- Somatic and germline mutations in DNA polymerase linked to cancer.
- 31 pathogenic missense variants identified.
- Poled and Pold1 variants lead to hypermutated tumors.
- Endometrial cancer most prevalent among proofreading-deficient tumors.
- Median diagnosis ages vary: 42 for colorectal, 50 for endometrial.
- Variant-specific risks noted for early-onset cancers.
- Limitations in sample quality and data completeness acknowledged.
- All colorectal cancers in the study were adenocarcinomas.
Source: Modern Pathology