Article
The germline POLD1 c.1420 C > A (p.Leu474Ile) variant segregates with endometrial cancer, colorectal cancer and colonic polyps demonstrating hypermutation and defective POLD1 mutational signatures.
Familial cancer - 10 Nov 2025
Buchanan Daniel D, Georgeson Peter, Walker Romy, Joo Jihoon E, Clendenning Mark, Como Julia, O'Keeffe Ryan, Prisc Alysha, Chu Yen Lin, Jenkins Mark A, Rosty Christophe, Winship Ingrid M, Macrae Finlay A, Ip Emilia, Harris Rebecca, Goodwin Annabel, Mahmood Khalid
Abstract excerpt
Germline pathogenic variants within the highly conserved exonuclease domain of the POLD1 gene predisposes to colorectal (CRC) and endometrial (EC) cancers. Tumours with POLD1-deficiency demonstrate unique genomic features including hypermutation and tumour mutational signatures (TMS) SBS10c, SBS10d and SBS20. The classification of variants within POLD1 remains challenging. The utility of incorporating tumour...
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