Her Bloating Turned Out to Be Colon Cancer at 37. Then She Learned She Had a BRCA2 Mutation

• Marisa Stachelski was diagnosed with stage 1 colon cancer at age 37 after experiencing persistent bloating, pain, and blood in her stool.
• Genetic testing later revealed a BRCA2 mutation, which can significantly increase the risk of several cancers, including breast and ovarian cancer.
• Stachelski chose risk-reducing surgery, including a double mastectomy and fallopian tube removal, and now undergoes regular cancer screenings.

Marisa Stachelski was 37 years old in the summer of 2022 when she began experiencing GI issues.

“I had bloating that progressively got worse,” she told Healthline. “Almost like a five-months-pregnant kind of look.”

She initially chalked it up to her diet and worked with a dietitian to see whether eliminating foods containing gluten and dairy would help. However, the bloating didn’t go away, and she began to feel pain.

“On a few occasions, I was actually keeled over on my couch. I couldn’t really move. And I’d never experienced anything like that. Nothing would help,” Stachelski said.

Her dietitian ordered a G-MAP test, a DNA-based stool test that analyzes gut microbiome and overall digestive health. Results showed traces of blood in Stachelski’s stool.

“And then I started physically seeing blood in my stool when I went to the bathroom, and it became consistent, and more often, and more of it,” she said.

Shortly after, she saw a gastroenterologist who conducted a colonoscopy and discovered a cancerous polyp. However, because it was the holiday season, Stachelski had to wait a few weeks to get into an oncologist to determine the stage of cancer and treatment.

“I was in my basement wrapping gifts for my then-3- and 5-year-olds with tears streaming down my face, wondering if this was going to be my last Christmas with them,” said Stachelski.

Shortly after the New Year, she was diagnosed with stage 1 colon cancer. After several months of further tests, she underwent surgery to remove the tumor. Because it was caught early, she did not need further treatment.

Genetic testing reveals a BRCA2 mutation

Stachelski’s oncologist recommended genetic testing to see if she was at high risk for colon cancer, and she underwent genetic testing a week after learning her colon cancer was stage 1.

“I was kind of on a high, thinking I made it out of the woods, this is great, we caught it early,” she said. “And felt the genetic testing was just another box to check off.”

However, two weeks later, the genetic counselor called to inform her she tested positive for the BRCA2 gene mutation, which significantly increases the lifetime risk of developing several types of cancer, including breast, ovarian, and fallopian tube, as well as pancreatic and prostate.

“I was in complete shock. None of it made sense as there was no breast cancer or ovarian cancer that I knew of on my mom’s side of the family,” she said.

But her father died 14 years earlier of pancreatic cancer. Because he was never tested for a genetic mutation, she didn’t know whether the BRCA2 mutation had come from her father’s side of the family.

“I was estranged from my dad’s side of the family, and so I didn’t know much about his family history,” she said.

She began reaching out to cousins on her dad’s side and learned of one her age who had been diagnosed with stage 3 colon cancer just two months before she was.

Sara Pirzadeh-Miller, director of the Cancer Genetics program at the Simmons Cancer Center and an Assistant Professor in School of Health Professions at UT Southwestern Medical Center, said genetic testing for inherited cancer risk should be considered for people with certain kinds of cancers, early-onset cancers, multiple cancers, a strong family history of cancer, or a known hereditary cancer mutation in the family.

Currently, people with certain types of cancer may be eligible for genetic risk assessment regardless of their family history, including those with ovarian cancer, pancreatic cancer, metastatic prostate cancer, breast cancer diagnosed at age 50 or younger, or male breast cancer.

“A genetic counselor can help determine whether testing is appropriate and which test is most informative,” Pirzadeh-Miller told Healthline.

How a BRCA2 mutation changed her approach to cancer prevention

BRCA2 mutations are not sufficient alone to change colon cancer lifetime risk or colon cancer screening recommendations, said Pirzadeh-Miller.

