Evidence map›Paper›PMID 35163215›Full record

ArticleInternational journal of molecular sciences2022

Whole-Exome Sequencing Identifies a Novel Germline Variant in

Beiping Miao, Diamanto Skopelitou, Aayushi Srivastava, Sara Giangiobbe, Dagmara Dymerska, Nagarajan Paramasivam, Abhishek Kumar, Magdalena Kuświk, Wojciech Kluźniak, Katarzyna Paszkowska-Szczur and 5 more

Open access · goldAbstract read
In one paragraph

Article in International journal of molecular sciences, 2022. 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
1.3field-weighted citation impact, top 21% 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, 10 citations in OpenAlex.

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

15 authors at 4 institutions in 4 countries.

Beiping MiaoMolecular Genetic Epidemiology, German Cancer Research Center (DKFZ), 69120 Heidelberg, Germany.
Diamanto SkopelitouMolecular Genetic Epidemiology, German Cancer Research Center (DKFZ), 69120 Heidelberg, Germany.
Aayushi SrivastavaMolecular Genetic Epidemiology, German Cancer Research Center (DKFZ), 69120 Heidelberg, Germany.
Sara GiangiobbeMolecular Genetic Epidemiology, German Cancer Research Center (DKFZ), 69120 Heidelberg, Germany.
Dagmara DymerskaDepartment of Genetics and Pathology, Pomeranian Medical University, 71252 Szczecin, Poland.
Nagarajan ParamasivamComputational Oncology, Molecular Diagnostics Program, National Center for Tumor Diseases (NCT), 69120 Heidelberg, Germany.
Abhishek KumarMolecular Genetic Epidemiology, German Cancer Research Center (DKFZ), 69120 Heidelberg, Germany.ORCID 0000-0003-4172-4059
Magdalena KuświkDepartment of Genetics and Pathology, Pomeranian Medical University, 71252 Szczecin, Poland.ORCID 0000-0001-9070-747X
Wojciech KluźniakDepartment of Genetics and Pathology, Pomeranian Medical University, 71252 Szczecin, Poland.
Katarzyna Paszkowska-SzczurDepartment of Genetics and Pathology, Pomeranian Medical University, 71252 Szczecin, Poland.
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.ORCID 0000-0003-2931-3003
Kari HemminkiMolecular Genetic Epidemiology, German Cancer Research Center (DKFZ), 69120 Heidelberg, Germany.ORCID 0000-0002-2769-3316
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

EU Horizon 2020 856620European Cooperation in Science and Technology CA17118
6 · The paper itself

Abstract

Colorectal cancer (CRC) is the third most frequently diagnosed malignancy worldwide. Only 5% of all CRC cases are due to germline mutations in known predisposition genes, and the remaining genetic burden still has to be discovered. In this study, we performed whole-exome sequencing on six members of a Polish family diagnosed with CRC and identified a novel germline variant in the protein tyrosine kinase 7 (inactive) gene (

Indexed as

AgedCell Adhesion MoleculesCell MovementCell ProliferationColorectal NeoplasmsCyclic AMP Response Element-Binding ProteinCyclin-Dependent Kinase Inhibitor p21Exome SequencingFamilyFemaleGenetic Predisposition to DiseaseGerm-Line MutationHumansMaleMiddle AgedNeoplasm InvasivenessCDKN1A protein, humanCell Adhesion MoleculesCREB1 protein, humanCyclic AMP Response Element-Binding ProteinCyclin-Dependent Kinase Inhibitor p21Proto-Oncogene Proteins c-aktPTK7 protein, humanReceptor Protein-Tyrosine KinasesTumor Suppressor Protein p53AKT signaling pathwaycolorectal cancerfamilial cancersfamilial cancer variant prioritization pipelinegermline variantPTK7

Identifiers

PMID35163215
PMCPMC8836109
OpenAlexW4210324282

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.