A recent study in Gastroenterology highlights the potential of DNA sequencing in understanding colorectal polyposis when standard germline testing fails to provide answers. Researchers analyzed 299 colorectal tumors, focusing on adenomatous and serrated polyps. Findings revealed prevalent APC mutations and BRAF alterations critical for tumorigenesis. Notably, 19% of patients exhibited APC mosaicism, which is often overlooked in genetic tests, suggesting a need for somatic profiling to enhance hereditary risk evaluation and guide genetic counseling.
1. Study analyzed DNA changes in colorectal polyps and cancers. 2. Focus on diagnosing adenomatous vs. serrated polyposis. 3. 299 colorectal tumors from 169 patients were sequenced. 4. APC mutations found in 73% of adenomas and BRAF mutations in serrated polyps. 5. 19% of patients showed confirmed APC mosaicism. 6. Mosaic variants often missed in standard blood tests. 7. Study highlights the role of somatic testing in genetic counseling.
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