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Marisa Stachelski chooses risk-reducing surgery after BRCA2 test

After a stage 1 colon cancer diagnosis at 37, genetic testing found a BRCA2 mutation associated with higher risks of breast, ovarian and other cancers.

Marisa Stachelski chose risk-reducing surgery after genetic testing found a BRCA2 mutation following a stage 1 colon cancer diagnosis at age 37 in 2022, Healthline News reported Sept. 12.

Evidence grade: Claim (no study cited). In the Sept. 12 Healthline News article, Stachelski’s stage 1 diagnosis mattered because surgery removed the tumor and she did not need further treatment, according to the report.

Stachelski first reported gastrointestinal symptoms in the summer of 2022, including persistent bloating, pain and blood in her stool. A gastroenterologist performed a colonoscopy and found a cancerous polyp, Healthline reported.

“I had bloating that progressively got worse,” Stachelski said in the Healthline article. “Almost like a five-months-pregnant kind of look.”

Her oncologist later recommended genetic testing. Two weeks after the test, a genetic counselor told her she had a BRCA2 mutation, which Healthline said can significantly increase lifetime risk of several cancers, including breast, ovarian, fallopian tube, pancreatic and prostate cancer.

Stachelski said she had not known of breast or ovarian cancer on her mother’s side of the family. Her father had died 14 years earlier of pancreatic cancer, and he had not been tested for a genetic mutation, according to the article.

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 inherited cancer-risk testing should be considered for people with certain cancers, early-onset cancers, multiple cancers, a strong family history or a known hereditary cancer mutation in the family.

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

The article also included an important limit: Pirzadeh-Miller said BRCA2 mutations alone are not enough to change lifetime colon cancer risk or colon cancer screening recommendations. She said family history and other personal risk factors determine colon cancer screening planning.

Stachelski chose a nipple-sparing double mastectomy in June 2023, requiring three procedures, according to Healthline. In September 2024, she enrolled in a Mount Sinai Hospital clinical trial and had her fallopian tubes removed while delaying ovary removal.

Healthline reported that she now follows up annually with breast and plastic surgeons, has a colonoscopy and endoscopy every two years, and sees a dermatologist annually for full-body skin cancer screening. She is also in the process of enrolling in a separate pancreatic cancer screening trial.

The report cannot show that Stachelski’s BRCA2 mutation was linked to her colon cancer, that bloating alone indicates cancer, or that her surgical choices are appropriate for other people. The article did not provide absolute cancer-risk estimates, confidence intervals, trial results or funding details for the Mount Sinai study.

The information applies most directly to people with early-onset cancer, certain cancer diagnoses, multiple cancers, a strong family history or a known hereditary mutation in the family. It does not establish a general screening plan for adults without those risk factors.

Source: Healthline News article, Sept. 12, 2026.

Atlas360 reports health research and does not provide medical advice.

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