Evidence map›Paper›PMID 38795222›Full record

ArticleFamilial cancer2024

Novel telomerase reverse transcriptase gene mutation in a family with aplastic anaemia.

M Virijevic, I Marjanovic, M Andjelkovic, Lj Jakovic, D Micic, A Bogdanovic, S Pavlovic

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In one paragraph

Article in Familial cancer, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 2 papers.

0numbers the graph read from it
0cells of the map it votes in
2citing papers in PubMed
–field-weighted citation impact
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

2 citing papers in PubMed.

  1. Article
  2. Review
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

7 authors.

M VirijevicClinic of Hematology, University Clinical Center of Serbia, Belgrade, Serbia. marijana.virijevic@yahoo.com.ORCID 0000-0003-4626-4215
I MarjanovicInstitute of Molecular Genetics and Genetic Engineering, Laboratory for Molecular Biomedicine, University of Belgrade, Belgrade, Serbia.
M AndjelkovicInstitute of Molecular Genetics and Genetic Engineering, Laboratory for Molecular Biomedicine, University of Belgrade, Belgrade, Serbia.
Lj JakovicClinic of Hematology, University Clinical Center of Serbia, Belgrade, Serbia.
D MicicMother and Child Health Care Institute of Serbia "Dr Vukan Cupic", Belgrade, Serbia.
A BogdanovicClinic of Hematology, University Clinical Center of Serbia, Belgrade, Serbia.
S PavlovicInstitute of Molecular Genetics and Genetic Engineering, Laboratory for Molecular Biomedicine, University of Belgrade, Belgrade, Serbia.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Telomerase Reverse Transcriptase (TERT) encodes the telomerase reverse transcriptase enzyme and is the most frequently mutated gene in patients with telomeropathies. Heterozygous variants impair telomerase activity by haploinsufficiency and pathogenic variants are associated with bone marrow failure syndrome and predisposition to acute myeloid leukaemia. Owing to their rarity, telomeropathies are often unrecognised and misdiagnosed. Herein, we report a novel TERT gene variant, c.2605G > A p.(Asp869Asn) in a family with hereditary aplastic anaemia. This report emphasises the importance of routine deep genetic screening for rare TERT variants in patients with a family history of cytopenia or aplastic anaemia, which could identify clinically inapparent telomere disorders.

Indexed as

Anemia, AplasticPedigreeTelomeraseAdultFemaleHumansMaleMiddle AgedMutationTelomeraseTERT protein, humanAplastic anaemiaFamilyNovel gene mutationTERT

Identifiers

PMID38795222

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.