| http://purl.uniprot.org/citations/24743384 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/24743384 | http://www.w3.org/2000/01/rdf-schema#comment | "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."xsd:string |
| http://purl.uniprot.org/citations/24743384 | http://purl.org/dc/terms/identifier | "doi:10.1371/journal.pone.0095022"xsd:string |
| http://purl.uniprot.org/citations/24743384 | http://purl.uniprot.org/core/author | "Liu T."xsd:string |
| http://purl.uniprot.org/citations/24743384 | http://purl.uniprot.org/core/author | "Hampe J."xsd:string |
| http://purl.uniprot.org/citations/24743384 | http://purl.uniprot.org/core/author | "Carracedo A."xsd:string |
| http://purl.uniprot.org/citations/24743384 | http://purl.uniprot.org/core/author | "Buch S."xsd:string |
| http://purl.uniprot.org/citations/24743384 | http://purl.uniprot.org/core/author | "Schafmayer C."xsd:string |
| http://purl.uniprot.org/citations/24743384 | http://purl.uniprot.org/core/author | "Jover R."xsd:string |
| http://purl.uniprot.org/citations/24743384 | http://purl.uniprot.org/core/author | "Munoz J."xsd:string |
| http://purl.uniprot.org/citations/24743384 | http://purl.uniprot.org/core/author | "Castellvi-Bel S."xsd:string |
| http://purl.uniprot.org/citations/24743384 | http://purl.uniprot.org/core/author | "Lindblom A."xsd:string |
| http://purl.uniprot.org/citations/24743384 | http://purl.uniprot.org/core/author | "Castells A."xsd:string |
| http://purl.uniprot.org/citations/24743384 | http://purl.uniprot.org/core/author | "Dunlop M."xsd:string |
| http://purl.uniprot.org/citations/24743384 | http://purl.uniprot.org/core/author | "van Wezel T."xsd:string |
| http://purl.uniprot.org/citations/24743384 | http://purl.uniprot.org/core/author | "Westers H."xsd:string |
| http://purl.uniprot.org/citations/24743384 | http://purl.uniprot.org/core/author | "Hofstra R."xsd:string |
| http://purl.uniprot.org/citations/24743384 | http://purl.uniprot.org/core/author | "Wijnen J."xsd:string |
| http://purl.uniprot.org/citations/24743384 | http://purl.uniprot.org/core/author | "Peterlongo P."xsd:string |
| http://purl.uniprot.org/citations/24743384 | http://purl.uniprot.org/core/author | "Pique J.M."xsd:string |
| http://purl.uniprot.org/citations/24743384 | http://purl.uniprot.org/core/author | "Llor X."xsd:string |
| http://purl.uniprot.org/citations/24743384 | http://purl.uniprot.org/core/author | "Ruiz-Ponte C."xsd:string |
| http://purl.uniprot.org/citations/24743384 | http://purl.uniprot.org/core/author | "Andreu M."xsd:string |
| http://purl.uniprot.org/citations/24743384 | http://purl.uniprot.org/core/author | "Bujanda L."xsd:string |
| http://purl.uniprot.org/citations/24743384 | http://purl.uniprot.org/core/author | "Xicola R.M."xsd:string |