Seven People With BRCA Mutations on How They Weighed Risk, Chose Surgeries, and Felt About All of It

The BRCA genes (BReast CAncer genes 1 and 2) are tumor suppressor genes, meaning that they exist to produce proteins to help repair damaged DNA. People who inherit a mutated version of BRCA1 or BRCA2 are at a significantly higher risk of developing a variety of cancers at younger ages. Over 60% of women with a BRCA mutation will develop breast cancer. A BRCA mutation also puts women at higher risk for ovarian and pancreatic cancer. And, although it’s less common, men with the mutation are at a higher risk for breast, prostate, and pancreatic cancer as well. The general prevalence of the BRCA mutation is 1 in 400 people. However the risk is much higher if you’re of Ashkenazi Jewish descent.

With this information about the risks of having a BRCA mutation, there are many paths. Some people choose to have preventative surgeries, like double mastectomies or a hysterectomy. Others choose a watch-and-wait approach, with regular scans and screenings to monitor for an early stage of a cancer growth. Many, as you’ll see below, pursue a combination of these approaches.

Below, seven women on their experience finding out they had a BRCA mutation, and what they did with this information.

A Cancer Researcher, Whose Family Didn’t Tell Her About Her Risk, and Found Out Through Her Colleagues

Theresa Colligon, now 54, a cancer researcher at Penn, found out about a BRCA mutation in November 2017 at 47; she got a hysterectomy in January 2018, mastectomy in 2019

I worked in a lab that was looking for BRCA2, and we needed controls. We did an African American study and needed Caucasian controls, so I brought my kit to a family reunion and collected my entire family, never thinking we would be positive. My grandmother had breast cancer, but she didn’t have BRCA.

Later, after I no longer worked in the lab, they randomly pulled 100 controls. Three weeks later, I got a phone call to come talk to the director. I thought it was a mistake—but it was me. They had to de-identify the samples, and it was really sad because it was people I worked with, and they knew it was me, and they were sad for me.

I found out and immediately scheduled my hysterectomy the next day. I was 46 going on 47, and they prefer to do it at 45 or under. There was absolutely no hesitation. This was my career, and now it was me.

We found out it came from my grandfather. His mother’s cousin, his daughters, and his son all had BRCA2. They had been given letters to send to family members years earlier, but they didn’t really understand the point. The sisters had prophylactic surgery, the brother had surgery. We learned a lot about gaps in genetic counseling, and a lot of training happened afterward.

Within a year, I had my total hysterectomy. I tried to wait on the boobs, always knowing it was an option, but then I changed my mind quickly. I ended up with a double mastectomy. I was fortunate enough to have enough belly fat to do a DIEP flap—they cut my belly and made me two boobs. People said I was lucky because I got a tummy tuck, but… I’m worried that I gave my kids the mutation.

Now we wait. My boys are 23 and 19. The younger one is like, whatever. The older one has a lot of anxiety and talks about it all the time. When do you tell someone you’re dating? When do you get engaged? Married? Want kids? It’s a lot. But we know there are ways to stop this, even if it’s expensive.

My opinion was: if you’re making babies, make your babies, then lose your ovaries. Deal with the boobs when you deal with the boobs.

The 21-Year-Old Struggling to Find a Provider Who Would Give Her the Surgery

Sophia Benson, 22, found out she had a BRCA1 mutation when she was 21 and immediately opted for prophylactic nipple-sparing double mastectomy

I got testing done because my aunt had breast cancer when she was 33. She also did genetic testing, which told her she was BRCA1 positive. My dad and my uncle did testing and were also BRCA1 positive. So we figured out that it came from my grandpa, their dad. I'm Ashkenazi and Sephardic, 50/50. My dad's Ashkenazi, so I guess it really just came straight down that line of my family and hit me.

