Then Genetic Testing Revealed a BRCA2 Mutation
A woman diagnosed with stage 1 colon cancer discovered she carried the BRCA2 gene mutation after undergoing genetic testing. This finding highlights the importance of genetic screening for patients even after successful initial cancer treatment.
Why it matters
It underscores the critical role of genetic testing in identifying hereditary cancer risks and informing long-term preventative healthcare strategies.
“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.
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