November 4, 2021
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Article

Genetic Variants Associated with Colorectal Adenoma Susceptibility

Publicated to: PLoS One. 11 (4): e0153084- - 2016-04-14 11(4), DOI: 10.1371/journal.pone.0153084

Authors:

Abuli, Anna; Castells, Antoni; Bujanda, Luis; Jose Lozano, Juan; Bessa, Xavier; Hernandez, Cristina; Alvarez-Urturi, Cristina; Pellise, Maria; Esteban-Jurado, Clara; Hijona, Elizabeth; Buron, Andrea; Macia, Francesc; Grau, Jaume; Guayta, Rafael; Castellvi-Bel, Sergi; Andreu, Montserrat
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Affiliations

CIBERehd, Plataforma Bioinformat, Villarroel 170, Barcelona 08036, Catalonia, Spain - Author
CIBERehd, Plataforma Bioinformat, Villarroel 170, Barcelona 08036, Catalonia, Spain      CIBER - Centro de Investigacion Biomedica en Red    CIBEREHD - Author
Consell Collegis Farmaceut Catalunya, Planning & Res Unit, Barcelona 08009, Catalonia, Spain - Author
Hosp Clin Barcelona, Unitat Avaluacio Suport & Prevent, Rosello 138, E-08036 Barcelona, Catalonia, Spain - Author
Hosp Clin Barcelona, Unitat Avaluacio Suport & Prevent, Rosello 138, E-08036 Barcelona, Catalonia, Spain      University of Barcelona    Hospital Clinic de Barcelona       - Author
Hosp Mar, Dept Epidemiol & Evaluat, IMIM Hosp Mar Med Res Inst, Passeig Maritim 25-29, Barcelona 08003, Catalonia, Spain - Author
Hosp Mar, Dept Epidemiol & Evaluat, IMIM Hosp Mar Med Res Inst, Passeig Maritim 25-29, Barcelona 08003, Catalonia, Spain      Institut Hospital del Mar d'Investigacions Mediques (IMIM)    Hospital del Mar - Author
Pompeu Fabra Univ, Hosp Mar, Dept Gastroenterol, IMIM Hosp Mar Med Res Inst, Passeig Maritim 25-29, Barcelona 08003, Catalonia, Spain - Author
Pompeu Fabra Univ, Hosp Mar, Dept Gastroenterol, IMIM Hosp Mar Med Res Inst, Passeig Maritim 25-29, Barcelona 08003, Catalonia, Spain.      Pompeu Fabra University    Hospital del Mar    Institut Hospital del Mar d'Investigacions Mediques (IMIM) - Author
Pompeu Fabra Univ, Hosp Mar, Dept Gastroenterol, IMIM Hosp Mar Med Res Inst, Passeig Maritim 25-29, Barcelona 08003, Catalonia, Spain      Institut Hospital del Mar d'Investigacions Mediques (IMIM)    Hospital del Mar    Pompeu Fabra University - Author
Univ Barcelona, Dept Gastroenterol, Hosp Clin, CIBERehd,IDIBAPS, Villarroel 170, E-08036 Barcelona, Catalonia, Spain - Author
Univ Barcelona, Dept Gastroenterol, Hosp Clin, CIBERehd,IDIBAPS, Villarroel 170, E-08036 Barcelona, Catalonia, Spain      CIBER - Centro de Investigacion Biomedica en Red    IDIBAPS    CIBEREHD    Hospital Clinic de Barcelona    University of Barcelona - Author
Univ Pais Vasco UPV EHU, Dept Gastroenterol, Ctr Invest Biomed Red Enfermedades Hepat & Digest, Hosp Donostia,Inst Biodonostia, Doctor Begiristain Kalea, Donostia Gipuzkoa 20014, Spain - Author
Univ Pais Vasco UPV EHU, Dept Gastroenterol, Ctr Invest Biomed Red Enfermedades Hepat & Digest, Hosp Donostia,Inst Biodonostia, Doctor Begiristain Kalea, Donostia Gipuzkoa 20014, Spain      CIBER - Centro de Investigacion Biomedica en Red    University of Basque Country    University Hospital Donostia    CIBEREHD - Author
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Abstract

