Browsing by Author "Ruiz Ponte, Clara"

Now showing items 1-5 of 5

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      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 ...
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      Association between CASP8-652 6N Del Polymorphism (rs3834129) and Colorectal Cancer Risk: Results from a Multi-Centric Study 

      Pardini, Barbara; Verderio, Paolo; Pizzamiglio, Sara; Nici, Carmela; Maiorana, Maria Valeria; Naccarati, Alessio; Vodickova, Ludmila; Vymetalkova, Veronika; Veneroni, Silvia; Daidone, Maria Grazia; Ravagnani, Fernando; Bianchi, Tiziana; Bujanda Fernández de Pierola, Luis ORCID; Carracedo, Angel; Castells, Antoni; Ruiz Ponte, Clara; Morreau, Hans; Howarth, Kimberley; Jones, Angela; Castellví-Bel, Sergi; Li, Li; Tomlinson, Ian; Van Wezel, Tom; Vodicka, Pavel; Radice, Paolo; Peterlongo, Paolo; EPICOLON Consortium (Public Library Science, 2014-01)
      The common 2652 6N del variant in the CASP8 promoter (rs3834129) has been described as a putative low-penetrance risk factor for different cancer types. In particular, some studies suggested that the deleted allele (del) ...
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      Colorectal Cancer Genetic Variants Are Also Associated with Serrated Polyposis Syndrome Susceptibility 

      Arnau Collell, Coral; Soares de Lima, Yasmin; Díaz Gay, Marcos; Muñoz, Jenifer; Carballal, Sabela; Bonjoch, Laia; Moreira, Leticia; Lozano, Juan José; Ocaña, Teresa; Cuatrecasas, Miriam; Díaz de Bustamante, Aranzazu; Castells, Antoni; Capella, Gabriel; Bujanda Fernández de Pierola, Luis ORCID; Cubiella, Joaquín; Rodríguez Alcalde, Daniel; Balaguer, Francesc; Ruiz Ponte, Clara; Valle, Laura; Moreno, Víctor; Castellví Bel, Sergi (BMJ Publishing Group, 2020-10)
      Background Serrated polyposis syndrome (SPS) is a clinical entity characterised by large and/ormultiple serrated polyps throughout the colon and increased risk for colorectal cancer (CRC). The basis for SPS genetic ...
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      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 ...
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      Exome Sequencing of Early-Onset Patients Supports Genetic Heterogeneity in Colorectal Cancer 

      Fernández Rozadilla, Ceres; Álvarez Barona, M.; Quintana, I.; López Novo, A.; Amigo, J.; Cameselle Teijeiro, J. M.; Román, E.; González, Dolors; Llor, Xavier; Bujanda Fernández de Pierola, Luis ORCID; Bessa, Xavier; Jover, Rodrigo; Balaguer, Francesc; Castells, Antoni; Castellví Bel, Sergi; Capella, Gabriel; Carracedo, Angel; Valle, Laura; Ruiz Ponte, Clara (Springer, 2021-05-27)
      Colorectal cancer (CRC) is a complex disease that can be caused by a spectrum of genetic variants ranging from low to high penetrance changes, that interact with the environment to determine which individuals will develop ...