive and could immediately start coming up with a prevention plan. I knew I had to make decisions that would be best for my family. So I was mainly thinking about how I could prevent getting breast cancer altogether.

It was great to have my genetic counselor there to talk to about my options and come up with a plan. I felt very comfortable talking to him and asking him questions. It felt a lot more personal than I expected.

Now I go every six months to my breast surgeon and have a mammogram. Six months later, I have an MRI. After I have my next baby, I’m thinking that a year or so later I will have a double mastectomy. My genetic counselor also said that I would need to have my ovaries out by age 35. That was another factor in thinking about how many kids I will have, and when to have kids.

It makes me feel a whole lot better knowing I can take care of the problem and  don’t have to worry about it.

It gives me peace of mind.

Have questions about how your genetics may impact your health? Genome Medical is now accepting new patients.