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dc.contributor.author | Abulí, Anna |
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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 | 2018-05-10T13:24:22Z |
dc.date | 2018-05-10T13:24:22Z |
dc.date | 2014-04-17 |
dc.date | 2018-05-10T11:48:26Z |
dc.identifier | 1932-6203 |
dc.identifier | 644876 |
dc.identifier | 24743384 |
dc.identifier.uri | http://hdl.handle.net/2445/122275 |
dc.description | 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 | 6 p. |
dc.format | application/pdf |
dc.language | eng |
dc.publisher | Public Library of Science (PLoS) |
dc.relation | Reproducció del document publicat a: https://doi.org/10.1371/journal.pone.0095022 |
dc.relation | PLoS One, 2014, vol. 9, num. 4, p. e95022 |
dc.relation | https://doi.org/10.1371/journal.pone.0095022 |
dc.relation | info:eu-repo/grantAgreement/EC/FP7/223678/EU//CHIBCHA |
dc.rights | cc-by (c) Abulí, Anna et al., 2014 |
dc.rights | http://creativecommons.org/licenses/by/3.0/es |
dc.rights | info:eu-repo/semantics/openAccess |
dc.subject | Càncer colorectal |
dc.subject | Genètica molecular |
dc.subject | Malalties hereditàries |
dc.subject | Epidemiologia |
dc.subject | Colorectal cancer |
dc.subject | Molecular genetics |
dc.subject | Genetic diseases |
dc.subject | 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 |