Evidence map›Paper›PMID 26950094›Full record

ArticleNature genetics2016

Genomic analysis identifies new drivers and progression pathways in skin basal cell carcinoma.

Ximena Bonilla, Laurent Parmentier, Bryan King, Fedor Bezrukov, Gürkan Kaya, Vincent Zoete, Vladimir B Seplyarskiy, Hayley J Sharpe, Thomas McKee, Audrey Letourneau and 17 more

Abstract read
PubMed Publisher
In one paragraph

Article in Nature genetics, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 280 papers, 4 of them syntheses that pooled it.

0numbers the graph read from it
0cells of the map it votes in
280citing papers in PubMed, 4 pooled it
25.2field-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

280 citing papers in PubMed, 4 syntheses or guidelines pooled it, 485 citations in OpenAlex.

  1. Pooled it
  2. S2k guideline basal cell carcinoma of the skin (update 2023).Journal der Deutschen Dermatologischen Gesellschaft = Journal of the German Society of Dermatology : JDDG · 2024
    Guideline
  3. Pooled it
  4. Swiss Recommendations for Cutaneous Basal Cell Carcinoma.Dermatology (Basel, Switzerland) · 2023
    Guideline
  5. Trial
  6. Article
  7. Article
  8. Review
  9. Review
  10. Article
  11. Does Basal Cell Carcinoma Arise from a Precursor Lesion?The Journal of investigative dermatology · 2026
    Review
  12. Article
  13. Article
  14. Article
  15. Article
  16. Article
  17. Article
  18. Article
  19. Article
  20. Article

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

4 · The record

Corrections and comments

5 · Who and what money

Authors and funding

27 authors at 10 institutions in 5 countries.

Ximena BonillaDepartment of Genetic Medicine and Development, University of Geneva Medical School, Geneva, Switzerland.
Laurent ParmentierDepartment of Dermatology, Hospital of Valais, Sierre, Switzerland.
Bryan KingDepartment of Pathology, New York University School of Medicine, New York, New York, USA.
Fedor BezrukovDepartment of Physics, University of Connecticut, Storrs, Connecticut, USA.ORCID http://orcid.org/0000-0003-3601-1003
Gürkan KayaDepartment of Dermatology, University Hospitals of Geneva, Geneva, Switzerland.
Vincent ZoeteSwiss Institute of Bioinformatics, Lausanne, Switzerland.
Vladimir B SeplyarskiyInstitute of Information Transmission Problems, Russian Academy of Sciences, Moscow, Russia.
Hayley J SharpeDepartment of Molecular Oncology, Genentech, Inc., South San Francisco, California, USA.
Thomas McKeeService of Clinical Pathology, University Hospitals of Geneva, Geneva, Switzerland.
Audrey LetourneauDepartment of Genetic Medicine and Development, University of Geneva Medical School, Geneva, Switzerland.
Pascale G RibauxDepartment of Genetic Medicine and Development, University of Geneva Medical School, Geneva, Switzerland.
Konstantin PopadinDepartment of Genetic Medicine and Development, University of Geneva Medical School, Geneva, Switzerland.
Nicole Basset-SeguinDepartment of Dermatology, Saint Louis Hospital, Paris 7 University, Paris, France.
Rouaa Ben ChaabeneDepartment of Genetic Medicine and Development, University of Geneva Medical School, Geneva, Switzerland.
Federico A SantoniDepartment of Genetic Medicine and Development, University of Geneva Medical School, Geneva, Switzerland.
Maria A AndrianovaInstitute of Information Transmission Problems, Russian Academy of Sciences, Moscow, Russia.
Michel GuipponiService of Genetic Medicine, University Hospitals of Geneva, Geneva, Switzerland.
Marco GarieriDepartment of Genetic Medicine and Development, University of Geneva Medical School, Geneva, Switzerland.
Carole VerdanService of Clinical Pathology, University Hospitals of Geneva, Geneva, Switzerland.
Kerstin GrosdemangeDepartment of Dermatology, University Hospitals of Geneva, Geneva, Switzerland.
Olga SumaraDepartment of Biochemistry and Molecular Biology, University of Würzburg, Würzburg, Germany.
Martin EilersDepartment of Biochemistry and Molecular Biology, University of Würzburg, Würzburg, Germany.ORCID http://orcid.org/0000-0002-0376-6533
Iannis AifantisDepartment of Pathology, New York University School of Medicine, New York, New York, USA.
Olivier MichielinSwiss Institute of Bioinformatics, Lausanne, Switzerland.
Frederic J de SauvageDepartment of Molecular Oncology, Genentech, Inc., South San Francisco, California, USA.
Stylianos E AntonarakisDepartment of Genetic Medicine and Development, University of Geneva Medical School, Geneva, Switzerland.
Sergey I NikolaevDepartment of Genetic Medicine and Development, University of Geneva Medical School, Geneva, Switzerland.
University of Geneva · CHUniversity Hospital of Geneva · CHLomonosov Moscow State University · RUMolecular Oncology (United States) · USNew York University · USSIB Swiss Institute of Bioinformatics · CHUniversity of Würzburg · DEHôpital du Valais · CHUniversité Paris Cité · FRUniversity of Connecticut · US

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Basal cell carcinoma (BCC) of the skin is the most common malignant neoplasm in humans. BCC is primarily driven by the Sonic Hedgehog (Hh) pathway. However, its phenotypic variation remains unexplained. Our genetic profiling of 293 BCCs found the highest mutation rate in cancer (65 mutations/Mb). Eighty-five percent of the BCCs harbored mutations in Hh pathway genes (PTCH1, 73% or SMO, 20% (P = 6.6 × 10(-8)) and SUFU, 8%) and in TP53 (61%). However, 85% of the BCCs also harbored additional driver mutations in other cancer-related genes. We observed recurrent mutations in MYCN (30%), PPP6C (15%), STK19 (10%), LATS1 (8%), ERBB2 (4%), PIK3CA (2%), and NRAS, KRAS or HRAS (2%), and loss-of-function and deleterious missense mutations were present in PTPN14 (23%), RB1 (8%) and FBXW7 (5%). Consistent with the mutational profiles, N-Myc and Hippo-YAP pathway target genes were upregulated. Functional analysis of the mutations in MYCN, PTPN14 and LATS1 suggested their potential relevance in BCC tumorigenesis.

Indexed as

AnilidesAntineoplastic AgentsBasal Cell CarcinomaCarcinogenesisDisease ProgressionDNA Mutational AnalysisExomeGenetic Association StudiesGenetic Predisposition to DiseaseHEK293 CellsHumansMutationPyridinesSignal TransductionSkin NeoplasmsTranscriptomeAnilidesAntineoplastic AgentsHhAntag691Pyridines

Identifiers

PMID26950094
OpenAlexW2293178613

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.