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; Annabel Goodwin; Khalid Mahmood