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An in-frame deletion mutation in MLH1 drives Lynch syndrome-associated colorectal cancer

11 Jul 2025

Abstract excerpt

Lynch syndrome (LS) is the most common inherited disorder predisposing individuals to colorectal cancer (CRC). It results from germline defects in DNA mismatch repair (MMR) genes, which are critical for maintaining genomic integrity. Here, we demonstrate that the expression of the MMR genes MLH1 and PMS2 are significantly reduced in colon tumor tissues from a proband with CRC, potentially resulting from inherited...

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PMID: 40646476
DOI: 10.1186/s12885-025-14554-6

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