Para acceder a los documentos con el texto completo, por favor, siga el siguiente enlace: http://hdl.handle.net/2445/122275

Título:	The MLH1 c.1852_1853delinsGC (p.K618A) variant in colorectal cancer: genetic association study in 18,723 individuals.
Autor/a:	Abulí, Anna; Bujanda, Luis; Muñoz, Jenifer; Buch, Stephan; Schafmayer, Clemens; Maiorana, Maria Valeria; Veneroni, Silvia; Van Wezel, Tom; Liu, Tao; Westers, Helga; Esteban-Jurado, Clara; Ocaña, Teresa; Piqué, J. M. (Piqué Badía); Andreu, Montserrat; Jover, Rodrigo; Carracedo Álvarez, Ángel; Llor, Xavier; Castells Garangou, Antoni; Dunlop, Malcolm; Hofstra, Robert; Lindblom, Annika; Xicola, Rosa; Wijnen, Juul; Peterlongo, Paolo; Hampe, Jochen; Ruiz-Ponte, Clara; Castellví Bel, Sergi
Notas:	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.
Materia(s):	-Càncer colorectal -Genètica molecular -Malalties hereditàries -Epidemiologia -Colorectal cancer -Molecular genetics -Genetic diseases -Epidemiology
Derechos:	cc-by (c) Abulí, Anna et al., 2014 http://creativecommons.org/licenses/by/3.0/es
Tipo de documento:	Artículo Artículo - Versión publicada
Editor:	Public Library of Science (PLoS)
Compartir:

Mostrar el registro completo del ítem