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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; 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 ...

A High Degree of LINE-1 Hypomethylation Is a Unique Feature of Early-Onset Colorectal Cancer

Antelo, Marina; Balaguer, Francesc; Shia, Jinru; Shen, Yan; Hur, Keun; Moreira, Leticia; Cuatrecasas, Miriam; Bujanda Fernández de Pierola, Luis; Giraldez, María Dolores; Takahashi, Masanobu; Cabanne, Ana; Barugel, Mario Edmund; Arnold, Mildred; Roca, Enrique Luis; Andreu, Montserrat; Castellví-Bel, Sergi; Llor, Xavier; Jover, Rodrigo; Castells, Antoni; Boland, C. Richard; Goel, Ajay (Public Library of Science, 2012-09-25)

Objective: Early-onset colorectal cancer (CRC) represents a clinically distinct form of CRC that is often associated with a poor prognosis. Methylation levels of genomic repeats such as LINE-1 elements have been recognized ...

The MLH1 c.1852_1853delinsGC (p.K618A) Variant in Colorectal Cancer: Genetic Association Study in 18,723 Individuals

Abulí, Anna; Bujanda Fernández de Pierola, Luis; Mun, Jenifer; Buch, Stephan; Schafmayer, Clemens; Maiorana, Maria Valeria; Veneroni, Silvia; Van Wezel, Tom; Liu, Tao; Westers, Helga; Esteban-Jurado, Clara; Ocan, Teresa; Pique, Josep M.; Andreu, Montserrat; Jover, Rodrigo; Carracedo, Angel; Xicola, Rosa M.; Llor, Xavier; Castells, Antoni; The EPICOLON Consortium; Dunlop15, Malcolm; Hofstra, Robert; Lindblom, Annika; Wijnen, Juul; Peterlongo, Paolo; Hampe, Jochen; Ruiz- Ponte, Clara; Castellví-Bel, Sergi (Public Library Science, 2014-04-17)

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 ...

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; 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 ...

Genetic Variants Associated with Colorectal Adenoma Susceptibility

Abulí, Anna; Castells, Antoni; Bujanda Fernández de Pierola, Luis; Lozano, Juan José; Bessa, Xavier; Hernández, Cristina; Álvarez-Urturi, Cristina; Pellisé, María; Esteban-Jurado, Clara; Hijona Muruamendiaraz, Elizabeth; Burón, Andrea; Macià, Francesc; Grau, Jaume; Guayta, Rafael; Castellví-Bel, Sergi; Andreu, Montserrat; PROCOLON research group (PUBLIC LIBRARY SCIENCE, 2016-04-14)

Background Common low-penetrance genetic variants have been consistently associated with colorectal cancer risk. Aim To determine if these genetic variants are associated also with adenoma susceptibility and may ...

Colorectal cancer molecular classification using BRAF, KRAS, microsatellite instability and CIMP status: Prognostic implications and response to chemotherapy

Murcia, Oscar; Juárez, Míriam; Rodríguez Soler, María; Hernández Illán, Eva; Giner Calabuig, Mar; Alustiza, Miren; Egoavil, Cecilia; Castillejo, Adela; Alenda, Cristina; Barberá, Víctor; Mangas Sanjuan, Carolina; Yuste, Ana; Bujanda Fernández de Pierola, Luis; Clofent, Joan; Andreu, Montserrat; Castells, Antoni; Llor, Xavier; Zapater, Pedro; Jover, Rodrigo (Public Library of Science, 2018-09-06)

Objective The aim of this study was to validate a molecular classification of colorectal cancer (CRC) based on microsatellite instability (MSI), CpG island methylator phenotype (CIMP) status, BRAF, and KRAS and investigate ...