Evidence map›Paper›PMID 33672345›Full record

ArticleCancers2021

Germline and Somatic Whole-Exome Sequencing Identifies New Candidate Genes Involved in Familial Predisposition to Serrated Polyposis Syndrome.

Yasmin Soares de Lima, Coral Arnau-Collell, Marcos Díaz-Gay, Laia Bonjoch, Sebastià Franch-Expósito, Jenifer Muñoz, Leticia Moreira, Teresa Ocaña, Miriam Cuatrecasas, Cristina Herrera-Pariente and 9 more

Open access · goldAbstract read
In one paragraph

Article in Cancers, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 16 papers.

0numbers the graph read from it
0cells of the map it votes in
16citing papers in PubMed
2.9field-weighted citation impact, top 9% of its field
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

16 citing papers in PubMed, 23 citations in OpenAlex.

  1. Deciphering the role ofGenes & diseases · 2027
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  11. Germline mutations inJournal of medical genetics · 2023
    Article
  12. TheInternational journal of molecular sciences · 2023
    Article
  13. Unraveling the impact of a germline heterozygousFrontiers in molecular biosciences · 2023
    Article
  14. Review
  15. CFTR and Gastrointestinal Cancers: An Update.Journal of personalized medicine · 2022
    Review
  16. Review
4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

19 authors at 4 institutions in 2 countries.

Yasmin Soares de LimaCentro de Investigación Biomédica en Red de Enfermedades Hepáticas y Digestivas (CIBERehd), Gastroenterology Department, Institut d'Investigacions Biomèdiques August Pi i Sunyer (IDIBAPS), Hospital Clínic, 08036 Barcelona, Spain.
Coral Arnau-CollellCentro de Investigación Biomédica en Red de Enfermedades Hepáticas y Digestivas (CIBERehd), Gastroenterology Department, Institut d'Investigacions Biomèdiques August Pi i Sunyer (IDIBAPS), Hospital Clínic, 08036 Barcelona, Spain.
Marcos Díaz-GayMoores Cancer Center, Department of Cellular and Molecular Medicine, Department of Bioengineering, University of California, San Diego, La Jolla, CA 92093, USA.ORCID 0000-0003-0658-0467
Laia BonjochCentro de Investigación Biomédica en Red de Enfermedades Hepáticas y Digestivas (CIBERehd), Gastroenterology Department, Institut d'Investigacions Biomèdiques August Pi i Sunyer (IDIBAPS), Hospital Clínic, 08036 Barcelona, Spain.ORCID 0000-0002-3351-0037
Sebastià Franch-ExpósitoCentro de Investigación Biomédica en Red de Enfermedades Hepáticas y Digestivas (CIBERehd), Gastroenterology Department, Institut d'Investigacions Biomèdiques August Pi i Sunyer (IDIBAPS), Hospital Clínic, 08036 Barcelona, Spain.
Jenifer MuñozCentro de Investigación Biomédica en Red de Enfermedades Hepáticas y Digestivas (CIBERehd), Gastroenterology Department, Institut d'Investigacions Biomèdiques August Pi i Sunyer (IDIBAPS), Hospital Clínic, 08036 Barcelona, Spain.
Leticia MoreiraCentro de Investigación Biomédica en Red de Enfermedades Hepáticas y Digestivas (CIBERehd), Gastroenterology Department, Institut d'Investigacions Biomèdiques August Pi i Sunyer (IDIBAPS), Hospital Clínic, 08036 Barcelona, Spain.ORCID 0000-0002-4518-8591
Teresa OcañaCentro de Investigación Biomédica en Red de Enfermedades Hepáticas y Digestivas (CIBERehd), Gastroenterology Department, Institut d'Investigacions Biomèdiques August Pi i Sunyer (IDIBAPS), Hospital Clínic, 08036 Barcelona, Spain.
Miriam CuatrecasasCentro de Investigación Biomédica en Red de Enfermedades Hepáticas y Digestivas (CIBERehd), Pathology Department, Institut d'Investigacions Biomèdiques August Pi i Sunyer (IDIBAPS), Tumor Bank-Biobank, Hospital Clínic, 08036 Barcelona, Spain.ORCID 0000-0003-3063-0110
Cristina Herrera-ParienteCentro de Investigación Biomédica en Red de Enfermedades Hepáticas y Digestivas (CIBERehd), Gastroenterology Department, Institut d'Investigacions Biomèdiques August Pi i Sunyer (IDIBAPS), Hospital Clínic, 08036 Barcelona, Spain.ORCID 0000-0002-9748-1212
Sabela CarballalCentro de Investigación Biomédica en Red de Enfermedades Hepáticas y Digestivas (CIBERehd), Gastroenterology Department, Institut d'Investigacions Biomèdiques August Pi i Sunyer (IDIBAPS), Hospital Clínic, 08036 Barcelona, Spain.ORCID 0000-0003-2065-2770
Lorena MorenoCentro de Investigación Biomédica en Red de Enfermedades Hepáticas y Digestivas (CIBERehd), Gastroenterology Department, Institut d'Investigacions Biomèdiques August Pi i Sunyer (IDIBAPS), Hospital Clínic, 08036 Barcelona, Spain.
Aránzazu Díaz de BustamanteGenetics Unit, Hospital Universitario de Móstoles, 28935 Madrid, Spain.
Antoni CastellsCentro de Investigación Biomédica en Red de Enfermedades Hepáticas y Digestivas (CIBERehd), Gastroenterology Department, Institut d'Investigacions Biomèdiques August Pi i Sunyer (IDIBAPS), Hospital Clínic, 08036 Barcelona, Spain.ORCID 0000-0001-8431-2033
Luis BujandaGastroenterology Department, Hospital Donostia-Instituto Biodonostia, Centro de Investigación Biomédica en Red de Enfermedades Hepáticas y Digestivas (CIBERehd), Basque Country University (UPV/EHU), 20014 San Sebastián, Spain.
Joaquín CubiellaGastroenterology Department, Complexo Hospitalario Universitario de Ourense, Instituto de Investigación Sanitaria Galicia Sur, Centro de Investigación Biomédica en Red de Enfermedades Hepáticas y Digestivas (CIBERehd), 32005 Ourense, Spain.ORCID 0000-0002-9994-4831
Daniel Rodríguez-AlcaldeDigestive Disease Section, Hospital Universitario de Móstoles, 28935 Móstoles, Spain.ORCID 0000-0001-6605-5061
Francesc BalaguerCentro de Investigación Biomédica en Red de Enfermedades Hepáticas y Digestivas (CIBERehd), Gastroenterology Department, Institut d'Investigacions Biomèdiques August Pi i Sunyer (IDIBAPS), Hospital Clínic, 08036 Barcelona, Spain.ORCID 0000-0002-0206-0539
Sergi Castellví-BelCentro de Investigación Biomédica en Red de Enfermedades Hepáticas y Digestivas (CIBERehd), Gastroenterology Department, Institut d'Investigacions Biomèdiques August Pi i Sunyer (IDIBAPS), Hospital Clínic, 08036 Barcelona, Spain.ORCID 0000-0003-1217-5097
Centro de Investigación Biomédica en Red de Enfermedades Hepáticas y Digestivas · ESHospital Universitario de Móstoles · ESBiogipuzkoa Health Research Institute · ESUniversity of California San Diego · US

