Evidence map›Paper›PMID 24859340›Full record

ArticleNature genetics2014

Identification of recurrent SMO and BRAF mutations in ameloblastomas.

Robert T Sweeney, Andrew C McClary, Benjamin R Myers, Jewison Biscocho, Lila Neahring, Kevin A Kwei, Kunbin Qu, Xue Gong, Tony Ng, Carol D Jones and 11 more

Erratum issuedOpen access · greenAbstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in Nature genetics, 2014. The graph could read no effect estimate from its abstract, so it casts no vote on the map. An erratum has been issued. Cited by 141 papers, 5 of them syntheses that pooled it.

0numbers the graph read from it
0cells of the map it votes in
141citing papers in PubMed, 5 pooled it
13.0field-weighted citation impact, top 1% 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

141 citing papers in PubMed, 5 syntheses or guidelines pooled it, 349 citations in OpenAlex.

  1. Pooled it
  2. Pooled it
  3. Pooled it
  4. Pooled it
  5. Primordial odontogenic tumor: A systematic review.Medicina oral, patologia oral y cirugia bucal · 2020
    Pooled it
  6. Phase II Study of Copanlisib in Patients With Tumors WithJournal of clinical oncology : official journal of the American Society of Clinical Oncology · 2022
    Trial
  7. Differential Outcomes in Codon 12/13 and Codon 61Clinical cancer research : an official journal of the American Association for Cancer Research · 2021
    Trial
  8. Article
  9. Absence of DNA viruses in ameloblastomas.European journal of oral sciences · 2026
    Article
  10. Article
  11. Review
  12. Article
  13. Article
  14. Article
  15. Article
  16. Review
  17. Association ofJournal of dental sciences · 2026
    Article
  18. Article
  19. Article
  20. Observational

81 more citing papers are in PubMed but not listed here.

4 · The record

Corrections and comments

  • Erratum issued
5 · Who and what money

Authors and funding

21 authors at 7 institutions in 3 countries.

Robert T Sweeney1] Department of Pathology, Stanford University, Stanford, California, USA. [2].
Andrew C McClary1] Department of Pathology, Stanford University, Stanford, California, USA. [2].
Benjamin R Myers1] Department of Biochemistry, Stanford University, Stanford, California, USA. [2] Department of Developmental Biology, Stanford University, Stanford, California, USA. [3] Institute for Stem Cell Biology and Regenerative Medicine, Stanford University, Stanford, California, USA. [4] Howard Hughes Medical Institute, Stanford University School of Medicine, Stanford, California, USA. [5].
Jewison Biscocho1] Department of Pathology, Stanford University, Stanford, California, USA. [2].
Lila Neahring1] Department of Biochemistry, Stanford University, Stanford, California, USA. [2] Department of Developmental Biology, Stanford University, Stanford, California, USA. [3] Institute for Stem Cell Biology and Regenerative Medicine, Stanford University, Stanford, California, USA. [4] Howard Hughes Medical Institute, Stanford University School of Medicine, Stanford, California, USA.ORCID 0000000322728732
Kevin A Kwei1] Genomic Health, Redwood City, California, USA. [2].
Kunbin QuGenomic Health, Redwood City, California, USA.
Xue GongDepartment of Pathology, Stanford University, Stanford, California, USA.
Tony NgDepartment of Pathology and Laboratory Medicine, University of British Columbia, Vancouver, British Columbia, Canada.
Carol D JonesDepartment of Pathology, Stanford University, Stanford, California, USA.
Sushama VarmaDepartment of Pathology, Stanford University, Stanford, California, USA.
Justin I OdegaardDepartment of Pathology, Stanford University, Stanford, California, USA.
Toshihiro SugiyamaDepartment of Biochemistry, Akita University Graduate School of Medicine, Akita, Japan.
Souichi KoyotaDepartment of Biochemistry, Akita University Graduate School of Medicine, Akita, Japan.
Brian P RubinDepartment of Anatomic Pathology, Cleveland Clinic, Cleveland, Ohio, USA.
Megan L TroxellDepartment of Pathology, Oregon Health and Sciences University, Portland, Oregon, USA.
Robert J PelhamGenomic Health, Redwood City, California, USA.
James L ZehnderDepartment of Pathology, Stanford University, Stanford, California, USA.
Philip A Beachy1] Department of Biochemistry, Stanford University, Stanford, California, USA. [2] Department of Developmental Biology, Stanford University, Stanford, California, USA. [3] Institute for Stem Cell Biology and Regenerative Medicine, Stanford University, Stanford, California, USA. [4] Howard Hughes Medical Institute, Stanford University School of Medicine, Stanford, California, USA.
Jonathan R PollackDepartment of Pathology, Stanford University, Stanford, California, USA.
Robert B WestDepartment of Pathology, Stanford University, Stanford, California, USA.
Stanford University · USGenomic Health (United States) · USAkita University · JPCleveland Clinic · USHoward Hughes Medical Institute · USOregon Health & Science University · USUniversity of British Columbia · CA

Funding

Translational Oncology Research Program (Project-005)P30CA124435 · NCI · STANFORD UNIVERSITY · PI Melinda L. Telli · 2007 to 2026
$71.4M
Howard Hughes Medical InstituteNCI NIH HHS P30 CA124435
6 · The paper itself

Abstract

Here we report the discovery of oncogenic mutations in the Hedgehog and mitogen-activated protein kinase (MAPK) pathways in over 80% of ameloblastomas, locally destructive odontogenic tumors of the jaw, by genomic analysis of archival material. Mutations in SMO (encoding Smoothened, SMO) are common in ameloblastomas of the maxilla, whereas BRAF mutations are predominant in tumors of the mandible. We show that a frequently occurring SMO alteration encoding p.Leu412Phe is an activating mutation and that its effect on Hedgehog-pathway activity can be inhibited by arsenic trioxide (ATO), an anti-leukemia drug approved by the US Food and Drug Administration (FDA) that is currently in clinical trials for its Hedgehog-inhibitory activity. In a similar manner, ameloblastoma cells harboring an activating BRAF mutation encoding p.Val600Glu are sensitive to the BRAF inhibitor vemurafenib. Our findings establish a new paradigm for the diagnostic classification and treatment of ameloblastomas.

Indexed as

AmeloblastomaAntineoplastic AgentsArsenicalsArsenic TrioxideCell ProliferationHigh-Throughput Nucleotide SequencingHumansIndolesJaw NeoplasmsMutationOxidesPolymerase Chain ReactionProto-Oncogene Proteins B-rafReceptors, G-Protein-CoupledSmoothened ReceptorSulfonamidesAntineoplastic AgentsArsenicalsArsenic TrioxideBRAF protein, humanIndolesOxidesProto-Oncogene Proteins B-rafReceptors, G-Protein-CoupledSmoothened ReceptorSMO protein, humanSulfonamidesVemurafenib

Identifiers

PMID24859340
PMCPMC4418232
OpenAlexW2041653784

What OpenQuestion holds

Textmetadata
LicenceTDM
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.