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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Main Authors: Palles, Claire (Author), Cazier, Jean-Baptiste (Author), Howarth, Kimberley M. (Author), Domingo, Enric (Author), Jones, Angela M. (Author), Broderick, Peter (Author), Kemp, Zoe (Author), Spain, Sarah L. (Author), Guarino, Estrella (Author), Guarino Almeida, Estrella (Author), Salguero, Israel (Author), Sherborne, Amy (Author), Chubb, Daniel (Author), Carvajal-Carmona, Luis G. (Author), Ma, Yusanne (Author), Kaur, Kulvinder (Author), Dobbins, Sara (Author), Barclay, Ella (Author), Gorman, Maggie (Author), Martin, Lynn (Author), Kovac, Michal B. (Author), Humphray, Sean (Author), Lucassen, Anneke (Author), Holmes, Christopher C. (Author), Bentley, David (Author), Donnelly, Peter (Author), Taylor, Jenny (Author), Petridis, Christos (Author), Roylance, Rebecca (Author), Sawyer, Elinor J. (Author), Kerr, David J. (Author), Clark, Susan (Author), Grimes, Jonathan (Author), Kearsey, Stephen E. (Author), Thomas, Huw J.W (Author), McVean, Gilean (Author), Houlston, Richard S. (Author), Tomlinson, Ian (Author)
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Language:English
Published: 2012-12-23.
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