Evidence map›Paper›PMID 24783025›Full record

ArticleEuropean thyroid journal2013

2012 European thyroid association guidelines for genetic testing and its clinical consequences in medullary thyroid cancer.

R Elisei, M Alevizaki, B Conte-Devolx, K Frank-Raue, V Leite, G R Williams

Open access · bronzeAbstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in European thyroid journal, 2013. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 57 papers, 4 of them syntheses that pooled it.

0numbers the graph read from it
0cells of the map it votes in
57citing papers in PubMed, 4 pooled it
3.4field-weighted citation impact, top 7% 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

57 citing papers in PubMed, 4 syntheses or guidelines pooled it, 116 citations in OpenAlex.

  1. Predictors of thyroid cancer in paediatric patients with thyroid nodules: A systematic review and meta-analysis.European archives of oto-rhino-laryngology : official journal of the European Federation of Oto-Rhino-Laryngological Societies (EUFOS) : affiliated with the German Society for Oto-Rhino-Laryngology - Head and Neck Surgery · 2026
    Pooled it
  2. Clinical Outcomes of the GermlineMedicina (Kaunas, Lithuania) · 2026
    Pooled it
  3. Pooled it
  4. Guideline
  5. Article
  6. Review
  7. Article
  8. Article
  9. Review
  10. Genes · 2025
    Review
  11. Observational
  12. Review
  13. Review
  14. Review
  15. Article
  16. Review
  17. Hereditary Medullary Thyroid Cancer: Genotype-Phenotype Correlation.Recent results in cancer research. Fortschritte der Krebsforschung. Progres dans les recherches sur le cancer · 2025
    Review
  18. Primary Hyperparathyroidism in MEN2 Syndromes.Recent results in cancer research. Fortschritte der Krebsforschung. Progres dans les recherches sur le cancer · 2025
    Review
  19. Thyroid Malignancy and Cutaneous Lichen Amyloidosis: Key Points AmidInternational journal of molecular sciences · 2024
    Review
  20. Article
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

6 authors at 2 institutions in 2 countries.

R EliseiDepartment of Endocrinology and Metabolism, University of Pisa, Pisa, Italy.
M AlevizakiEndocrine Unit, Department of Medical Therapeutics, Athens University School of Medicine, Athens, Greece.
B Conte-DevolxDepartment of Endocrinology, La Timone Hospital, Aix Marseille University, Marseille, France.
K Frank-RaueEndocrine Practice, Molecular Laboratory, Heidelberg, Germany.
V LeiteDepartment of Endocrinology, Portuguese Institute of Oncology and CEDOC, Faculty of Medical Sciences, Lisbon, Portugal.
G R WilliamsMolecular Endocrinology Group, Department of Medicine, Hammersmith Hospital, Imperial College London, London, UK.
European Molecular Biology Laboratory · DEUniversity of Pisa · IT

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Twenty-five percent of medullary thyroid cancers (MTC) are familial and inherited as an autosomal dominant trait. Three different phenotypes can be distinguished: multiple endocrine neoplasia (MEN) types 2A and 2B, in which the MTC is associated with other endocrine neoplasias, and familial MTC (FMTC), which occurs in isolation. The discovery that germline RET oncogene activating mutations are associated with 95-98% of MEN 2/FMTC syndromes and the availability of genotyping to identify mutations in affected patients and their relatives has revolutionized the diagnostic and therapeutic strategies available for the management of these patients. All patients with MTC, both those with a positive familial history and those apparently sporadic, should be submitted to RET genetic screening. Once an RET mutation has been confirmed in an index patient, first-degree relatives should be screened rapidly to identify the 50% who inherited the mutation and are therefore at risk for development of MTC. Relatives in whom no RET mutation is identified can be reassured and discharged from further follow-up, whereas RET-positive subjects (i.e. gene carriers) must be investigated and a therapeutic strategy initiated. These guideline recommendations are derived from the most recent studies identifying phenotype-genotype correlations following the discovery of causative RET gene mutations in MEN 2 eighteen years ago. Three major points will be discussed: (a) identification of patients and relatives who should have genetic screening for RET mutations, (b) management of asymptomatic gene carriers, and (c) ethics.

Indexed as

CalcitoninGene carriersMedullary thyroid cancerMultiple endocrine neoplasiaRET oncogene

Identifiers

PMID24783025
PMCPMC3821492
OpenAlexW1985295648

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.