I tested in June, and then found out I was positive that month. It was pretty horrifying. I did it through my gynecologist, but I really should have done it through a genetic counselor. My mom was actually doing a ton of research about it, and the more research we did, the more we realized that I need to get these surgeries. I was hearing all these other stories about women that waited and wished they didn't; because they were just getting screened and essentially waiting to get cancer. I didn't want to do that. I wanted to eliminate the problem before it happened. If I have to get screened every six months, I'm going to be an anxious mess. I didn't want to deal with that.

The decision to get the surgery for me was pretty quick. As soon as we realized we had this gene, we didn’t want to mess with it. I was meeting different surgeons. One said, I will absolutely not even screen you until you're 25. Yes, I'm young, and yes, this is a huge surgery, but I don't want to potentially have to wait to get cancers to do chemo and the surgery.

I had my double mastectomy on June 23. They put in expanders, which are kind of like placeholders for the implants. So I'm getting my second surgery to swap the expanders for implants over Thanksgiving [at the time of the interview].

I'm currently three weeks out of recovery, and I'm doing well. I gradually started gaining strength back, gaining energy back. And now I've been really okay, which I'm thrilled about.

A 33-Year-Old Thinking about Queer Identity and Her Mastectomy

Emel Oner found out she had a BRCA mutation when she was 24; and after 9 years, hopes to schedule her mastectomy soon in Los Angeles

My mom had breast cancer when she was around 36, when I was finishing middle school. Later, around 2015, when I was working my first job out of college, my aunt in Florida was also diagnosed with breast cancer. I believe she got genetic testing then and found out she had the mutation. I booked genetic counseling and got tested when I was 24.

Around next year, around Christmas time, I’m planning to get my mastectomy. Because I’m queer—I wonder, Do I want new boobs or no boobs? That’s a question mark. I had a really cool oncologist who talked to me about people who want more of a top-surgery appearance versus reconstruction. She helped direct me to different surgeons.

When I first learned about this, I thought, Okay, when I turn 30, I’ll do this. I’m now 33. Personally, I was always uncomfortable with my boobs because they’re bigger and brought unwanted attention growing up. With the diagnosis, and knowing I’d get a mastectomy in the future, it made me kind of make peace with them. I actually started liking them.

My main goal was to avoid chemotherapy. Even in early stages, they often recommend a full course just to be safe, and I’ve seen close family members go through that. It has so many implications for your body. I was getting annual MRIs, and starting at 30 I would also get mammograms. I try to space my gynecology and oncology appointments six months apart, so someone is giving me two breast exams a year.

Getting an Oophorectomy Immediately, a Mastectomy Ten Years Later, and a Full Chest Mastectomy Tattoo Three Years After That

Isabelle Lenchewski, a 46-year-old woman in New York, found out she had a BRCA mutation in her early 30s, after her father tested for the gene mutation as well

When my dad had cancer, I got tested for BRCA. He had pancreatic cancer and there was a trial they were considering for him, and he needed to be tested because it was related to whether he’d be eligible. That’s how we found out he had BRCA. I got tested pretty much right away. My dad even came with me to the genetic testing. I went to Mount Sinai, and I found out right away.

I was 30 or 31, and they said, ‘You’ll just do scans.’ At some point, when you know you’re done or not going to have kids, which I don’t, you’ll have your ovaries and fallopian tubes removed. There’s also the option to get a mastectomy at some point.

I said yes to the ovaries, that’s fine. Obviously, as a 30-year-old woman, I debated that, and it was very emotional over the course of 10 years. But once I made the decision, I felt good about the way everything went.

I went to my gynecologist and told her I wasn’t considering getting a mastectomy. I wanted to keep my breasts. I wasn’t convinced that having BRCA meant I was going to get cancer. A mastectomy felt very drastic for the way my brain understands my risk. But when I returned to my gynecologist, there were a couple of things she told me—either that I hadn't registered earlier or that I didn’t know—that made me feel like, Okay, this is a thing I need to do. It was devastating. I left that appointment crying.

I think the other part of that is that I’ve been alternating MRIs and mammograms every six months for 10 years. In my mind, I was like, I can just keep doing the scans. What I realized is that it’s not preventive. It prevents me from getting sicker, but it doesn’t stop me from getting cancer. I don’t think I was dealing with how emotional each scan was, and I put myself through that for 10 years. I don’t have any regrets about my timeline or my decisions. I think it went the way it needed to for me.

