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Science Saturday: Mayo Clinic patient grateful after genetic test leads to unexpected, early detection of colon cancer
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Alejandro Mirazo (right) with his family. (Photo courtesy of the Mirazo family)
Alejandro Mirazo, 56, never imagined his genetic test results would reveal a hereditary link to cancer, or that his findings would potentially save his life. He had participated in a preemptive DNA research sequencing study for Mayo Clinic's Center for Individualized Medicine in fall 2021 solely to contribute to medical research. As a Mexican American, he also wanted to add diversity to Mayo Clinic's genomic dataset.
"I wanted to provide data to help other people and I thought this was a good way of doing my part," says Alejandro, who directs a manufacturing business in Arizona, where he lives with his wife and four children.
But his genetic test results revealed a mutation on his PMS2 gene, also known as Lynch syndrome. The inherited condition raises a person's lifetime risk of developing colon, uterine, stomach, small bowel, kidney and other cancers.
"I was shocked but very grateful," Alejandro recalls.
Alejandro's team of genetic counselors and physicians moved quickly to educate him on Lynch syndrome and help him schedule a colonoscopy.
"And that's when my doctor found a 30-millimiter cancerous tumor in my colon," Alejandro says. "Thankfully, it was caught early. If I had not received genetic testing, at some point, I would have noticed symptoms. But by then, it probably would have been too late."
Read the rest of the article on the Advancing the Science blog.
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Other Mayo Clinic medical research websites:
- Research at Mayo Clinic
- Discovery’s Edge
- Mayo Clinic Laboratories
- Forefront
- Center for Individualized Medicine
- Center for Regenerative Biotherapeutics
- Center for the Science of Health Care Delivery
- Mayo Clinic Cancer Center
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