{"id":768476,"date":"2026-09-12T16:12:13","date_gmt":"2026-09-12T16:12:13","guid":{"rendered":"https:\/\/www.newsbeep.com\/uk\/768476\/"},"modified":"2026-09-12T16:12:13","modified_gmt":"2026-09-12T16:12:13","slug":"colon-cancer-at-37-then-genetic-testing-revealed-a-brca2-mutation","status":"publish","type":"post","link":"https:\/\/www.newsbeep.com\/uk\/768476\/","title":{"rendered":"Colon Cancer at 37: Then Genetic Testing Revealed a BRCA2 Mutation"},"content":{"rendered":"

\"MarisaShare on Pinterest<\/a>After a stage 1 colon cancer diagnosis at 37, Marisa Stachelski (pictured above) learned she had a BRCA2 mutation that increased her risk of several other cancers. Photo: Marisa StachelskiMarisa 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.<\/p>\n

Marisa Stachelski was 37 years old in the summer of 2022 when she began experiencing GI issues.<\/p>\n

\u201cI had bloating that progressively got worse,\u201d she told Healthline. \u201cAlmost like a five-months-pregnant kind of look.\u201d<\/p>\n

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\u2019t go away, and she began to feel pain.<\/p>\n

\u201cOn a few occasions, I was actually keeled over on my couch. I couldn\u2019t really move. And I\u2019d never experienced anything like that. Nothing would help,\u201d Stachelski said.<\/p>\n

Her dietitian ordered a G-MAP test, a DNA-based stool test that analyzes gut microbiome and overall digestive health<\/a>. Results showed traces of blood in Stachelski\u2019s stool.<\/p>\n

\u201cAnd 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,\u201d she said.<\/p>\n

Shortly after, she saw a gastroenterologist who conducted a colonoscopy<\/a> 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.<\/p>\n

\u201cI 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,\u201d said Stachelski.<\/p>\n

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.<\/p>\n

Stachelski\u2019s 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.<\/p>\n

\u201cI was kind of on a high, thinking I made it out of the woods, this is great, we caught it early,\u201d she said. \u201cAnd felt the genetic testing was just another box to check off.\u201d<\/p>\n

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.<\/p>\n

\u201cI 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\u2019s side of the family,\u201d she said.<\/p>\n

But her father died 14 years earlier of pancreatic cancer. Because he was never tested for a genetic mutation, she didn\u2019t know whether the BRCA2 mutation had come from her father\u2019s side of the family.<\/p>\n

\u201cI was estranged from my dad\u2019s side of the family, and so I didn\u2019t know much about his family history,\u201d she said.<\/p>\n

She began reaching out to cousins on her dad\u2019s side and learned of one her age who had been diagnosed with stage 3 colon cancer<\/a> just two months before she was.<\/p>\n

Sara Pirzadeh-Miller,<\/a> 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<\/a> 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.<\/p>\n

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<\/a>, breast cancer diagnosed at age 50 or younger, or male breast cancer.<\/p>\n

\u201cA genetic counselor can help determine whether testing is appropriate and which test is most informative,\u201d Pirzadeh-Miller told Healthline.<\/p>\n

BRCA2 mutations are not sufficient alone to change colon cancer lifetime risk or colon cancer screening<\/a> recommendations, said Pirzadeh-Miller.<\/p>\n

\u201cFamily history of colon cancer or other personal risk factors that impact colon cancer risk<\/a> are the determining factors for colon cancer screening planning,\u201d she said. \u201cBRCA2 carriers should follow average-risk colorectal cancer screening recommendations unless their personal or family history independently warrants increased screening recommendations.\u201d<\/p>\n

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.<\/p>\n

\u201cI remember sitting there going, this lady\u2019s crazy. These are healthy tissues; these are healthy organs. Why would I go to that extreme?\u201d she said.<\/p>\n

After researching her options for three months, she decided the surveillance route would cause too much stress.<\/p>\n

\u201cI couldn\u2019t live my life on six-month increments, on pins and needles, and then go for biopsies every time something is questionable,\u201d she said.<\/p>\n

In June 2023, she chose a nipple-sparing double mastectomy<\/a>, which required three separate procedures.<\/p>\n

\u201cIt was a tough year that\u2019s for sure,\u201d said Stachelski.<\/p>\n

She was also able to delay having a total hysterectomy.<\/p>\n

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.<\/p>\n

By participating in the trial, she had her fallopian tubes removed to reduce ovarian cancer risk, while delaying ovary removal.<\/p>\n

