Work

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

Year: 2025

Type: article

Source: Familial Cancer

DOI: 10.1007/s10689-025-00506-3

Authors: 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, Annabel Goodwin, Khalid Mahmood

Institutions: The Royal Melbourne Hospital, The University of Melbourne, Victorian Comprehensive Cancer Centre, The University of Queensland, Envoi Specialist Pathologists, Liverpool Hospital, Western Sydney University, The University of Sydney, Royal Prince Alfred Hospital, Melbourne Bioinformatics

Language: English

Topic: Genetic factors in colorectal cancer

Subfield: Pathology and Forensic Medicine

Field: Medicine

Domain: Health Sciences

SDG: Good health and well-being

Open Access status: closed

Funders: University of Melbourne, National Health and Medical Research Council

Awards: Precision Prevention of Colorectal Cancer: understanding tumourigenesis in high risk people to optimise prevention, Clinical application of tumour mutational signatures for precision prevention of colorectal cancer

OpenAlex ID: W4416062040

FWCI: 0.659

Cites: 13

Cited by: 1

Related to: 10