Evidence map›Paper›PMID 25307848›Full record

ArticleNature communications2014

Germline variants in the SEMA4A gene predispose to familial colorectal cancer type X.

Eduard Schulz, Petra Klampfl, Stefanie Holzapfel, Andreas R Janecke, Peter Ulz, Wilfried Renner, Karl Kashofer, Satoshi Nojima, Anita Leitner, Armin Zebisch and 14 more

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

Article in Nature communications, 2014. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 36 papers, 1 of them a synthesis that pooled it.

0numbers the graph read from it
0cells of the map it votes in
36citing papers in PubMed, 1 pooled it
3.8field-weighted citation impact, top 6% 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

36 citing papers in PubMed, 1 synthesis or guideline pooled it, 62 citations in OpenAlex.

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  11. Frontiers in oncology · 2021
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4 · The record

Corrections and comments

5 · Who and what money

Authors and funding

24 authors at 6 institutions in 4 countries.

Eduard SchulzDivision of Hematology, Department of Internal Medicine, Medical University of Graz, A-8036 Graz, Austria.
Petra Klampfl1] Division of Hematology, Department of Internal Medicine, Medical University of Graz, A-8036 Graz, Austria [2] Department of Internal Medicine, General Hospital Graz West, A-8020 Graz, Austria.
Stefanie HolzapfelInstitute of Human Genetics, Faculty of Medicine, University of Bonn, D-53127 Bonn, Germany.
Andreas R Janecke1] Division of Human Genetics, Department of Medical Genetics, Molecular and Clinical Pharmacology, Medical University of Innsbruck, A-6020 Innsbruck, Austria [2] Department of Pediatrics I, Medical University of Innsbruck, A-6020 Innsbruck, Austria.
Peter UlzInstitute of Human Genetics, Medical University of Graz, A-8036 Graz, Austria.
Wilfried RennerClinical Institute of Medical and Chemical Laboratory Diagnostics, Medical University of Graz, A-8036 Graz, Austria.
Karl KashoferInstitute of Pathology, Medical University of Graz, A-8036 Graz, Austria.
Satoshi Nojima1] Department of Immunopathology, WPI Immunology Frontier Research Center, Osaka University, Suita City, Osaka 565-0871, Japan [2] Department of Pathology, Osaka University Graduate School of Medicine, Osaka University, Suita City, Osaka 565-0871, Japan.
Anita LeitnerDepartment of Ear, Nose and Throat, Medical University of Graz, A-8036 Graz, Austria.
Armin ZebischDivision of Hematology, Department of Internal Medicine, Medical University of Graz, A-8036 Graz, Austria.
Albert WölflerDivision of Hematology, Department of Internal Medicine, Medical University of Graz, A-8036 Graz, Austria.
Sybille HoferDivision of Hematology, Department of Internal Medicine, Medical University of Graz, A-8036 Graz, Austria.
Armin GergerDivision of Oncology, Department of Internal Medicine, Medical University of Graz, A-8036 Graz, Austria.
Sigurd LaxDepartment of Pathology, General Hospital Graz West, 8020 Graz, Austria.
Christine Beham-SchmidInstitute of Pathology, Medical University of Graz, A-8036 Graz, Austria.
Verena SteinkeInstitute of Human Genetics, Faculty of Medicine, University of Bonn, D-53127 Bonn, Germany.
Ellen HeitzerInstitute of Human Genetics, Medical University of Graz, A-8036 Graz, Austria.
Jochen B GeiglInstitute of Human Genetics, Medical University of Graz, A-8036 Graz, Austria.
Christian WindpassingerInstitute of Human Genetics, Medical University of Graz, A-8036 Graz, Austria.
Gerald HoeflerInstitute of Pathology, Medical University of Graz, A-8036 Graz, Austria.
Michael R SpeicherInstitute of Human Genetics, Medical University of Graz, A-8036 Graz, Austria.
C Richard BolandDivision of Gastroenterology, Baylor University Medical Center, Dallas, Texas 75246-2017, USA.
Atsushi Kumanogoh1] Department of Immunopathology, WPI Immunology Frontier Research Center, Osaka University, Suita City, Osaka 565-0871, Japan [2] Department of Respiratory Medicine, Allergy and Rheumatic Disease, Graduate School of Medicine, Osaka University, Suita City, Osaka 565-0871, Japan [3] JST, CREST, Suita City, Osaka 565-0871, Japan.
Heinz SillDivision of Hematology, Department of Internal Medicine, Medical University of Graz, A-8036 Graz, Austria.
Medical University of Graz · ATOsaka University · JPUniversity of Bonn · DEBaylor University Medical Center · USGraz University Hospital · ATUniversität Innsbruck · AT

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Familial colorectal cancer type X (FCCTX) is characterized by clinical features of hereditary non-polyposis colorectal cancer with a yet undefined genetic background. Here we identify the SEMA4A p.Val78Met germline mutation in an Austrian kindred with FCCTX, using an integrative genomics strategy. Compared with wild-type protein, SEMA4A(V78M) demonstrates significantly increased MAPK/Erk and PI3K/Akt signalling as well as cell cycle progression of SEMA4A-deficient HCT-116 colorectal cancer cells. In a cohort of 53 patients with FCCTX, we depict two further SEMA4A mutations, p.Gly484Ala and p.Ser326Phe and the single-nucleotide polymorphism (SNP) p.Pro682Ser. This SNP is highly associated with the FCCTX phenotype exhibiting increased risk for colorectal cancer (OR 6.79, 95% CI 2.63 to 17.52). Our study shows previously unidentified germline variants in SEMA4A predisposing to FCCTX, which has implications for surveillance strategies of patients and their families.

Indexed as

Genetic Predisposition to DiseaseAdultAgedAmino Acid SequenceColorectal NeoplasmsFemaleGenetic VariationGerm CellsHumansMaleMiddle AgedMolecular Sequence DataMutation, MissensePhorbolsSemaphorinsSequence AlignmentpedilstatinPhorbolsSEMA4A protein, humanSemaphorins

Identifiers

PMID25307848
PMCPMC4214414
OpenAlexW2089871121

What OpenQuestion holds

Textmetadata
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.