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Unraveling mutagenic processes influencing the tumor mutational patterns of individuals with constitutional mismatch repair deficiency

14 May 2025

Abstract excerpt

Constitutional mismatch repair deficiency (CMMRD), caused by bi-allelic germline variants in mismatch repair (MMR) genes, is associated with high cancer incidence early in life. A better understanding of mutational processes driving sequential CMMRD tumors can advance optimal treatment. Here, we describe a genomic characterization on a representative collection of CMMRD-associated tumors consisting of 41 tumors...

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Cancer Genomics and Diagnostics
Genetic factors in colorectal cancer
RNA Research and Splicing

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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PMID: 40368937
DOI: 10.1038/s41467-025-59775-2

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