Germline mutations affecting the proofreading domains of POLE and POLD1 predispose to colorectal adenomas and carcinomas.

Germline mutations affecting the proofreading domains of POLE and POLD1 predispose to colorectal adenomas and carcinomas.

Many individuals with multiple or large colorectal adenomas or early-onset colorectal cancer (CRC) have no detectable germline mutations in the known cancer predisposition genes. Using whole-genome sequencing, supplemented by linkage and association analysis, we identified specific heterozygous POLE...

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Bibliographic Details
Main Authors: Palles, C, Cazier, J, Howarth, K, Domingo, E, Jones, A, Broderick, P, Kemp, Z, Spain, S, Guarino, E, Guarino Almeida, E, Salguero, I, Sherborne, A, Chubb, D, Carvajal-Carmona, L, Ma, Y, Kaur, K, Dobbins, S, Barclay, E, Gorman, M, Martin, L, Kovac, M, Humphray, S, Lucassen, A, Holmes, C, Bentley, D
Format: Journal article
Language:English
Published: 2013

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