Understanding BRCA2 Mutation: What a Genetic Test Results Mean

Early Symptoms and Stage 1 Colon Cancer Diagnosis at Age 37

Stachelski initially noticed worsening gastrointestinal symptoms during the summer of 2022. According to her interview with Healthline, her bloating became severe enough to make her look five months pregnant. She initially tried eliminating gluten and dairy with a dietitian, but the bloating persisted alongside debilitating abdominal pain that left her keeled over on her couch. A DNA-based stool test, the G-MAP test ordered by her dietitian, detected traces of blood in her stool, leading her to schedule an evaluation with a gastroenterologist.

A subsequent colonoscopy revealed a cancerous polyp. Following a delay due to the holiday season, Stachelski received her official stage 1 colon cancer diagnosis shortly after the New Year. She underwent surgery to remove the tumor, and because doctors caught the cancer early, she did not require further treatment, according to Healthline reporting.

Genetic Testing Reveals BRCA2 Gene Mutation

Following her cancer diagnosis, Stachelski’s oncologist recommended genetic testing to assess her inherited risk. Two weeks after the test, a genetic counselor informed her that she tested positive for a BRCA2 mutation, a finding that left her in complete shock because she knew of no breast or ovarian cancer history on her mother’s side of the family, as reported by Healthline. Stachelski was estranged from her father’s side, but she later learned that her father had died 14 years earlier of pancreatic cancer without ever undergoing genetic testing. Upon reaching out to cousins on her father’s side, she discovered a cousin of the same age who had been diagnosed with stage 3 colon cancer just two months prior to her own diagnosis.

Sara Pirzadeh-Miller, director of the Cancer Genetics program at the Simmons Cancer Center and an assistant professor in the School of Health Professions at UT Southwestern Medical Center, told Healthline that genetic testing for inherited cancer risk should be considered for individuals with certain kinds of cancers, early-onset cancers, multiple cancers, a strong family history, or a known hereditary mutation. Pirzadeh-Miller noted that BRCA2 mutations alone do not alter colon cancer lifetime risk or screening guidelines, explaining to Healthline that carriers should follow average-risk colorectal screening recommendations unless personal or family history independently dictates otherwise.

Risk-Reducing Surgeries and Clinical Trial Enrollment

Faced with elevated risks for breast and ovarian cancers, Stachelski worked with her genetic counselor to evaluate risk-reduction strategies. After three months of research, she rejected active surveillance because living on six-month intervals between biopsies caused too much anxiety, according to Healthline. In June 2023, she underwent a nipple-sparing double mastectomy requiring three separate procedures.

To address her ovarian cancer risk while avoiding premature menopause, Stachelski avoided a total hysterectomy as she was about to turn 38. Instead, in September 2024, she enrolled in a clinical trial at Mount Sinai Hospital that involves removing the fallopian tubes—where emerging research suggests many ovarian cancers originate—while delaying the removal of her ovaries until age 45, as reported by Healthline. Seven months after her initial colon cancer diagnosis, physicians also removed precancerous tissue from her stomach, and she subsequently learned her paternal grandmother had died of stomach cancer.

Advocacy and the BRCA and Beyond Podcast

To cope with the emotional toll and physical losses associated with her treatments, Stachelski utilizes talk therapy, according to Healthline. During her diagnostic journey, she began recording video updates on her phone and sharing her story on Instagram. Her posts resonated widely, prompting a high school acquaintance to get a mammogram after seeing her content, which led to the early-stage detection of breast cancer in the acquaintance.

Encouraged by her husband, Stachelski launched her podcast, BRCA and Beyond, in August 2025 to reach a broader audience with medical experts, survivors, and previvors, as reported by Healthline. The show quickly accumulated downloads and enabled her to work full-time in patient advocacy alongside organizations such as BRCA Strong, Lynch Syndrome Awareness, the National Society of Genetic Counselors, and FORCE (Facing Our Risk of Cancer Empowered).

Frequently Asked Questions

What caused Marisa Stachelski’s cancer diagnosis?

Stachelski was diagnosed with stage 1 colon cancer at age 37 after presenting with persistent bloating and blood in her stool. Subsequent genetic testing revealed she carried an inherited BRCA2 gene mutation, according to Healthline.

What does a BRCA2 mutation mean for cancer risk?

According to experts interviewed by Healthline, a BRCA2 mutation significantly increases the lifetime risk of developing breast, ovarian, fallopian tube, pancreatic, and prostate cancers, as well as melanoma.

How did Stachelski reduce her cancer risks?

Stachelski underwent a nipple-sparing double mastectomy in June 2023 and enrolled in a Mount Sinai Hospital clinical trial in September 2024 to remove her fallopian tubes while delaying ovary removal, according to Healthline.

What is the BRCA and Beyond podcast?

Launched by Stachelski in August 2025 after her cancer journey, BRCA and Beyond features medical professionals, survivors, and previvors to provide resources and education on genetic cancer risks, as reported by Healthline.

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