Browsing by Author "Castellví Bel, Sergi"

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  • Evaluating the potential of polygenic risk score to improve colorectal cancer screening
    Arnau-Collell, Coral; Bellosillo Paricio, Beatriz; Hernández Rodríguez, Cristina; Castellví Bel, Sergi (American Association for Cancer Research (AACR), 2022)
    Background: colorectal cancer has high incidence and associated mortality worldwide. Screening programs are recommended for men and women over 50. Intermediate screens such as fecal immunochemical testing (FIT) select ...
  • Exome sequencing of early-onset patients supports genetic heterogeneity in colorectal cancer
    Fernández-Rozadilla, C.; Álvarez-Barona, M.; Quintana, I.; López-Novo, A.; Amigo, J.; Cameselle-Teijeiro, J.M.; Roman, E.; Gonzalez, D.; Llor, Xavier; Llor, Xavier; Bujanda, Luis; Bessa Caserras, Xavier; Jover, Rodrigo; Balaguer, Francesc; Castells, Antoni; Castellví Bel, Sergi; Capellá, Gabriel; Carracedo, Ángel; Valle, L.; Ruiz Ponte, Clara (Nature Research, 2021)
    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 ...
  • Genetic variants associated with colorectal adenoma susceptibility
    Abulí, Anna; Castells, Antoni; Bujanda, Luis; Lozano, Juan José; Bessa Caserras, Xavier; Hernández Rodríguez, Cristina; Alvarez Urturi, Cristina; Pellisé, Maria; Esteban Jurado, Clara; Hijona, Elizabeth; Buron Pust, Andrea; Macià Guilà, Francesc Assís; Grau, Jaume; Guayta, Rafael; Castellví Bel, Sergi; Andreu García, Montserrat; PROCOLON research group (Public Library of Science, 2016)
    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 improve ...
  • Integrated analysis of germline and tumor DNA identifies new candidate genes involved in familial colorectal cancer
    Díaz-Gay, Marcos; Park, Solip; Parra Farré, Genís; Laurie, Steven, 1973-; Beltran, Sergi; Castellví Bel, Sergi (MDPI, 2019)
    Colorectal cancer (CRC) shows aggregation in some families but no alterations in the known hereditary CRC genes. We aimed to identify new candidate genes which are potentially involved in germline predisposition to familial ...
  • Mutational Signatures in Cancer (MuSiCa): a web application to implement mutational signatures analysis in cancer samples
    Díaz-Gay, Marcos; Vila-Casadesús, Maria; Franch-Expósito, Sebastià; Hernández-Illán, Eva; Lozano, Juan José; Castellví Bel, Sergi (BioMed Central, 2018)
    Background: Mutational signatures have been proved as a valuable pattern in somatic genomics, mainly regarding cancer, with a potential application as a biomarker in clinical practice. Up to now, several bioinformatic ...
  • New genes emerging for colorectal cancer predisposition
    Esteban Jurado, Clara; Garre, Pilar; Vila, Maria; Lozano, Juan José; Pristoupilova, Anna; Beltrán, Sergi; Abulí, Anna; Muñoz, Jenifer; Balaguer, Francesc; Ocaña, Teresa; Castells, Antoni; Piqué, Josep M.; Carracedo, Ángel; Ruiz Ponte, Clara; Bessa Caserras, Xavier; Andreu García, Montserrat; Bujanda, Luis; Caldés, Trinidad; Castellví Bel, Sergi (Baishideng Publishing Group, 2014)
    Colorectal cancer (CRC) is one of the most frequent neoplasms and an important cause of mortality in the developed world. This cancer is caused by both genetic and environmental factors although 35% of the variation in CRC ...
  • The MLH1 c.1852_1853delinsGC (p.K618A) variant in colorectal cancer: genetic association study in 18,723 individuals
    Abulí, Anna; Andreu Camps, Montserrat; Castellví Bel, Sergi (Public Library of Science (PLoS), 2014)
    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 ...
  • Whole-exome sequencing identifies rare pathogenic variants in new predisposition genes for familial colorectal cancer
    Esteban-Jurado, Clara; Abulí, Anna; Bessa Caserras, Xavier; Andreu García, Montserrat; Castellví Bel, Sergi (Elsevier, 2015)
    Purpose. Colorectal cancer is an important cause of mortality in the developed world. Hereditary forms are due to germ-line mutations in APC, MUTYH, and the mismatch repair genes, but many cases present familial aggregation ...

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