Journal article

Refinement of the basis and impact of common 11q23.1 variation to the risk of developing colorectal cancer

Alan M Pittman, Emily Webb, Luis Carvajal-Carmona, Kimberley Howarth, Maria Chiara Di Bernardo, Peter Broderick, Sarah Spain, Axel Walther, Amy Price, Kate Sullivan, Philip Twiss, Sarah Fielding, Andrew Rowan, Emma Jaeger, Jayaram Vijayakrishnan, Ian Chandler, Steven Penegar, Mobshra Qureshi, Steven Lubbe, Enric Domingo Show all



The common single-nucleotide polymorphism (SNP) rs3802842 at 11q23.1 has recently been reported to be associated with risk of colorectal cancer (CRC). To examine this association in detail we genotyped rs3802842 in eight independent case-control series comprising a total of 10 638 cases and 10 457 healthy individuals. A significant association between the C allele of rs3802842 and CRC risk was found (per allele OR = 1.17; 95% confidence interval [CI]: 1.12-1.22; P = 1.08 x 10(-12)) with the risk allele more frequent in rectal than colonic disease (P = 0.02). In combination with 8q21, 8q24, 10p14, 11q, 15q13.3 and 18q21 variants, the risk of CRC increases with an increasing numbers of variant..

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Awarded by European Union

Awarded by Fondo de Investigacion Sanitaria

Awarded by Ministerio de Educacion y Ciencia

Awarded by Xunta de Galicia

Awarded by FIS

Awarded by European Commission

Awarded by German Ministry of Education and Research

Awarded by Federal Ministry of Education and Research

Awarded by Dutch Cancer Society

Awarded by Medical Ethical Committee

Awarded by Fondo Investigacion Sanitaria

Awarded by National Health and Medical Research Council (NHMRC)

Awarded by Medical Research Council

Funding Acknowledgements

Cancer Research UK provided principal funding for this study. Institute of Cancer Research: Additional funding was provided by the European Union (CPRB LSHC-CT-2004-503465), the Bobby Moore Fund, CORE and the Thomas Falknor Fund. I. C. was in receipt of a clinical training fellowship from St. George's Hospital Medical School. London Institute: Additional funding was provided by CORE and the Bobby Moore Fund. Barcelona: We are sincerely grateful to all patients participating in this study that were recruited in 25 Spanish hospitals as part of the EPI-COLON project. This work was supported by grants from the Fondo de Investigacion Sanitaria (03/0070, 05/0071 and 05/2031), from the Ministerio de Educacion y Ciencia (SAF 04-07190 and 07-64873), the Asociacion Espanola contra el Cancer, from Merck, Co, from the Xunta de Galicia (PGI-DIT07PXIB9101209PR), from Fundacion Olga Torres (S. C.- B.), and from Fundacion de Investigacion Medica Mutua Madrilena (C. R.- P.). CIBEREHD and CIBERER are funded by the Instituto de Salud Carlos III. S. C.- B. is supported by a contract from the Fondo de Investigacion Sanitaria ( CP 03-0070, Ministerio de Sanidad). Extremadura: Work was supported by grants FIS 051056 and RD07/0064/0016 from Instituto de Salud Carlos III, Madrid, Spain. Finland: This work was supported by grants from Academy of Finland ( Finnish Centre of Excellence Program 2006 - 2011), the Finnish Cancer Society, the Sigrid Juselius Foundation and the European Commission 9LSHG-CT2004-512142). Heidelberg: Supported by Deutsche Krebshilfe and the Swedish Cancer Society. Kiel: This study was supported by the German Ministry of Education and Research through the National Genome Research Network through the POPGEN biobank project ( 01GS0426, 01GR0468) and the Medical Faculty, Kiel. The SHIP recuitment project is funded by the Federal Ministry of Education and Research ( ZZ9603), the Ministry of Cultural Affairs as well as the Social Ministry of the Federal State of Mecklenburg-West Pomerania. Leiden: DFCCS was supported by Dutch Cancer Society grant UL2005-3247 and approved by the local Medical Ethical Committee ( protocol P01.019); samples were handled according to Code Proper Secondary Use of Human Tissue by the Dutch Federation of Medical Sciences ( Madrid: Work was supported by the Fondo Investigacion Sanitaria (PI070316 and RD06/0020/0021). Melbourne: The Melbourne Collaborative Cohort Study is supported by National Health and Medical Research Council (NHMRC) grants 209057, 251533 and 396414 and receives core funding and infrastructure support from the The Cancer Council Victoria. J. L. H. is a NHMRC Australia Fellow and M. C. S. is a NHMRC Senior Research Fellow. We would like to acknowledge Mr Fabrice Odefrey for performing the genotyping. Prague: Supported by the grant GACR310/07/1430.