So, I decided in my mid-40s to do the mastectomy. With nipple preservation, for me, it would have added an initial surgery that would have had to come first, which meant pushing back the mastectomy.

I opted not to do it. I started Googling: ‘What kind of art tattoos do people get on a mastectomy? Is that a thing?’ And I found this image pretty quickly that I loved and saved in my phone before I even had my surgery. I’ve had this image in my phone for, like, three years. For the tattoo, you need someone who has experience specifically with scar tissue. In my research, I came across P.Ink, Personal Ink, which is under an umbrella organization called Fuck Cancer. They have an event once a year in October, and you have to be two years out from your surgery because you need to be healed enough.

I think there were eight or nine of us total getting mastectomy tattoos at Hustle Butter. They set up a dinner the Saturday night before. Everyone came with their husbands and boyfriends. I brought my friend Reza. I went to the dinner and got to meet some of the women, and I felt a little self-conscious, because I never actually had cancer. Sometimes when I’m in spaces where everyone’s been through treatment, I feel like I’m taking up space that someone else deserves more. I talked about that with one of the women there, and she was like, ‘You went through the mastectomy. You are here and should be.’ It was nice to meet the night before.

It was five hours in a tattoo shop where all these women were walking around topless, smiling at each other, supporting and encouraging each other while getting their tattoos, while all the husbands and boyfriends were eyes to the ground, looking very uncomfortable, not wanting to look up or make contact with anyone’s body—except my friend Reza, who’s a gay man.

The tattoo makes me so fucking happy. Every single time I look at it, I get this big smile. It’s so beautiful. Sometimes I find myself just touching it, feeling it.

The 39-Year-Old Woman Who Just Wants to Spare Her Kids What She Went Through

Julie*, a 39-year-old mother of three, who had a BRCA mutation, and who got a DIEP flap surgery after implants

My dad died of pancreatic cancer in 2000 when he was 39. I was 14. In 2015 (around 29), I felt a lump under my arm. Years earlier, my sister had mentioned genetics and BRCA, but we brushed it off. The lump was an inflamed lymph node, but imaging found two spots in my breast. I wanted a second opinion and went to MD Anderson’s undiagnosed breast clinic. The spots were benign fibroadenomas. A nurse practitioner asked about family history. My dad was adopted, so we didn’t know anything. Six months later, she suggested genetic counseling because of my dad’s age and cancer.

I was tested for 14 mutations. I had BRCA2. I was 29. I chose a prophylactic double mastectomy in December 2015. I’m checked every six months for ovarian cancer, and I get pancreatic surveillance because of my dad.

I did direct-to-implant reconstruction, but it was painful and didn’t work well for me. I had fat grafting, implant ruptures, slipping, and multiple surgeries. Eventually, we removed the implants and did a DIEP flap. I wish I would have done that at the very beginning. I had complications, and it was much harder than I expected.

The decision to get a mastectomy was a no brainer. I'm married, I have three kids. I was not having any more children. My husband is the biggest supporter that I have. Without that, I don't know that I could have done it.

They don’t tell you, with implants, they felt like rocks on your chest. There can be nerve damage. We did two or three different rounds of fat grafting to help cushion the implants, to help them look and feel a little more normal. My surgeon was wonderful in helping me.

In my mind, I thought more about being here for my kids versus what my body looked like. I watched my dad face cancer. I watched him go through chemo. I was a teenager, and it was terrible, and so I did not want my kids to have to do that. And if I can do anything in my power to you know, obviously we cannot, you know, completely dictate if we get cancer or not, but if I can reduce those chances, then I'm going to do whatever is necessary.