Funding

Agència de Gestió d'Ajuts Universitaris i de Recerca 2019FI_B2_00203 to M. D.-G.Departament de Salut, Generalitat de Catalunya PERIS SLT002/16/00398Departament d'Innovació, Universitats i Empresa, Generalitat de Catalunya AGAUR GRPRE 2017SGR21, GRC 2017SGR653Departament d'Innovació, Universitats i Empresa, Generalitat de Catalunya CERCA programmeEuropean Cooperation in Science and Technology COST Action CA17118Fundació la Marató de TV3 2019-202008Fundación Bancaria Caixa d'Estalvis i Pensions de Barcelona INPhINIT fellowship (LCF/BQ/DI18/11660058; ID 100010434 funded by the EU Horizon 2020 Programme Marie Skłodowska-Curie grant agreement no. 713673) to Y. S. de L.Fundación Científica Asociación Española Contra el Cáncer GCB13131592CASTInstituto de Salud Carlos III 17/00878, 20/00113Instituto de Salud Carlos III CIBEREHDMinisterio de Ciencia, Innovación y Universidades Juan de la Cierva postdoctoral contract (FJCI-2017-32593) to L. B.
6 · The paper itself

Abstract

The serrated polyposis syndrome (SPS) is the most common and yet underdiagnosed colorectal polyposis syndrome. It is characterized by multiple and/or large colonic serrated polyps and a higher associated risk for colorectal cancer (CRC). The main objective of this study was to identify new candidate genes involved in the germline predisposition to SPS/CRC. Thirty-nine SPS patients from 16 families (≥2 patients per family) were recruited without alterations in well-known hereditary CRC genes, and germline and somatic whole-exome sequencing were performed. Germline rare variants with plausible pathogenicity, located in genes involved in cancer development, senescence and epigenetic regulation were selected. Somatic mutational profiling and signature analysis was pursued in one sample per family, when possible. After data filtering,

Indexed as

colorectal cancergenetic predisposition to diseasemutational signaturesserrated polyposis syndromewhole-exome sequencing

Identifiers

PMID33672345
PMCPMC7927050
OpenAlexW3130683908

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Registered trials

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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.