Evidence map›Paper›PMID 29396759›Full record

ArticleJournal of endocrinological investigation2018

Multiple endocrine neoplasia 2 in Cyprus: evidence for a founder effect.

P Fanis, N Skordis, S Frangos, G Christopoulos, E Spanou-Aristidou, E Andreou, P Manoli, M Mavrommatis, S Nicolaou, M Kleanthous and 5 more

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

Article in Journal of endocrinological investigation, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 10 papers.

0numbers the graph read from it
0cells of the map it votes in
10citing papers in PubMed
1.6field-weighted citation impact, top 17% 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

10 citing papers in PubMed, 16 citations in OpenAlex.

  1. Article
  2. Applications of genomic research in pediatric endocrine diseases.Clinical and experimental pediatrics · 2023
    Article
  3. Article
  4. Article
  5. Multiple endocrine neoplasia 2: an overview.Therapeutic advances in chronic disease · 2022
    Review
  6. Article
  7. Article
  8. Article
  9. Association of polymorphisms ofJournal of genetics · 2019
    Article
  10. 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

15 authors at 4 institutions in 1 country.

P FanisDepartment of Molecular Genetics, Function and Therapy, The Cyprus Institute of Neurology and Genetics, P.O. Box 23462, 1683, Nicosia, Cyprus.
N SkordisDepartment of Molecular Genetics, Function and Therapy, The Cyprus Institute of Neurology and Genetics, P.O. Box 23462, 1683, Nicosia, Cyprus.
S FrangosNuclear Medicine Department, Bank of Cyprus Oncology Center, Nicosia, Cyprus.
G ChristopoulosMolecular Genetics Thalassaemia Department, The Cyprus Institute of Neurology and Genetics, Nicosia, Cyprus.
E Spanou-AristidouDepartment of Clinical Genetics, The Cyprus Institute of Neurology and Genetics, P.O. Box 23462, 1683, Nicosia, Cyprus.
E AndreouDasoupolis Endocrinology Center, Andrea Dimitriou Street Dasoupolis, Nicosia, Cyprus.
P ManoliDepartment of Cardiovascular Genetics and the Laboratory of Forensic Genetics, The Cyprus Institute of Neurology and Genetics, Nicosia, Cyprus.
M MavrommatisMolecular Genetics Thalassaemia Department, The Cyprus Institute of Neurology and Genetics, Nicosia, Cyprus.
S NicolaouDivision of Pediatric Endocrinology, Makarios III Hospital, Nicosia, Cyprus.
M KleanthousMolecular Genetics Thalassaemia Department, The Cyprus Institute of Neurology and Genetics, Nicosia, Cyprus.
M A CariolouDepartment of Cardiovascular Genetics and the Laboratory of Forensic Genetics, The Cyprus Institute of Neurology and Genetics, Nicosia, Cyprus.
V Christophidou-AnastasiadouDepartment of Clinical Genetics, The Cyprus Institute of Neurology and Genetics, P.O. Box 23462, 1683, Nicosia, Cyprus.
G A TantelesDepartment of Clinical Genetics, The Cyprus Institute of Neurology and Genetics, P.O. Box 23462, 1683, Nicosia, Cyprus.
L A PhylactouDepartment of Molecular Genetics, Function and Therapy, The Cyprus Institute of Neurology and Genetics, P.O. Box 23462, 1683, Nicosia, Cyprus. laphylac@cing.ac.cy.
V NeocleousDepartment of Molecular Genetics, Function and Therapy, The Cyprus Institute of Neurology and Genetics, P.O. Box 23462, 1683, Nicosia, Cyprus. vassosn@cing.ac.cy.
Cyprus Institute of Neurology and Genetics · CYArchbishop Makarios III Hospital · CYBank of Cyprus Oncology Center · CYUniversity of Nicosia · CY

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

purposeMultiple endocrine neoplasia type 2 (MEN2) affects patients with RET proto-oncogene mutations. This cohort study refers to patients who were diagnosed with familial medullary thyroid carcinoma (MTC) and underwent RET genetic testing in Cyprus between years 2002 and 2017. METHODS AND PATIENTS: Forty patients underwent RET testing by Sanger sequencing of exons 10-11 and 13-16. Genotyping with STR genetic markers flanking the RET gene along with Y-chromosome genotyping and haplogroup assignment was also performed.

resultsRET mutations were identified in 40 patients from 11 apparently unrelated Cypriot families and two non-familial sporadic cases. Nine probands (69.2%) were heterozygous for p.Cys618Arg, one (7.7%) for p.Cys634Phe, one (7.7%) for the somatic delE632-L633 and two (15.4%) for p.Met918Thr mutations. The mean age at MTC diagnosis of patients carrying p.Cys618Arg was 36.8 ± 14.2 years. The age of pheo diagnosis ranged from 26 to 43 years and appeared simultaneously with MTC in 5/36 (13.9%) cases. The high frequency of the p.Cys618Arg mutation suggested a possible ancestral mutational event. Haplotype analysis was performed in families with and without p.Cys618Arg. Six microsatellite markers covering the RET gene and neighboring regions identified one core haplotype associated with all patients carrying p.Cys618Arg mutation.

conclusionsThe mutation p.Cys618Arg is by far the most prevalent mutation in Cyprus followed by other reported mutations of variable clinical significance. The provided molecular evidence speculates p.Cys618Arg mutation as an ancestral mutation that has spread in Cyprus due to a possible founder effect.

Indexed as

Founder EffectAdultArginineCarcinoma, MedullaryCohort StudiesCyprusCysteineFemaleHumansMaleMiddle AgedMultiple Endocrine Neoplasia Type 2aPedigreeProto-Oncogene MasProto-Oncogene Proteins c-retThyroid NeoplasmsArginineCysteineMAS1 protein, humanProto-Oncogene MasProto-Oncogene Proteins c-retRET protein, humanCancerMedullary thyroid carcinomaMultiple endocrine neoplasia type 2PheochromocytomaRET proto-oncogene

Identifiers

PMID29396759
PMCPMC6182349
OpenAlexW2794124608

What OpenQuestion holds

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Registered trials

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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.