Getting a Mastectomy After Finding Atypical Cells, and Hearing They’d Likely Become Cancerous in a Couple Months

Kaylie Savitz, a 28-year-old, flight safety professional in Orlando, Florida was diagnosed with a BRCA2 mutation at 26, and got her mastectomy the year after testing

I found out early enough to be proactive, which not everyone gets. I got tested because my dad had lung cancer and non-Hodgkin lymphoma, years apart, and he never smoked. His oncologist suggested genetic testing. He came back positive for BRCA2. He also came back positive for the CHEK2 mutation [CHEK2 mutations increase the risk of some cancers]. I have an older sister, and we both got genetic testing afterwards. I came back with BRCA2, and she came back with CHEK2, so it split right down the middle.

My dad’s mom passed away from breast cancer, pretty young, so the guidelines would recommend us to start screening earlier than normal. For women, normally it’s like 40 you’re supposed to start getting mammograms. For us, we probably would have started at like 35, 36, but if I had waited that long, I probably would have had cancer already. So I found out I had BRCA, and I immediately went and spoke to a high risk specialist and I had a mammogram. Of course, I check off all the boxes that are high risk. Like, it’s in the family, we’re Ashkenazi Jewish descent, I have the gene, my dad also had cancer. Literally like, all the boxes checked. Then I get the mammogram, they’re like ‘Oh, you have dense breast tissue.’ And that’s another red flag. So it just snowballed into everything else, and it just turned out to be the right choice for me to get the prophylactic double mastectomy.

I didn’t jump into it saying, ‘oh my God, I want these gone now.’ I didn’t think I would have to make that choice. But after multiple biopsies and MRIs with biopsies, the last test that I did came back with atypical cells in the duct. My high-risk surgeon essentially told me, if I waited, that it would become cancer in a couple of months. So I was very thankful that I had done all the testing already, because I would not have done it if I didn't get the genetic testing or anything. That’s what I was looking for. That was enough. I was like, Okay, this is not cancer. But a mastectomy is the right choice, because it will become cancer.

Finding BRCA, With No Apparent Risk, Because of a Friend’s Dying Wish

Abby Grayson, 48 age, who has a BRCA mutation, and the story of her friend Sheryl, who convinced her to get tested

It’s an incredible story. I don't really tire of telling it. My friend Sheryl died ten years ago. She was a young woman, about to get married. She came across a lump in her breast and had it checked out, and it turned out to be breast cancer. It was an early stage, and they said, ‘Everything will be fine, you’ll get over it. It’ll be wonderful. You’ll survive, and you won’t think about it again.’ She got married and then had treatment and a mastectomy. Within a year, however, the cancer was back in her liver, and it quickly metastasized… to her spinal fluid. She was 34 when she died.

She was really an advocate for all women to get tested. And she especially wanted Ashkenazi Jews to get tested. She had asked me to get tested; my husband and I were really involved with her care. And I was hesitant because I don’t have any evident history in my family. I did ask my doctor, and my doctor said, ‘No, we don’t do that. If no one in your family has had breast cancer, you don’t need to be tested.’ Sheryl thought that was ridiculous.

A few months later, she was really close to dying. She said, ‘I’m not going to live long to be an advocate the way I want to be, and you’re going to have to do it for me. You’re going to have to educate people.’ I said, ‘Ok, I will. I will get tested, and I will make sure that I find a way to do it. And if you’ve saved me, your work is done.’ She was clearly comforted by that.

I went back to my doctor and said, ‘Listen, do me a solid. I made a deathbed promise to my friend to get tested.’ Three weeks after my friend died is when I got the result, and I was positive for a BRCA mutation. There’s some kind of weird, divine element in that story that I can’t really explain or understand. I’m not a big believer in that way. But there’s something that gives me the chills every time I think about it.

I was 37 at the time. I’d never had a mammogram. I was kind of beside myself–what if I already have cancer? I very quickly decided to get a preventative mastectomy. I think that a lot of people take more time with it, but I didn’t because I had just watched my friend die in a spectacularly horrific way. I had a complete hysterectomy after I had my second daughter. I knew that’s what Sheryl would’ve wanted.

*Interviews have been edited for length and clarity. Names and some identifying details have been changed at the subject’s request.