The germline c.1420 C > A (p.Leu474Ile) variant segregates with endometrial cancer, colorectal cancer and colonic polyps demonstrating hypermutation and defective mutational signatures

DDB, AG and KM conceptualised and designed the study. DDB, PG, RW, JEJ, MC, JC, RO, AP, YLC, MJ, CR, IW, FM, EI, RH, AG and KM contributed to acquisition of data, including participant recruitment and acquisition of study materials, laboratory experiments and interpretation of data. KM performed the analysis of the data. KM and DDB drafted the manuscript, and all authors provided critical revision of the manuscript and approved the final submitted manuscript.

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