Evidence map›Paper›PMID 30108113›Full record

ArticleEMBO molecular medicine2018

Comprehensive evaluation of coding region point mutations in microsatellite-unstable colorectal cancer.

Johanna Kondelin, Kari Salokas, Lilli Saarinen, Kristian Ovaska, Heli Rauanheimo, Roosa-Maria Plaketti, Jiri Hamberg, Xiaonan Liu, Leena Yadav, Alexandra E Gylfe and 27 more

Open access · goldAbstract read
In one paragraph

Article in EMBO molecular medicine, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 9 papers.

0numbers the graph read from it
0cells of the map it votes in
9citing papers in PubMed
1.2field-weighted citation impact, top 22% 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

9 citing papers in PubMed, 13 citations in OpenAlex.

  1. Article
  2. Illumination of understudied ciliary kinases.Frontiers in molecular biosciences · 2024
    Review
  3. Article
  4. Article
  5. Article
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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

37 authors at 6 institutions in 3 countries.

Johanna KondelinMedicum/Department of Medical and Clinical Genetics, University of Helsinki, Helsinki, Finland.
Kari SalokasInstitute of Biotechnology, University of Helsinki, Helsinki, Finland.
Lilli SaarinenGenome-Scale Biology Research Program, Research Programs Unit, University of Helsinki, Helsinki, Finland.
Kristian OvaskaGenome-Scale Biology Research Program, Research Programs Unit, University of Helsinki, Helsinki, Finland.
Heli RauanheimoMedicum/Department of Medical and Clinical Genetics, University of Helsinki, Helsinki, Finland.
Roosa-Maria PlakettiMedicum/Department of Medical and Clinical Genetics, University of Helsinki, Helsinki, Finland.
Jiri HambergMedicum/Department of Medical and Clinical Genetics, University of Helsinki, Helsinki, Finland.
Xiaonan LiuInstitute of Biotechnology, University of Helsinki, Helsinki, Finland.ORCID 0000-0002-9600-0536
Leena YadavInstitute of Biotechnology, University of Helsinki, Helsinki, Finland.
Alexandra E GylfeMedicum/Department of Medical and Clinical Genetics, University of Helsinki, Helsinki, Finland.
Tatiana CajusoMedicum/Department of Medical and Clinical Genetics, University of Helsinki, Helsinki, Finland.
Ulrika A HänninenMedicum/Department of Medical and Clinical Genetics, University of Helsinki, Helsinki, Finland.
Kimmo PalinMedicum/Department of Medical and Clinical Genetics, University of Helsinki, Helsinki, Finland.
Heikki RistolainenMedicum/Department of Medical and Clinical Genetics, University of Helsinki, Helsinki, Finland.
Riku KatainenMedicum/Department of Medical and Clinical Genetics, University of Helsinki, Helsinki, Finland.
Eevi KaasinenMedicum/Department of Medical and Clinical Genetics, University of Helsinki, Helsinki, Finland.
Tomas TanskanenMedicum/Department of Medical and Clinical Genetics, University of Helsinki, Helsinki, Finland.
Mervi AavikkoMedicum/Department of Medical and Clinical Genetics, University of Helsinki, Helsinki, Finland.
Minna TaipaleDivision of Functional Genomics, Department of Medical Biochemistry and Biophysics (MBB), Karolinska Institutet, Stockholm, Sweden.
Jussi TaipaleMedicum/Department of Medical and Clinical Genetics, University of Helsinki, Helsinki, Finland.ORCID 0000-0003-4204-0951
Laura Renkonen-SinisaloDepartment of Surgery, Helsinki University Central Hospital, Hospital District of Helsinki and Uusimaa, Helsinki, Finland.
Anna LepistöDepartment of Surgery, Helsinki University Central Hospital, Hospital District of Helsinki and Uusimaa, Helsinki, Finland.
Selja KoskensaloThe HUCH Gastrointestinal Clinic, Helsinki University Central Hospital, Helsinki, Finland.
Jan BöhmDepartment of Pathology, Jyväskylä Central Hospital, Jyväskylä, Finland.
Jukka-Pekka MecklinDepartment of Surgery, Jyväskylä Central Hospital, University of Eastern Finland, Jyväskylä, Finland.
Halit OngenDepartment of Genetic Medicine and Development, University of Geneva Medical School, Geneva, Switzerland.
Emmanouil T DermitzakisDepartment of Genetic Medicine and Development, University of Geneva Medical School, Geneva, Switzerland.
Outi KilpivaaraMedicum/Department of Medical and Clinical Genetics, University of Helsinki, Helsinki, Finland.
Pia VahteristoMedicum/Department of Medical and Clinical Genetics, University of Helsinki, Helsinki, Finland.
Mikko TurunenGenome-Scale Biology Research Program, Research Programs Unit, University of Helsinki, Helsinki, Finland.
Sampsa HautaniemiGenome-Scale Biology Research Program, Research Programs Unit, University of Helsinki, Helsinki, Finland.
Sari TuupanenMedicum/Department of Medical and Clinical Genetics, University of Helsinki, Helsinki, Finland.
Auli KarhuMedicum/Department of Medical and Clinical Genetics, University of Helsinki, Helsinki, Finland.
Niko VälimäkiMedicum/Department of Medical and Clinical Genetics, University of Helsinki, Helsinki, Finland.
Markku VarjosaloInstitute of Biotechnology, University of Helsinki, Helsinki, Finland.
Esa PitkänenMedicum/Department of Medical and Clinical Genetics, University of Helsinki, Helsinki, Finland.ORCID 0000-0002-9818-6370
Lauri A AaltonenMedicum/Department of Medical and Clinical Genetics, University of Helsinki, Helsinki, Finland lauri.aaltonen@helsinki.fi.ORCID 0000-0001-6839-4286
University of Helsinki · FIHelsinki University Hospital · FIUniversity of Geneva · CHCentral Finland Health Care District · FIKarolinska Institutet · SEUniversity of Eastern Finland · FI

Funding

Wellcome TrustWellcome Trust WT091310
6 · The paper itself

Abstract

Microsatellite instability (MSI) leads to accumulation of an excessive number of mutations in the genome, mostly small insertions and deletions. MSI colorectal cancers (CRCs), however, also contain more point mutations than microsatellite-stable (MSS) tumors, yet they have not been as comprehensively studied. To identify candidate driver genes affected by point mutations in MSI CRC, we ranked genes based on mutation significance while correcting for replication timing and gene expression utilizing an algorithm, MutSigCV Somatic point mutation data from the exome kit-targeted area from 24 exome-sequenced sporadic MSI CRCs and respective normals, and 12 whole-genome-sequenced sporadic MSI CRCs and respective normals were utilized. The top 73 genes were validated in 93 additional MSI CRCs. The MutSigCV ranking identified several well-established MSI CRC driver genes and provided additional evidence for previously proposed CRC candidate genes as well as shortlisted genes that have to our knowledge not been linked to CRC before. Two genes,

Indexed as

Microsatellite InstabilityPoint MutationColorectal NeoplasmsGene Regulatory NetworksHumansMolecular Sequence AnnotationSequence Analysis, DNAcancer geneticscolorectal cancermicrosatellite instability

Identifiers

PMID30108113
PMCPMC6402450
OpenAlexW2887729068

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.