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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Detalles Bibliográficos
Autores principales: 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: Online Artículo Texto
Lenguaje:English
Publicado: 2012
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3785128/
https://www.ncbi.nlm.nih.gov/pubmed/23263490
http://dx.doi.org/10.1038/ng.2503

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3785128/
https://www.ncbi.nlm.nih.gov/pubmed/23263490
http://dx.doi.org/10.1038/ng.2503

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