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 selection of patients with increased risk for advanced adenomas and/or multiplicity (>= 3 adenomas). Methods We selected 1,326 patients with increased risk for advanced adenomas and/or multiplicity and 1,252 controls with normal colonoscopy from population-based colorectal cancer screening programs. We conducted a case-control association study analyzing 30 colorectal cancer susceptibility variants in order to investigate the contribution of these variants to the development of subsequent advanced neoplasia and/or multiplicity. Results We found that 14 of the analyzed genetic variants showed a statistically significant association with advanced adenomas and/or multiplicity: the probability of developing these lesions increased with the number of risk alleles reaching a 2.3-fold risk increment in individuals with >= 17 risk alleles. Conclusions Nearly half of the genetic variants associated with colorectal cancer risk are also related to advanced adenoma and/or multiplicity predisposition. Assessing the number of risk alleles in individuals within colorectal cancer screening programs may help to identify better a subgroup with increased risk for advanced neoplasia and/or multiplicity in the general population.
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Keywords

american-cancer-societylocimetaanalysispolypectomypolypspopulationrisksurveillancetask-forceAdenomaAgedAllelesAmerican-cancer-societyCancer colorectalCase studiesCase-control studiesColonoscopiaColonoscopyColorectal cancerColorectal neoplasmsEstudi de casosFemaleGene frequencyGenetic predisposition to diseaseGenética humanaGenome-wide associationGenome-wide association studyGenotypeHuman geneticsHumansLociLogistic modelsMaleMetaanalysisMiddle agedMultivariate analysisMutació (biologia)Mutation (biology)Polymorphism, single nucleotidePolypectomyPolypsPopulationRiskRisk assessmentRisk factorsSurveillanceTask-force

Quality index

Bibliometric impact. Analysis of the contribution and dissemination channel

The work has been published in the journal PLoS One due to its progression and the good impact it has achieved in recent years, according to the agency WoS (JCR), it has become a reference in its field. In the year of publication of the work, 2016, it was in position 15/63, thus managing to position itself as a Q1 (Primer Cuartil), in the category Multidisciplinary Sciences.

Independientemente del impacto esperado determinado por el canal de difusión, es importante destacar el impacto real observado de la propia aportación.

Según las diferentes agencias de indexación, el número de citas acumuladas por esta publicación hasta la fecha 2026-04-11:

  • Google Scholar: 20
  • WoS: 15
  • Scopus: 11
  • Europe PMC: 9
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Impact and social visibility

From the perspective of influence or social adoption, and based on metrics associated with mentions and interactions provided by agencies specializing in calculating the so-called "Alternative or Social Metrics," we can highlight as of 2026-04-11:

  • The use of this contribution in bookmarks, code forks, additions to favorite lists for recurrent reading, as well as general views, indicates that someone is using the publication as a basis for their current work. This may be a notable indicator of future more formal and academic citations. This claim is supported by the result of the "Capture" indicator, which yields a total of: 46 (PlumX).

With a more dissemination-oriented intent and targeting more general audiences, we can observe other more global scores such as:

    It is essential to present evidence supporting full alignment with institutional principles and guidelines on Open Science and the Conservation and Dissemination of Intellectual Heritage. A clear example of this is:

    • The work has been submitted to a journal whose editorial policy allows open Open Access publication.
    • Assignment of a Handle/URN as an identifier within the deposit in the Institutional Repository: http://hdl.handle.net/2445/104289
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    Leadership analysis of institutional authors

    There is a significant leadership presence as some of the institution’s authors appear as the first or last signer, detailed as follows: Last Author (Ocaña Bombardo, Teresa).

    the author responsible for correspondence tasks has been Ocaña Bombardo, Teresa.

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    Awards linked to the item

    This work was supported by grants from: Instituto de Salud Carlos III-FEDER (RD09/0076/00036), the Xarxa de Bancs de tumors sponsored by Pla Director d'Oncologia de Catalunya (XBTC), Fondo de Investigacion Sanitaria/FEDER (PI10/00918, PI11/00219, PI14/00173, PI14/00441), Ministerio de Economia y Competitividad (SAF2010-19273), Asociacion Espanola contra el Cancer (Fundacion Cientifica GCB13131592CAST), and COST Action BM1206 (SCB). SCB is supported by a contract from the Fondo de Investigacion Sanitaria (CP 03-0070) and Agencia de Gestio d'Ajuts Universitaris i de Recerca (Generalitat de Catalunya, 2014SGR255, 2014SGR135). CIBERehd is funded by the Instituto de Salud Carlos III.
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