Please use this identifier to cite or link to this item:
http://hdl.handle.net/2445/122275
Full metadata record
DC Field | Value | Language |
---|---|---|
dc.contributor.author | Abulí, Anna | - |
dc.contributor.author | Bujanda, Luis | - |
dc.contributor.author | Muñoz, Jenifer | - |
dc.contributor.author | Buch, Stephan | - |
dc.contributor.author | Schafmayer, Clemens | - |
dc.contributor.author | Maiorana, Maria Valeria | - |
dc.contributor.author | Veneroni, Silvia | - |
dc.contributor.author | Van Wezel, Tom | - |
dc.contributor.author | Liu, Tao | - |
dc.contributor.author | Westers, Helga | - |
dc.contributor.author | Esteban-Jurado, Clara | - |
dc.contributor.author | Ocaña, Teresa | - |
dc.contributor.author | Piqué, J. M. (Piqué Badía) | - |
dc.contributor.author | Andreu, Montserrat | - |
dc.contributor.author | Jover, Rodrigo | - |
dc.contributor.author | Carracedo Álvarez, Ángel | - |
dc.contributor.author | Llor, Xavier | - |
dc.contributor.author | Castells Garangou, Antoni | - |
dc.contributor.author | Dunlop, Malcolm | - |
dc.contributor.author | Hofstra, Robert | - |
dc.contributor.author | Lindblom, Annika | - |
dc.contributor.author | Xicola, Rosa | - |
dc.contributor.author | Wijnen, Juul | - |
dc.contributor.author | Peterlongo, Paolo | - |
dc.contributor.author | Hampe, Jochen | - |
dc.contributor.author | Ruiz-Ponte, Clara | - |
dc.contributor.author | Castellví Bel, Sergi | - |
dc.date.accessioned | 2018-05-10T13:24:22Z | - |
dc.date.available | 2018-05-10T13:24:22Z | - |
dc.date.issued | 2014-04-17 | - |
dc.identifier.issn | 1932-6203 | - |
dc.identifier.uri | http://hdl.handle.net/2445/122275 | - |
dc.description.abstract | Colorectal cancer is one of the most frequent neoplasms and an important cause of mortality in the developed world. Mendelian syndromes account for about 5% of the total burden of CRC, being Lynch syndrome and familial adenomatous polyposis the most common forms. Lynch syndrome tumors develop mainly as a consequence of defective DNA mismatch repair associated with germline mutations in MLH1, MSH2, MSH6 and PMS2. A significant proportion of variants identified by screening these genes correspond to missense or noncoding changes without a clear pathogenic consequence, and they are designated as "variants of uncertain significance", being the c.1852_1853delinsGC (p.K618A) variant in the MLH1 gene a clear example. The implication of this variant as a low-penetrance risk variant for CRC was assessed in the present study by performing a case-control study within a large cohort from the COGENT consortium-COST Action BM1206 including 18,723 individuals (8,055 colorectal cancer cases and 10,668 controls) and a case-only genotype-phenotype correlation with several clinical and pathological characteristics restricted to the Epicolon cohort. Our results showed no involvement of this variant as a low-penetrance variant for colorectal cancer genetic susceptibility and no association with any clinical and pathological characteristics including family history for this neoplasm or Lynch syndrome. | - |
dc.format.extent | 6 p. | - |
dc.format.mimetype | application/pdf | - |
dc.language.iso | eng | - |
dc.publisher | Public Library of Science (PLoS) | - |
dc.relation.isformatof | Reproducció del document publicat a: https://doi.org/10.1371/journal.pone.0095022 | - |
dc.relation.ispartof | PLoS One, 2014, vol. 9, num. 4, p. e95022 | - |
dc.relation.uri | https://doi.org/10.1371/journal.pone.0095022 | - |
dc.rights | cc-by (c) Abulí, Anna et al., 2014 | - |
dc.rights.uri | http://creativecommons.org/licenses/by/3.0/es | - |
dc.source | Articles publicats en revistes (Medicina) | - |
dc.subject.classification | Càncer colorectal | - |
dc.subject.classification | Genètica molecular | - |
dc.subject.classification | Malalties hereditàries | - |
dc.subject.classification | Epidemiologia | - |
dc.subject.other | Colorectal cancer | - |
dc.subject.other | Molecular genetics | - |
dc.subject.other | Genetic diseases | - |
dc.subject.other | Epidemiology | - |
dc.title | The MLH1 c.1852_1853delinsGC (p.K618A) variant in colorectal cancer: genetic association study in 18,723 individuals. | - |
dc.type | info:eu-repo/semantics/article | - |
dc.type | info:eu-repo/semantics/publishedVersion | - |
dc.identifier.idgrec | 644876 | - |
dc.date.updated | 2018-05-10T11:48:26Z | - |
dc.relation.projectID | info:eu-repo/grantAgreement/EC/FP7/223678/EU//CHIBCHA | - |
dc.rights.accessRights | info:eu-repo/semantics/openAccess | - |
dc.identifier.pmid | 24743384 | - |
Appears in Collections: | Articles publicats en revistes (Medicina) Articles publicats en revistes (IDIBAPS: Institut d'investigacions Biomèdiques August Pi i Sunyer) |
Files in This Item:
File | Description | Size | Format | |
---|---|---|---|---|
644876.pdf | 554.42 kB | Adobe PDF | View/Open |
This item is licensed under a Creative Commons License