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http://hdl.handle.net/2445/147246
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DC Field | Value | Language |
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dc.contributor.author | Theodoratou, Evropi | - |
dc.contributor.author | Campbell, Harry | - |
dc.contributor.author | Tenesa, Albert | - |
dc.contributor.author | Houlston, Richard S. | - |
dc.contributor.author | Webb Youdale, Susan | - |
dc.contributor.author | Lubbe, Steven | - |
dc.contributor.author | Broderick, Peter | - |
dc.contributor.author | Gallinger, Steven | - |
dc.contributor.author | Croitoru, Marina E. | - |
dc.contributor.author | Jenkins, Mark A. | - |
dc.contributor.author | Win, Aung K. | - |
dc.contributor.author | Cleary, Sean | - |
dc.contributor.author | Koessler, Thibaud | - |
dc.contributor.author | Pharoah, Paul D. P. | - |
dc.contributor.author | Küry, Sébastien | - |
dc.contributor.author | Bézieau, Stéphane | - |
dc.contributor.author | Buecher, Bruno | - |
dc.contributor.author | Ellis, Nathan A. | - |
dc.contributor.author | Peterlongo, Paolo | - |
dc.contributor.author | Offit, Kenneth | - |
dc.contributor.author | Aaltonen, Lauri A. | - |
dc.contributor.author | Enholm, Susa | - |
dc.contributor.author | Lindblom, Annika | - |
dc.contributor.author | Zhou, X.L. | - |
dc.contributor.author | Tomlinson, Ian P. | - |
dc.contributor.author | Moreno Aguado, Víctor | - |
dc.contributor.author | Blanco Guillermo, Ignacio | - |
dc.contributor.author | Capellá, G. (Gabriel) | - |
dc.contributor.author | Barnetson, Rebecca | - |
dc.contributor.author | Porteous, Mary E. | - |
dc.contributor.author | Dunlop, Malcolm | - |
dc.contributor.author | Farrington, Susan M. | - |
dc.date.accessioned | 2020-01-08T16:07:59Z | - |
dc.date.available | 2020-01-08T16:07:59Z | - |
dc.date.issued | 2010-12-07 | - |
dc.identifier.issn | 0007-0920 | - |
dc.identifier.uri | http://hdl.handle.net/2445/147246 | - |
dc.description.abstract | Background: defective DNA repair has a causal role in hereditary colorectal cancer (CRC). Defects in the base excision repair gene MUTYH are responsible for MUTYH-associated polyposis and CRC predisposition as an autosomal recessive trait. Numerous reports have suggested MUTYH mono-allelic variants to be low penetrance risk alleles. We report a large collaborative meta-analysis to assess and refine CRC risk estimates associated with bi-allelic and mono-allelic MUTYH variants and investigate age and sex influence on risk. Methods: MUTYH genotype data were included from 20 565 cases and 15 524 controls. Three logistic regression models were tested: a crude model; adjusted for age and sex; adjusted for age, sex and study. Results: all three models produced very similar results. MUTYH bi-allelic carriers demonstrated a 28-fold increase in risk (95% confidence interval (CI): 6.95-115). Significant bi-allelic effects were also observed for G396D and Y179C/G396D compound heterozygotes and a marginal mono-allelic effect for variant Y179C (odds ratio (OR)=1.34; 95% CI: 1.00-1.80). A pooled meta-analysis of all published and unpublished datasets submitted showed bi-allelic effects for MUTYH, G396D and Y179C (OR=10.8, 95% CI: 5.02-23.2; OR=6.47, 95% CI: 2.33-18.0; OR=3.35, 95% CI: 1.14-9.89) and marginal mono-allelic effect for variants MUTYH (OR=1.16, 95% CI: 1.00-1.34) and Y179C alone (OR=1.34, 95% CI: 1.01-1.77). Conclusions: overall, this large study refines estimates of disease risk associated with mono-allelic and bi-allelic MUTYH carriers. | - |
dc.format.extent | 10 p. | - |
dc.format.mimetype | application/pdf | - |
dc.language.iso | eng | - |
dc.publisher | Cancer Research UK | - |
dc.relation.isformatof | Versió postprint del document publicat a: https://doi.org/10.1038/sj.bjc.6605966 | - |
dc.relation.ispartof | British Journal of Cancer, 2010, vol. 103, num. 12, p. 1875-1884 | - |
dc.relation.uri | https://doi.org/10.1038/sj.bjc.6605966 | - |
dc.rights | (c) Theodoratou, Evropi et al., 2010 | - |
dc.source | Articles publicats en revistes (Ciències Clíniques) | - |
dc.subject.classification | Càncer colorectal | - |
dc.subject.classification | Genètica | - |
dc.subject.classification | ADN | - |
dc.subject.other | Colorectal cancer | - |
dc.subject.other | Genetics | - |
dc.subject.other | DNA | - |
dc.title | A large-scale meta-analysis to refine colorectal cancer risk estimates associated with MUTYH variants | - |
dc.type | info:eu-repo/semantics/article | - |
dc.type | info:eu-repo/semantics/acceptedVersion | - |
dc.identifier.idgrec | 593139 | - |
dc.date.updated | 2020-01-08T16:08:00Z | - |
dc.rights.accessRights | info:eu-repo/semantics/openAccess | - |
dc.identifier.pmid | 21063410 | - |
Appears in Collections: | Articles publicats en revistes (Ciències Clíniques) Articles publicats en revistes (Institut d'lnvestigació Biomèdica de Bellvitge (IDIBELL)) |
Files in This Item:
File | Description | Size | Format | |
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593139.pdf | 437.6 kB | Adobe PDF | View/Open |
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