\u201cI was about to turn 38 and didn\u2019t want to go into early menopause<\/a> having a total hysterectomy,\u201d Stachelski said. \u201cThe trial gave me an opportunity to do something rather than just sitting and waiting and hoping I don\u2019t get breast or ovarian cancer.\u201d<\/p>\n

She is still enrolled in the trial and checks in with researchers annually. Under current guidelines, she\u2019s expected to have her ovaries removed<\/a> by age 45.<\/p>\n

Seven months after her colon cancer diagnosis, doctors found precancerous tissue in Stachelski\u2019s stomach. They removed the tissue, and she didn\u2019t require more treatment. <\/p>\n

Shortly afterward, she learned that her paternal grandmother had died of stomach cancer, adding to the cancer history she had discovered on her father\u2019s side of the family.<\/p>\n

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<\/a>, since melanoma is a known risk associated with BRCA mutations.<\/p>\n

She is currently in the process of enrolling in a separate clinical trial for pancreatic cancer screening.<\/p>\n

To cope with all that she\u2019s been through, Stachelski leans on talk therapy.<\/p>\n

\u201cIt helps me process everything,\u201d she said. \u201cI experienced a lot of loss, and I\u2019m still mourning the loss of not only body parts, but the finalization of not being able to have more children if we wanted to.\u201d<\/p>\n

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.<\/p>\n

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.<\/p>\n

But the moment that stood out most occurred when she was at a friend\u2019s wedding. A woman she\u2019d gone to high school with, whom she hadn\u2019t seen in years, approached her in tears.<\/p>\n

\u201cShe said, \u2018You have no idea, you saved my life,\u2019\u201d Stachelski said.<\/p>\n

The woman told her that because she was adopted, she didn\u2019t know her family\u2019s health history. After seeing her stories, she was inspired to get a mammogram and discovered she had early stage breast cancer.<\/p>\n

\u201cShe was like, \u2018I would have never known, I would have never seen it, I would have never caught it in time,\u2019\u201d Stachelski said.<\/p>\n

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.<\/p>\n

\u201cIt received, within a day, 110 downloads,\u201d she said.<\/p>\n

The first episode, released in August 2025, launched her podcast BRCA and Beyond, which features medical experts, previvors, and survivors.<\/p>\n

\u201cI cry every time I think about it,\u201d she said. \u201cIt gives meaning to my story and goes beyond just me, my family, my inner circle. It\u2019s an outlet, a resource for other people.\u201d<\/p>\n

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).<\/p>\n

\u201cThe cancer risk took my fertility, but I created my own baby,\u201d said Stachelski.<\/p>\n","protected":false},"excerpt":{"rendered":"Share on PinterestAfter a stage 1 colon cancer diagnosis at 37, Marisa Stachelski (pictured above) learned she had…\n","protected":false},"author":2,"featured_media":768477,"comment_status":"","ping_status":"","sticky":false,"template":"","format":"standard","meta":{"footnotes":""},"categories":[10],"tags":[59,102,56,54,55],"class_list":["post-768476","post","type-post","status-publish","format-standard","has-post-thumbnail","category-health","tag-gb","tag-health","tag-uk","tag-united-kingdom","tag-unitedkingdom"],"_links":{"self":[{"href":"https:\/\/www.newsbeep.com\/uk\/wp-json\/wp\/v2\/posts\/768476","targetHints":{"allow":["GET"]}}],"collection":[{"href":"https:\/\/www.newsbeep.com\/uk\/wp-json\/wp\/v2\/posts"}],"about":[{"href":"https:\/\/www.newsbeep.com\/uk\/wp-json\/wp\/v2\/types\/post"}],"author":[{"embeddable":true,"href":"https:\/\/www.newsbeep.com\/uk\/wp-json\/wp\/v2\/users\/2"}],"replies":[{"embeddable":true,"href":"https:\/\/www.newsbeep.com\/uk\/wp-json\/wp\/v2\/comments?post=768476"}],"version-history":[{"count":0,"href":"https:\/\/www.newsbeep.com\/uk\/wp-json\/wp\/v2\/posts\/768476\/revisions"}],"wp:featuredmedia":[{"embeddable":true,"href":"https:\/\/www.newsbeep.com\/uk\/wp-json\/wp\/v2\/media\/768477"}],"wp:attachment":[{"href":"https:\/\/www.newsbeep.com\/uk\/wp-json\/wp\/v2\/media?parent=768476"}],"wp:term":[{"taxonomy":"category","embeddable":true,"href":"https:\/\/www.newsbeep.com\/uk\/wp-json\/wp\/v2\/categories?post=768476"},{"taxonomy":"post_tag","embeddable":true,"href":"https:\/\/www.newsbeep.com\/uk\/wp-json\/wp\/v2\/tags?post=768476"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}