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

Claire Palles; Jean-baptiste Cazier; Kimberley M Howarth; Enric Domingo; Angela M Jones; Peter Broderick; Zoe Kemp; Sarah L Spain; Estrella Guarino; Israel Salguero; Amy Sherborne; Daniel Chubb; Luis G Carvajal-carmona; Yusanne Ma; Kulvinder Kaur; Sara Dobbins; Ella Barclay; Maggie Gorman; Lynn Martin; Michal B Kovac; Sean Humphray; Anneke Lucassen; Christopher C Holmes; David Bentley; Peter Donnelly; Jenny Taylor; Christos Petridis; Rebecca Roylance; Elinor J Sawyer; David J Kerr; Susan Clark; Jonathan Grimes; Stephen E Kearsey; Huw J W Thomas; Gilean Mcvean; Richard S Houlston; Ian Tomlinson

doi:10.1038/ng.2503

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

Claire Palles
, Jean-baptiste Cazier
, Kimberley M Howarth
, Enric Domingo
, Angela M Jones
, Peter Broderick
, Zoe Kemp
, Sarah L Spain
, Estrella Guarino
, Israel Salguero
, Amy Sherborne
, Daniel Chubb
, Luis G Carvajal-carmona
, Yusanne Ma
, Kulvinder Kaur
, Sara Dobbins
, Ella Barclay
, Maggie Gorman
, Lynn Martin
, Michal B Kovac

Sean Humphray, Anneke Lucassen, Christopher C Holmes, David Bentley, Peter Donnelly, Jenny Taylor, Christos Petridis, Rebecca Roylance, Elinor J Sawyer, David J Kerr, Susan Clark, Jonathan Grimes, Stephen E Kearsey, Huw J W Thomas, Gilean Mcvean, Richard S Houlston, Ian Tomlinson

Research output: Contribution to journal › Article › peer-review

Original language	English
Pages (from-to)	136-144
Journal	Nature Genetics
Volume	45
Issue number	2
DOIs	https://doi.org/10.1038/ng.2503
Publication status	Published - 1 Feb 2013

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10.1038/ng.2503

http://www.nature.com/articles/ng.2503

Cite this

Palles, C., Cazier, J., Howarth, K. M., Domingo, E., Jones, A. M., Broderick, P., Kemp, Z., Spain, S. L., Guarino, E., Salguero, I., Sherborne, A., Chubb, D., Carvajal-carmona, L. G., Ma, Y., Kaur, K., Dobbins, S., Barclay, E., Gorman, M., Martin, L., ... Tomlinson, I. (2013). Germline mutations affecting the proofreading domains of POLE and POLD1 predispose to colorectal adenomas and carcinomas. Nature Genetics, 45(2), 136-144. https://doi.org/10.1038/ng.2503

@article{76c64e6ae51845caba866f23634b39b1,

title = "Germline mutations affecting the proofreading domains of POLE and POLD1 predispose to colorectal adenomas and carcinomas",

author = "Claire Palles and Jean-baptiste Cazier and Howarth, \{Kimberley M\} and Enric Domingo and Jones, \{Angela M\} and Peter Broderick and Zoe Kemp and Spain, \{Sarah L\} and Estrella Guarino and Israel Salguero and Amy Sherborne and Daniel Chubb and Carvajal-carmona, \{Luis G\} and Yusanne Ma and Kulvinder Kaur and Sara Dobbins and Ella Barclay and Maggie Gorman and Lynn Martin and Kovac, \{Michal B\} and Sean Humphray and Anneke Lucassen and Holmes, \{Christopher C\} and David Bentley and Peter Donnelly and Jenny Taylor and Christos Petridis and Rebecca Roylance and Sawyer, \{Elinor J\} and Kerr, \{David J\} and Susan Clark and Jonathan Grimes and Kearsey, \{Stephen E\} and Thomas, \{Huw J W\} and Gilean Mcvean and Houlston, \{Richard S\} and Ian Tomlinson",

year = "2013",

month = feb,

day = "1",

doi = "10.1038/ng.2503",

language = "English",

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journal = "Nature Genetics",

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Palles, C, Cazier, J, Howarth, KM, Domingo, E, Jones, AM, Broderick, P, Kemp, Z, Spain, SL, Guarino, E, Salguero, I, Sherborne, A, Chubb, D, Carvajal-carmona, LG, Ma, Y, Kaur, K, Dobbins, S, Barclay, E, Gorman, M, Martin, L, Kovac, MB, Humphray, S, Lucassen, A, Holmes, CC, Bentley, D, Donnelly, P, Taylor, J, Petridis, C, Roylance, R, Sawyer, EJ, Kerr, DJ, Clark, S, Grimes, J, Kearsey, SE, Thomas, HJW, Mcvean, G, Houlston, RS & Tomlinson, I 2013, 'Germline mutations affecting the proofreading domains of POLE and POLD1 predispose to colorectal adenomas and carcinomas', Nature Genetics, vol. 45, no. 2, pp. 136-144. https://doi.org/10.1038/ng.2503

TY - JOUR

T1 - Germline mutations affecting the proofreading domains of POLE and POLD1 predispose to colorectal adenomas and carcinomas

AU - Palles, Claire

AU - Cazier, Jean-baptiste

AU - Howarth, Kimberley M

AU - Domingo, Enric

AU - Jones, Angela M

AU - Broderick, Peter

AU - Kemp, Zoe

AU - Spain, Sarah L

AU - Guarino, Estrella

AU - Salguero, Israel

AU - Sherborne, Amy

AU - Chubb, Daniel

AU - Carvajal-carmona, Luis G

AU - Ma, Yusanne

AU - Kaur, Kulvinder

AU - Dobbins, Sara

AU - Barclay, Ella

AU - Gorman, Maggie

AU - Martin, Lynn

AU - Kovac, Michal B

AU - Humphray, Sean

AU - Lucassen, Anneke

AU - Holmes, Christopher C

AU - Bentley, David

AU - Donnelly, Peter

AU - Taylor, Jenny

AU - Petridis, Christos

AU - Roylance, Rebecca

AU - Sawyer, Elinor J

AU - Kerr, David J

AU - Clark, Susan

AU - Grimes, Jonathan

AU - Kearsey, Stephen E

AU - Thomas, Huw J W

AU - Mcvean, Gilean

AU - Houlston, Richard S

AU - Tomlinson, Ian

PY - 2013/2/1

Y1 - 2013/2/1

U2 - 10.1038/ng.2503

DO - 10.1038/ng.2503

M3 - Article

SN - 1061-4036

VL - 45

SP - 136

EP - 144

JO - Nature Genetics

JF - Nature Genetics

IS - 2

ER -