“Family history of colon cancer or other personal risk factors that impact colon cancer risk are the determining factors for colon cancer screening planning,” she said. “BRCA2 carriers should follow average-risk colorectal cancer screening recommendations unless their personal or family history independently warrants increased screening recommendations.”

Stachelski took the cancer risks associated with BRCA2 seriously, and she said her genetic counselor discussed several risk-reduction options with her, including a double mastectomy, hysterectomy, and additional screenings.

“I remember sitting there going, this lady’s crazy. These are healthy tissues; these are healthy organs. Why would I go to that extreme?” she said.

After researching her options for three months, she decided the surveillance route would cause too much stress.

“I couldn’t live my life on six-month increments, on pins and needles, and then go for biopsies every time something is questionable,” she said.

In June 2023, she chose a nipple-sparing double mastectomy, which required three separate procedures.

“It was a tough year that’s for sure,” said Stachelski.

She was also able to delay having a total hysterectomy.

In September 2024, she enrolled in a clinical trial through Mount Sinai Hospital based on emerging research suggesting many ovarian cancers may originate in the fallopian tubes before spreading to the ovaries.

By participating in the trial, she had her fallopian tubes removed to reduce ovarian cancer risk, while delaying ovary removal.

“I was about to turn 38 and didn’t want to go into early menopause having a total hysterectomy,” Stachelski said. “The trial gave me an opportunity to do something rather than just sitting and waiting and hoping I don’t get breast or ovarian cancer.”

She is still enrolled in the trial and checks in with researchers annually. Under current guidelines, she’s expected to have her ovaries removed by age 45.

Living with an increased risk of cancer

Seven months after her colon cancer diagnosis, doctors found precancerous tissue in Stachelski’s stomach. They removed the tissue, and she didn’t require more treatment.

Shortly afterward, she learned that her paternal grandmother had died of stomach cancer, adding to the cancer history she had discovered on her father’s side of the family.

Today, she follows up with her breast and plastic surgeons annually and continues to have a colonoscopy and endoscopy every two years. She also sees a dermatologist annually for a full-body skin cancer screening, since melanoma is a known risk associated with BRCA mutations.

She is currently in the process of enrolling in a separate clinical trial for pancreatic cancer screening.

To cope with all that she’s been through, Stachelski leans on talk therapy.

“It helps me process everything,” she said. “I experienced a lot of loss, and I’m still mourning the loss of not only body parts, but the finalization of not being able to have more children if we wanted to.”

Turning her cancer experience into advocacy

Early in her diagnosis process, while she was still waiting on scans and staging, Stachelski started handing her husband her phone and asking him to record her.

She began sharing pieces of her journey on Instagram and was surprised by how many people reached out to her asking how she knew something was wrong, what her symptoms were, and what a family history of cancer might mean for their own risk.

But the moment that stood out most occurred when she was at a friend’s wedding. A woman she’d gone to high school with, whom she hadn’t seen in years, approached her in tears.

“She said, ‘You have no idea, you saved my life,’” Stachelski said.

The woman told her that because she was adopted, she didn’t know her family’s health history. After seeing her stories, she was inspired to get a mammogram and discovered she had early stage breast cancer.

“She was like, ‘I would have never known, I would have never seen it, I would have never caught it in time,’” Stachelski said.

Around that time, her husband suggested she start a podcast to reach more people. She recorded her first episode at her kitchen counter, using a lavalier microphone plugged into her phone.

“It received, within a day, 110 downloads,” she said.

The first episode, released in August 2025, launched her podcast BRCA and Beyond, which features medical experts, previvors, and survivors.

“I cry every time I think about it,” she said. “It gives meaning to my story and goes beyond just me, my family, my inner circle. It’s an outlet, a resource for other people.”

She now works full-time on the podcast and in partnership with nonprofit organizations, including BRCA Strong, Lynch Syndrome Awareness, National Society of Genetic Counselors, and FORCE (Facing Our Risk of Cancer Empowered).

“The cancer risk took my fertility, but I created my own baby,” said Stachelski.