Evidence map›Paper›PMID 31293054›Full record

ArticleCancer science2019

Genomic profiles of colorectal carcinoma with liver metastases and newly identified fusion genes.

Takafumi Oga, Yoshihiro Yamashita, Manabu Soda, Shinya Kojima, Toshihide Ueno, Masahito Kawazu, Nobuaki Suzuki, Hiroaki Nagano, Shoichi Hazama, Masashi Izumiya and 2 more

Open access · goldAbstract read
In one paragraph

Article in Cancer science, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 15 papers.

0numbers the graph read from it
0cells of the map it votes in
15citing papers in PubMed
1.5field-weighted citation impact, top 20% 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

15 citing papers in PubMed, 24 citations in OpenAlex.

  1. Article
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  6. Review
  7. Whole-Exome Sequencing Identifies a Novel Germline Variant inInternational journal of molecular sciences · 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

12 authors at 2 institutions in 1 country.

Takafumi OgaDepartment of Cellular Signaling, Graduate School of Medicine, The University of Tokyo, Tokyo, Japan.ORCID https://orcid.org/0000-0001-7489-2644
Yoshihiro YamashitaDepartment of Cellular Signaling, Graduate School of Medicine, The University of Tokyo, Tokyo, Japan.
Manabu SodaDepartment of Cellular Signaling, Graduate School of Medicine, The University of Tokyo, Tokyo, Japan.
Shinya KojimaDepartment of Cellular Signaling, Graduate School of Medicine, The University of Tokyo, Tokyo, Japan.
Toshihide UenoDepartment of Cellular Signaling, Graduate School of Medicine, The University of Tokyo, Tokyo, Japan.
Masahito KawazuDepartment of Medical Genomics, Graduate School of Medicine, The University of Tokyo, Tokyo, Japan.ORCID https://orcid.org/0000-0003-4146-3629
Nobuaki SuzukiDepartment of Gastroenterological, Breast and Endocrine Surgery, Yamaguchi University Graduate School of Medicine, Yamaguchi, Japan.
Hiroaki NaganoDepartment of Gastroenterological, Breast and Endocrine Surgery, Yamaguchi University Graduate School of Medicine, Yamaguchi, Japan.
Shoichi HazamaDepartment of Gastroenterological, Breast and Endocrine Surgery, Yamaguchi University Graduate School of Medicine, Yamaguchi, Japan.ORCID https://orcid.org/0000-0002-5239-8570
Masashi IzumiyaDepartment of Gastroenterology, Graduate School of Medicine, The University of Tokyo, Tokyo, Japan.ORCID https://orcid.org/0000-0002-4794-4418
Kazuhiko KoikeDepartment of Gastroenterology, Graduate School of Medicine, The University of Tokyo, Tokyo, Japan.
Hiroyuki ManoDepartment of Cellular Signaling, Graduate School of Medicine, The University of Tokyo, Tokyo, Japan.ORCID https://orcid.org/0000-0003-4645-0181
The University of Tokyo · JPYamaguchi University · JP

Funding

Japan Agency for Medical Research and Development JP16cm0106502Japan Agency for Medical Research and Development JP17am0001001
6 · The paper itself

Abstract

Every year, approximately 1.2 million cases of colorectal carcinoma (CRC) are newly diagnosed worldwide. Although metastases to distant organs are often fatal complications of CRC, little information is known as to how such metastatic lesions are formed. To reveal the genetic profiles for CRC metastasis, we conducted whole-exome RNA sequencing on CRC tumors with liver metastasis (LM) (group A, n = 12) and clinical stage-matched larger tumors without LM (group B, n = 16). While the somatic mutation profiles were similar among the primary tumors and LM lesions in group A and the tumors in group B, the A-to-C nucleotide change in the context of "AAG" was only enriched in the LM regions in group A, suggesting the presence of a DNA damage process specific to metastasis. Genes already known to be associated with CRC were mutated in all groups at a similar frequency, but we detected somatic nonsynonymous mutations in a total of 707 genes in the LM regions, but not in the tumors without LM. Signaling pathways linked to such "LM-associated" genes were overrepresented for extracellular matrix-receptor interaction or focal adhesion. Further, fusions of the ADAP1 (ArfGAP with dual PH domain 1) were newly identified in our cohort (3 out of 28 patients), which activated ARF6, an ADAP1-substrate. Infrequently, mutated genes may play an important role in metastasis formation of CRC. Additionally, recurrent ADAP1 fusion genes were unexpectedly discovered. As these fusions activate small GTPase, further experiments are warranted to examine their contribution to CRC carcinogenesis.

Indexed as

Gene FusionAdaptor Proteins, Signal TransducingAdultAgedAged, 80 and overCarcinogenesisColorectal NeoplasmsDNA Mutational AnalysisExome SequencingFemaleGene Expression ProfilingHEK293 CellsHumansLiver NeoplasmsMaleMiddle AgedADAP1 protein, humanAdaptor Proteins, Signal TransducingNerve Tissue ProteinsADAP1colorectal carcinomaexome sequencinggene fusionliver metastasis

Identifiers

PMID31293054
PMCPMC6726683
OpenAlexW2962445025

What OpenQuestion holds

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LicenceCC BY-NC
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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.