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...

詳細記述

書誌詳細
主要な著者: 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
フォーマット: Journal article
言語:English
出版事項: 2013