Evidence map›Paper›PMID 21422799›Full record

ArticleJournal of endocrinological investigation2011

RET proto-oncogene mutations are restricted to codon 618 in Cypriot families with multiple endocrine neoplasia 2.

V Neocleous, N Skordis, G Portides, E Efstathiou, C Costi, N Ioannou, M Pantzaris, V Anastasiadou, C Deltas, L A Phylactou

Abstract readCase Reports
PubMed Publisher
In one paragraph

Article in Journal of endocrinological investigation, 2011. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 6 papers.

0numbers the graph read from it
0cells of the map it votes in
6citing papers in PubMed
0.2field-weighted citation impact, top 45% 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

6 citing papers in PubMed, 8 citations in OpenAlex.

  1. Article
  2. Article
  3. Article
  4. Article
  5. Multiple endocrine neoplasia 2 in Cyprus: evidence for a founder effect.Journal of endocrinological investigation · 2018
    Article
  6. Distribution of RET Mutations in Multiple Endocrine Neoplasia 2 in Denmark 1994-2014: A Nationwide Study.Thyroid : official journal of the American Thyroid Association · 2017
    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

10 authors at 4 institutions in 1 country.

V NeocleousDepartment of Molecular Genetics, Function and Therapy, Cyprus Institute of Neurology and Genetics, P.O. Box 23462, 1683 Nicosia, Cyprus.
N Skordis
G Portides
E Efstathiou
C Costi
N Ioannou
M Pantzaris
V Anastasiadou
C Deltas
L A Phylactou
Cyprus Institute of Neurology and Genetics · CYArchbishop Makarios III Hospital · CYUniversity of Cyprus · CYUniversity of Nicosia · CY

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

backgroundRET germline mutations predispose to the development of inherited cancer syndrome multiple endocrine neoplasia type 2 (MEN2). Several variants of the RET proto-oncogene including G691S and S904S have been suggested to act as genetic modifiers at the age of onset ofMEN2.

aimThe aim of this study is to characterize clinically and molecularly 7 Cypriot patients with familial medullary thyroid carcinoma (FMTC) and 1 with MEN2A and also to determine the allelic frequencies of the RET variants G691S and S904S. SUBJECTS AND

methodsSeven probands from FMTC families and 1 from MEN2A were screened for the presence of RET mutations and the G691S and S904S variants. Additionally, 226 healthy Cypriots, who served as controls were analysed in an attempt to compare the frequencies of G691S and S904S RET variants to those observed in the 8 patients.

resultsThe clinical diagnosis of the probands was based on clinical presentation and supported with biochemical findings. The germline C618R mutation of exon 10 was identified in all 8 probands and in 15 relatives from 7 different families. No significant difference in the G691S/S904S variants allele frequencies between patients (4/16 or 25%) and controls (124/452 or 27.4%) was found.

conclusionsMutational screening of the RET gene identified a common mutation (C618R) in all 8 (7 FMTC and 1 MEN2A) unrelated Cypriot patients which may be explained by a founder effect. Additionally, no association of the G691S/S904S variants was linked with the disease.

Indexed as

AdultCarcinoma, MedullaryChildCyprusFemaleGene FrequencyHumansMaleMiddle AgedMultiple Endocrine Neoplasia Type 2aNeoplastic Syndromes, HereditaryProto-Oncogene MasProto-Oncogene Proteins c-retProto-OncogenesThyroidectomyThyroid NeoplasmsMAS1 protein, humanProto-Oncogene MasProto-Oncogene Proteins c-ret

Identifiers

PMID21422799
OpenAlexW86267276

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.