Evidence map›Paper›PMID 28881068›Full record

ReviewHuman mutation2017

Molecular genetics of syndromic and non-syndromic forms of parathyroid carcinoma.

Luís Cardoso, Mark Stevenson, Rajesh V Thakker

Open access · hybridAbstract readReview
In one paragraph

Review in Human mutation, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 57 papers, 1 of them a synthesis that pooled it.

0numbers the graph read from it
0cells of the map it votes in
57citing papers in PubMed, 1 pooled it
7.4field-weighted citation impact, top 2% 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, 1 synthesis or guideline pooled it, 111 citations in OpenAlex.

  1. Guideline
  2. Review
  3. Article
  4. Review
  5. Article
  6. Parathyroid carcinoma: epidemiology and genetics.Endocrine oncology (Bristol, England) · 2026
    Review
  7. Diagnosing the silent: the molecular landscape of non-functional parathyroid carcinoma.Virchows Archiv : an international journal of pathology · 2025
    Review
  8. Review
  9. Review
  10. Article
  11. Article
  12. Article
  13. Heritable hyperparathyroidism: Genetic insights and clinical implications.Best practice & research. Clinical endocrinology & metabolism · 2025
    Review
  14. Review
  15. Article
  16. Familial states of primary hyperparathyroidism: an update.Journal of endocrinological investigation · 2024
    Review
  17. Review
  18. Article
  19. Article
  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

3 authors at 2 institutions in 2 countries.

Luís CardosoDepartment of Endocrinology, Diabetes and Metabolism, Centro Hospitalar e Universitário de Coimbra, Praceta Prof Mota Pinto, Coimbra, Portugal.ORCID 0000-0001-9833-7960
Mark StevensonRadcliffe Department of Medicine, Academic Endocrine Unit, Oxford Centre for Diabetes, Endocrinology and Metabolism, University of Oxford, Oxford, United Kingdom.
Rajesh V ThakkerRadcliffe Department of Medicine, Academic Endocrine Unit, Oxford Centre for Diabetes, Endocrinology and Metabolism, University of Oxford, Oxford, United Kingdom.
University of Oxford · GBHospitais da Universidade de Coimbra · PT

Funding

Medical Research Council G1000467Medical Research Council G9825289Wellcome Trust
6 · The paper itself

Abstract

Parathyroid carcinoma (PC) may occur as part of a complex hereditary syndrome or an isolated (i.e., non-syndromic) non-hereditary (i.e., sporadic) endocrinopathy. Studies of hereditary and syndromic forms of PC, which include the hyperparathyroidism-jaw tumor syndrome (HPT-JT), multiple endocrine neoplasia types 1 and 2 (MEN1 and MEN2), and familial isolated primary hyperparathyroidism (FIHP), have revealed some genetic mechanisms underlying PC. Thus, cell division cycle 73 (CDC73) germline mutations cause HPT-JT, and CDC73 mutations occur in 70% of sporadic PC, but in only ∼2% of parathyroid adenomas. Moreover, CDC73 germline mutations occur in 20%-40% of patients with sporadic PC and may reveal unrecognized HPT-JT. This indicates that CDC73 mutations are major driver mutations in the etiology of PCs. However, there is no genotype-phenotype correlation and some CDC73 mutations (e.g., c.679_680insAG) have been reported in patients with sporadic PC, HPT-JT, or FIHP. Other genes involved in sporadic PC include germline MEN1 and rearranged during transfection (RET) mutations and somatic alterations of the retinoblastoma 1 (RB1) and tumor protein P53 (TP53) genes, as well as epigenetic modifications including DNA methylation and histone modifications, and microRNA misregulation. This review summarizes the genetics and epigenetics of the familial syndromic and non-syndromic (sporadic) forms of PC.

Indexed as

EpigenomicsAdenomaDNA MethylationFibromaGerm-Line MutationHumansHyperparathyroidismHyperparathyroidism, PrimaryJaw NeoplasmsMicroRNAsParathyroid NeoplasmsProto-Oncogene ProteinsRetinoblastoma Binding ProteinsTumor Suppressor Protein p53Tumor Suppressor ProteinsUbiquitin-Protein LigasesCDC73 protein, humanMEN1 protein, humanMicroRNAsProto-Oncogene ProteinsRB1 protein, humanRetinoblastoma Binding ProteinsTP53 protein, humanTumor Suppressor Protein p53Tumor Suppressor ProteinsUbiquitin-Protein LigasesCDC73familial isolated primary hyperparathyroidismgenetic syndromeshyperparathyroidism-jaw tumor syndromemultiple endocrine neoplasia type 1

Identifiers

PMID28881068
PMCPMC5698716
OpenAlexW2750870647

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.