Familial cancerHumansFemaleGerm-Line MutationEndometrial NeoplasmsColorectal Neoplasms
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.
Daniel D Buchanan, Peter Georgeson, Romy Walker, Jihoon E Joo, Mark Clendenning, Julia Como, Ryan O'Keeffe, Alysha Prisc, Yen Lin Chu, Mark A Jenkins, Christophe Rosty, Ingrid M Winship, Finlay A Macrae, Emilia Ip, Rebecca Harris
Published: 202510.1007/s10689-025-00506-3
Abstract
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…
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