Evidence map›Paper›PMID 33673279›Full record

Trial reportInternational journal of molecular sciences2021

Whole Exome Sequencing Identifies

Diamanto Skopelitou, Beiping Miao, Aayushi Srivastava, Abhishek Kumar, Magdalena Kuswick, Dagmara Dymerska, Nagarajan Paramasivam, Matthias Schlesner, Jan Lubinski, Kari Hemminki and 2 more

Open access · goldAbstract readClinical Trial
In one paragraph

Trial report in International journal of molecular sciences, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 8 papers.

0numbers the graph read from it
0cells of the map it votes in
8citing papers in PubMed
0.7field-weighted citation impact, top 32% 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

8 citing papers in PubMed, 12 citations in OpenAlex.

  1. Article
  2. Article
  3. Article
  4. Article
  5. Article
  6. Review
  7. Article
  8. 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

12 authors at 4 institutions in 4 countries.

Diamanto SkopelitouMolecular Genetic Epidemiology, German Cancer Research Center (DKFZ), 69120 Heidelberg, Germany.
Beiping MiaoMolecular Genetic Epidemiology, German Cancer Research Center (DKFZ), 69120 Heidelberg, Germany.
Aayushi SrivastavaMolecular Genetic Epidemiology, German Cancer Research Center (DKFZ), 69120 Heidelberg, Germany.
Abhishek KumarMolecular Genetic Epidemiology, German Cancer Research Center (DKFZ), 69120 Heidelberg, Germany.
Magdalena KuswickDepartment of Genetics and Pathology, Pomeranian Medical University, 71252 Szczecin, Poland.
Dagmara DymerskaDepartment of Genetics and Pathology, Pomeranian Medical University, 71252 Szczecin, Poland.ORCID 0000-0001-8097-8014
Nagarajan ParamasivamComputational Oncology, Molecular Diagnostics Program, National Center for Tumor Diseases (NCT), 69120 Heidelberg, Germany.
Matthias SchlesnerBioinformatics and Omics Data Analytics, German Cancer Research Center (DKFZ), 69120 Heidelberg, Germany.ORCID 0000-0002-5896-4086
Jan LubinskiDepartment of Genetics and Pathology, Pomeranian Medical University, 71252 Szczecin, Poland.
Kari HemminkiMolecular Genetic Epidemiology, German Cancer Research Center (DKFZ), 69120 Heidelberg, Germany.
Asta FörstiMolecular Genetic Epidemiology, German Cancer Research Center (DKFZ), 69120 Heidelberg, Germany.ORCID 0000-0002-9857-4728
Obul Reddy BandapalliMolecular Genetic Epidemiology, German Cancer Research Center (DKFZ), 69120 Heidelberg, Germany.ORCID 0000-0002-1132-1745
German Cancer Research Center · DEPomeranian Medical University · PLManipal Academy of Higher Education · INNational Center for Tumor Diseases · DE

Funding

Bundesministerium für Bildung und Forschung Transcan ERA-NET fundingEuropean Cooperation in Science and Technology COST Action CA17118Horizon 2020 grant No. 856620
6 · The paper itself

Abstract

Germline mutations in predisposition genes account for only 20% of all familial colorectal cancers (CRC) and the remaining genetic burden may be due to rare high- to moderate-penetrance germline variants that are not explored. With the aim of identifying such potential cancer-predisposing variants, we performed whole exome sequencing on three CRC cases and three unaffected members of a Polish family and identified two novel heterozygous variants: a coding variant in APC downregulated 1 gene (

Indexed as

Exome SequencingGenetic Predisposition to DiseaseGerm-Line MutationAdultAgedColorectal NeoplasmsFemaleHistone DeacetylasesHumansIntracellular Signaling Peptides and ProteinsMaleMembrane ProteinsMiddle AgedAPCDD1 protein, humanHDAC5 protein, humanHistone DeacetylasesIntracellular Signaling Peptides and ProteinsMembrane Proteins5´UTRAPCDD1familial colorectal cancergermline variantHDAC5promoter activitywhole exome sequencing

Identifiers

PMID33673279
PMCPMC7917948
OpenAlexW3132454821

What OpenQuestion holds

Textmetadata
LicenceCC BY
Read underepoch 390

Registered trials

None linked

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.