Por favor, use este identificador para citar o enlazar a este item:
http://hdl.handle.net/10261/116930
COMPARTIR / EXPORTAR:
SHARE CORE BASE | |
Visualizar otros formatos: MARC | Dublin Core | RDF | ORE | MODS | METS | DIDL | DATACITE | |
Campo DC | Valor | Lengua/Idioma |
---|---|---|
dc.contributor.author | Infante, Mar | - |
dc.contributor.author | Durán, Mercedes | - |
dc.contributor.author | Blanco, Ignacio | - |
dc.contributor.author | Valle, Laura | - |
dc.date.accessioned | 2015-06-22T08:18:53Z | - |
dc.date.available | 2015-06-22T08:18:53Z | - |
dc.date.issued | 2014 | - |
dc.identifier | doi: 10.1002/humu.22454 | - |
dc.identifier | issn: 1059-7794 | - |
dc.identifier | e-issn: 1098-1004 | - |
dc.identifier.citation | Human Mutation 35(1): 50-52 (2014) | - |
dc.identifier.uri | http://hdl.handle.net/10261/116930 | - |
dc.description | et al. | - |
dc.description.abstract | Previous evidence indicates that mutations in the GALNT12 gene might cause a fraction of the unexplained familial colorectal cancer (CRC) cases: GALNT12 is located in 9q22-33, in close proximity to a CRC linkage peak; and germline missense variants that reduce the enzymatic activity of the protein have been identified in CRC patients, some of them with familial CRC history. We hypothesized that mutations in GALNT12 might explain part of the high-risk families grouped as familial CRC type X (fCRC-X), that is, Amsterdam-positive families with mismatch repair proficient tumors. We sequenced the coding regions of the gene in 103 probands of fCRC-X families, finding no functionally relevant mutations. Our results rule out GALNT12 as a major high CRC susceptibility gene. Additional studies are required to provide further evidence about its role as a moderate/low susceptibility gene in familial aggregation of cancer. © 2013 WILEY PERIODICALS, INC. | - |
dc.description.sponsorship | Contract grant sponsors: Spanish Ministry of Economy (State Secretariat for Research, Development and Innovation) (SAF2012-38885, SAF2012-33636); L'Oréal-UNESCO “For Women in Science”; Scientific Foundation Asociación Española Contra el Cáncer; Catalan Government (2009SGR290); Carlos III Health Institute. | - |
dc.publisher | John Wiley & Sons | - |
dc.rights | closedAccess | - |
dc.subject | Penetrance | - |
dc.subject | Hereditary colorectal cancer | - |
dc.subject | Colorectal cancer susceptibility | - |
dc.subject | GALNT12 | - |
dc.title | GALNT12 is not a major contributor of familial colorectal cancer type X | - |
dc.type | artículo | - |
dc.identifier.doi | 10.1002/humu.22454 | - |
dc.date.updated | 2015-06-22T08:18:53Z | - |
dc.description.version | Peer Reviewed | - |
dc.language.rfc3066 | eng | - |
dc.contributor.funder | Ministerio de Economía y Competitividad (España) | - |
dc.contributor.funder | L'Oréal | - |
dc.contributor.funder | United Nations Educational, Scientific and Cultural Organization | - |
dc.contributor.funder | Instituto de Salud Carlos III | - |
dc.contributor.funder | Generalitat de Catalunya | - |
dc.contributor.funder | Asociación Española Contra el Cáncer | - |
dc.relation.csic | Sí | - |
dc.identifier.funder | http://dx.doi.org/10.13039/501100003329 | es_ES |
dc.identifier.funder | http://dx.doi.org/10.13039/100005243 | es_ES |
dc.identifier.funder | http://dx.doi.org/10.13039/501100004587 | es_ES |
dc.identifier.funder | http://dx.doi.org/10.13039/501100002809 | es_ES |
dc.type.coar | http://purl.org/coar/resource_type/c_6501 | es_ES |
item.openairetype | artículo | - |
item.cerifentitytype | Publications | - |
item.fulltext | No Fulltext | - |
item.openairecristype | http://purl.org/coar/resource_type/c_18cf | - |
item.grantfulltext | none | - |
Aparece en las colecciones: | (IBGM) Artículos |
Ficheros en este ítem:
Fichero | Descripción | Tamaño | Formato | |
---|---|---|---|---|
accesoRestringido.pdf | 15,38 kB | Adobe PDF | Visualizar/Abrir |
CORE Recommender
SCOPUSTM
Citations
21
checked on 13-mar-2024
WEB OF SCIENCETM
Citations
20
checked on 29-feb-2024
Page view(s)
288
checked on 18-mar-2024
Download(s)
150
checked on 18-mar-2024
Google ScholarTM
Check
Altmetric
Altmetric
NOTA: Los ítems de Digital.CSIC están protegidos por copyright, con todos los derechos reservados, a menos que se indique lo contrario.