Evidence map›Paper›PMID 29213343›Full record

ArticleHereditary cancer in clinical practice2017

Exome sequencing characterizes the somatic mutation spectrum of early serrated lesions in a patient with serrated polyposis syndrome (SPS).

Sukanya Horpaopan, Jutta Kirfel, Sophia Peters, Michael Kloth, Robert Hüneburg, Janine Altmüller, Dmitriy Drichel, Margarete Odenthal, Glen Kristiansen, Christian Strassburg and 8 more

Open access · goldAbstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in Hereditary cancer in clinical practice, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 6 papers.

0numbers the graph read from it
0cells of the map it votes in
6citing papers in PubMed
0.7field-weighted citation impact, top 28% 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

6 citing papers in PubMed, 8 citations in OpenAlex.

  1. Review
  2. Neoexpression ofJournal of personalized medicine · 2022
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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

18 authors at 4 institutions in 3 countries.

Sukanya HorpaopanInstitute of Human Genetics, University of Bonn, Bonn, Germany.
Jutta KirfelInstitute of Pathology, University of Bonn, Bonn, Germany.
Sophia PetersInstitute of Human Genetics, University of Bonn, Bonn, Germany.
Michael KlothInstitute of Pathology, University of Cologne, Cologne, Germany.
Robert HüneburgCenter for Hereditary Tumor Syndromes, University Hospital Bonn, Bonn, Germany.
Janine AltmüllerCologne Center for Genomics (CCG), University of Cologne, Cologne, Germany.
Dmitriy DrichelCologne Center for Genomics (CCG), University of Cologne, Cologne, Germany.
Margarete OdenthalInstitute of Pathology, University of Cologne, Cologne, Germany.
Glen KristiansenInstitute of Pathology, University of Bonn, Bonn, Germany.
Christian StrassburgCenter for Hereditary Tumor Syndromes, University Hospital Bonn, Bonn, Germany.
Jacob NattermannCenter for Hereditary Tumor Syndromes, University Hospital Bonn, Bonn, Germany.
Per HoffmannInstitute of Human Genetics, University of Bonn, Bonn, Germany.
Peter NürnbergCologne Center for Genomics (CCG), University of Cologne, Cologne, Germany.
Reinhard BüttnerInstitute of Pathology, University of Cologne, Cologne, Germany.
Holger ThieleCologne Center for Genomics (CCG), University of Cologne, Cologne, Germany.
Philip KahlHeinz-Werner-Seifert-Institut für Dermatopathologie Bonn, Bonn, Germany.
Isabel SpierInstitute of Human Genetics, University of Bonn, Bonn, Germany.
Stefan AretzInstitute of Human Genetics, University of Bonn, Bonn, Germany.
University of Cologne · DEUniversity of Bonn · DEUniversity Hospital Bonn · DENaresuan University · TH

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

backgroundSerrated or Hyperplastic Polyposis Syndrome (SPS, HPS) is a yet poorly defined colorectal cancer (CRC) predisposition characterised by the occurrence of multiple and/or large serrated polyps throughout the colon. A serrated polyp-CRC sequence (serrated pathway) of CRC formation has been postulated, however, to date only few molecular signatures of serrated neoplasia (

methodsTo identify somatic point mutations in potential novel candidate genes of SPS-associated lesions and the involved pathways we performed exome sequencing of eleven early serrated polyps obtained from a 41 year-old female patient with clinically confirmed SPS. For data filtering and analysis, standard pipelines were used. Somatic mutations were identified by comparison with leukocyte DNA and were validated by Sanger sequencing.

resultsThe

conclusionsSomatic mutations seem to be rare events in early hyperplastic and serrated lesions of SPS patients. Neither frequently affected genes nor enrichment of specific pathways were observed. Thus, other alterations such as non-coding variants or epigenetic changes might be the major driving force of tumour progression in SPS.

Indexed as

Exome sequencingFamilial colorectal cancer (CRC)Hyperplastic polyposis syndrome (HPS)Serrated pathwaySerrated polyposis syndrome (SPS)Somatic mutations

Identifiers

PMID29213343
PMCPMC5707812
OpenAlexW2769813046

What OpenQuestion holds

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LicenceCC BY
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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.