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Compound heterozygous MSH3 germline variants and associated tumor somatic DNA mismatch repair dysfunction

19 Jan 2024

Abstract excerpt

We describe here an individual from a fourth family with germline compound heterozygous MSH3 germline variants and its observed biological consequences. The patient was initially diagnosed with invasive moderately-differentiated adenocarcinoma of the colon at the age of 43. Germline multigene panel testing revealed a pathogenic variant MSH3 c.2436-1 G > A and a variant of (initial) uncertain significance MSH3...

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PMID: 38243056
DOI: 10.1038/s41698-024-00511-2

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