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September 10, 2025Genome Medicine0 citationsOpen Access

CpG to TpG Mutation Burden in Mismatch Repair-Deficient Cancers

Replication-associated mechanisms contribute to an increased CpG > TpG mutation burden in mismatch repair-deficient cancers

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Analysis reveals increased mutation loads in mismatch repair-deficient colorectal and endometrial cancers, indicating replication errors.

In mismatch repair-deficient cancers, a specific increase in CpG to TpG mutations was observed.
Colorectal cancers showed that dMutSα tumors had higher CpG to TpG mutation burdens than dMutLα tumors.
Whole-genome sequencing of 1803 colorectal and 596 endometrial cancers highlighted unique mutation spectra.
Findings suggest some excess CpG to TpG mutations arise from DNA replication errors rather than deamination.

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Ward et al. (2025) studied this question.

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September 10, 2025Genome Medicine0 citationsOpen Access

Replication-associated mechanisms contribute to an increased CpG > TpG mutation burden in mismatch repair-deficient cancers

Authors

Analysis reveals increased mutation loads in mismatch repair-deficient colorectal and endometrial cancers, indicating replication errors.

In mismatch repair-deficient cancers, a specific increase in CpG to TpG mutations was observed.
Colorectal cancers showed that dMutSα tumors had higher CpG to TpG mutation burdens than dMutLα tumors.
Whole-genome sequencing of 1803 colorectal and 596 endometrial cancers highlighted unique mutation spectra.
Findings suggest some excess CpG to TpG mutations arise from DNA replication errors rather than deamination.

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View Full Paper

Ward et al. (2025) studied this question.

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View Full Paper