Evidence map›Paper›PMID 23778141›Full record

ArticleThe Journal of clinical investigation2013

Whole exome sequencing of adenoid cystic carcinoma.

Philip J Stephens, Helen R Davies, Yoshitsugu Mitani, Peter Van Loo, Adam Shlien, Patrick S Tarpey, Elli Papaemmanuil, Angela Cheverton, Graham R Bignell, Adam P Butler and 26 more

Open access · greenAbstract read
In one paragraph

Article in The Journal of clinical investigation, 2013. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 152 papers, 2 of them syntheses that pooled it.

0numbers the graph read from it
0cells of the map it votes in
152citing papers in PubMed, 2 pooled it
23.8field-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

152 citing papers in PubMed, 2 syntheses or guidelines pooled it, 267 citations in OpenAlex.

  1. Deciphering NOTCH1 as a Biomarker in Adenoid Cystic Carcinoma: Insights From a Systematic Review With Meta-Analysis.Journal of oral pathology & medicine : official publication of the International Association of Oral Pathologists and the American Academy of Oral Pathology · 2025
    Pooled it
  2. Pooled it
  3. Phase II Clinical Trial of Axitinib and Avelumab in Patients With Recurrent/Metastatic Adenoid Cystic Carcinoma.Journal of clinical oncology : official journal of the American Society of Clinical Oncology · 2023
    Trial
  4. Trial
  5. A Phase II Study of Dovitinib in Patients with Recurrent or Metastatic Adenoid Cystic Carcinoma.Clinical cancer research : an official journal of the American Association for Cancer Research · 2017
    Trial
  6. Trial
  7. A phase II study of axitinib (AG-013736) in patients with incurable adenoid cystic carcinoma.Annals of oncology : official journal of the European Society for Medical Oncology · 2016
    Trial
  8. Article
  9. Article
  10. Article
  11. Article
  12. Review
  13. Molecular pathology of adenoid cystic carcinoma.Histology and histopathology · 2025
    Review
  14. Article
  15. Article
  16. Article
  17. Article
  18. Review
  19. Article
  20. Review

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

4 · The record

Corrections and comments

5 · Who and what money

Authors and funding

36 authors at 3 institutions in 4 countries.

Philip J StephensCancer Genome Project, Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Hinxton, Cambridgeshire, United Kingdom.
Helen R Davies
Yoshitsugu Mitani
Peter Van Loo
Adam Shlien
Patrick S Tarpey
Elli Papaemmanuil
Angela Cheverton
Graham R Bignell
Adam P Butler
John Gamble
Stephen Gamble
Claire Hardy
Jonathan Hinton
Mingming Jia
Alagu Jayakumar
David Jones
Calli Latimer
Stuart McLaren
David J McBride
Andrew Menzies
Laura Mudie
Mark Maddison
Keiran Raine
Serena Nik-Zainal
Sarah O'Meara
Jon W Teague
Ignacio Varela
David C Wedge
Ian Whitmore
Scott M Lippman
Ultan McDermott
Michael R Stratton
Peter J Campbell
Adel K El-Naggar
P Andrew Futreal
Wellcome Sanger Institute · GBThe University of Texas MD Anderson Cancer Center · USGenomic (Brazil) · BR

Funding

Targeting the p53 pathway for reversal of oral premalignancyP50CA097007 · NCI · UNIVERSITY OF TX MD ANDERSON CAN CTR · PI MYERS, JEFFREY NICHOLAS · 2002 to 2012
$26.1M
Molecular and Epidemiologic Characterization of Salivary Gland CarcinomasU01DE019765 · NIDCR · UNIVERSITY OF TX MD ANDERSON CAN CTR · PI EL-NAGGAR, ADEL K. · 2009 to 2013
$6.9M
NCI NIH HHS P50 CA097007NIDCR NIH HHS U01 DE019765NIDCR NIH HHS U01DE019765Wellcome Trust 077012/Z/05/ZWellcome Trust 088340Wellcome Trust 093867Wellcome Trust 098051WETP NIH HHS WT088340MA
6 · The paper itself

Abstract

Adenoid cystic carcinoma (ACC) is a rare malignancy that can occur in multiple organ sites and is primarily found in the salivary gland. While the identification of recurrent fusions of the MYB-NFIB genes have begun to shed light on the molecular underpinnings, little else is known about the molecular genetics of this frequently fatal cancer. We have undertaken exome sequencing in a series of 24 ACC to further delineate the genetics of the disease. We identified multiple mutated genes that, combined, implicate chromatin deregulation in half of cases. Further, mutations were identified in known cancer genes, including PIK3CA, ATM, CDKN2A, SF3B1, SUFU, TSC1, and CYLD. Mutations in NOTCH1/2 were identified in 3 cases, and we identify the negative NOTCH signaling regulator, SPEN, as a new cancer gene in ACC with mutations in 5 cases. Finally, the identification of 3 likely activating mutations in the tyrosine kinase receptor FGFR2, analogous to those reported in ovarian and endometrial carcinoma, point to potential therapeutic avenues for a subset of cases.

Indexed as

ExomeCarcinoma, Adenoid CysticDNA Mutational AnalysisGenes, NeoplasmGenetic Association StudiesHigh-Throughput Nucleotide SequencingHumansMutationPolymorphism, Single NucleotideSalivary Gland Neoplasms

Identifiers

PMID23778141
PMCPMC3999050
OpenAlexW2027658726

What OpenQuestion holds

Textmetadata
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.