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Germline mutations in the proof-reading 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 PO...

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Detalhes bibliográficos
Main Authors: Palles, Claire, Cazier, Jean-Baptiste, Howarth, Kimberley M, Domingo, Enric, Jones, Angela M., Broderick, Peter, Kemp, Zoe, Spain, Sarah L, Almeida, Estrella Guarino, Salguero, Israel, Sherborne, Amy, Chubb, Daniel, Carvajal-Carmona, Luis G, Ma, Yusanne, Kaur, Kulvinder, Dobbins, Sara, Barclay, Ella, Gorman, Maggie, Martin, Lynn, Kovac, Michal B, Humphray, Sean, Lucassen, Anneke, Holmes, Christopher, Bentley, David, Donnelly, Peter, Taylor, Jenny, Petridis, Christos, Roylance, Rebecca, Sawyer, Elinor J, Kerr, David J., Clark, Susan, Grimes, Jonathan, Kearsey, Stephen E, Thomas, Huw JW, McVean, Gilean, Houlston, Richard S, Tomlinson, Ian
Formato: Artigo
Idioma:Inglês
Publicado em: 2012
Assuntos:
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC3785128/
https://ncbi.nlm.nih.gov/pubmed/23263490
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/ng.2503
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