Article
Replication-associated mechanisms contribute to an increased CpG > TpG mutation burden in mismatch repair-deficient cancers.
Genome medicine - 25 Aug 2025
Ward Joseph C, Soriano Ignacio, Thorn Steve, Fernández-Tajes Juan, Sherwood Kitty, Gül Güler, Scheffers Joost, Frangou Anna, Kinnersley Ben, Kafetzopoulos Ioannis, Sproul Duncan, Galavotti Sara, Palles Claire, Gruber Andreas J, Church David N, Tomlinson Ian
Abstract excerpt
BACKGROUND: Single base substitution (SBS) mutations, particularly C > T and T > C, are increased owing to unrepaired DNA replication errors in mismatch repair-deficient (MMRd) cancers. Excess CpG > TpG mutations have been reported in MMRd cancers defective in mismatch detection (dMutSα), but not in mismatch correction (dMutLα). Somatic CpG > TpG mutations conventionally result from unrepaired spontaneous...
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