Now showing items 1-2 of 2

    • Thumbnail

      A colorectal cancer genome-wide association study in a Spanish cohort identifies two variants associated with colorectal cancer risk at 1p33 and 8p12 

      Fernández Rozadilla, Ceres; Cazier, Jean-Baptiste; Tomlinson, Ian P.; Carvajal Carmona, Luis G.; Palles, Claire; Lamas, María J.; Baiget, Montserrat; López Fernández, Luis A.; Brea Fernández, Alejandro; Abulí, Anna; Bujanda Fernández de Pierola, Luis ORCID; Clofent, Juan; González, Dolors; Xicola, Rosa; Andreu, Montserrat; Bessa, Xavier; Jover, Rodrigo; Llor, Xavier; Moreno, Víctor; Castells, Antoni; Carracedo, Angel; Castellví-Bel, Sergi; Ruiz Ponte, Clara; EPICOLON Consortium (BioMed Central, 2013-01)
      Background: Colorectal cancer (CRC) is a disease of complex aetiology, with much of the expected inherited risk being due to several common low risk variants. Genome-Wide Association Studies (GWAS) have identified 20 CRC ...
    • Thumbnail

      Evidence for classification of c.1852_1853AA > GC in MLH1 as a neutral variant for Lynch syndrome 

      Castillejo, Adela; Guarinos, Carla; Martínez Canto, Ana; Barberá, Víctor Manuel; Egoavil, Cecilia; Castillejo, María Isabel; Pérez Carbonell, Lucía; Sánchez Heras, Ana Beatriz; Segura, Angel; Ochoa, Enrique; Lázaro, Rafael; Ruiz Ponte, Clara; Bujanda Fernández de Pierola, Luis ORCID; Andreu, Montserrat; Castells, Antoni; Carracedo, Angel; Llor, Xavier; Clofent, Juan; Alenda, Cristina; Paya, Artemio; Jover, Rodrigo; Soto, José Luis (BioMed Central, 2011-01)
      Background: Lynch syndrome (LS) is an autosomal dominant inherited cancer syndrome characterized by early onset cancers of the colorectum, endometrium and other tumours. A significant proportion of DNA variants in LS ...