Evidence map›Paper›PMID 39462986›Full record

ReviewBritish journal of haematology2025

Different phenotypes with different endings-Telomere biology disorders and cancer predisposition with long telomeres.

Sharon A Savage, Alison A Bertuch, Team Telomere and the Clinical Care Consortium for Telomere‐Associated Ailments (CCCTAA)

Abstract readReview
In one paragraph

Review in British journal of haematology, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 13 papers.

0numbers the graph read from it
0cells of the map it votes in
13citing 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

13 citing papers in PubMed.

  1. Article
  2. How telomere attrition protects against cancer.Nature reviews. Genetics · 2026
    Review
  3. Article
  4. Review
  5. Clonal Signatures of Telomere Biology Disorders.Current hematologic malignancy reports · 2026
    Review
  6. Review
  7. Review
  8. Article
  9. Article
  10. Article
  11. Review
  12. Review
  13. 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

3 authors.

Sharon A SavageClinical Genetics Branch, Division of Cancer Epidemiology and Genetics, National Cancer Institute, Bethesda, Maryland, USA.ORCID https://orcid.org/0000-0001-6006-0740
Alison A BertuchBaylor College of Medicine, Houston, Texas, USA.
Team Telomere and the Clinical Care Consortium for Telomere‐Associated Ailments (CCCTAA)

Funding

Family Studies ZIACP004410 · NCI · DIVISION OF CANCER EPIDEMIOLOGY AND GENETICS · PI SAVAGE, SHARON A. · 2009 to 2025
$56.1M
Clinical Genetics and Screening for Pulmonary FibrosisR01HL130974 · NHLBI · BRIGHAM AND WOMEN'S HOSPITAL · PI GARY MATTHEW HUNNINGHAKE, Benjamin Alexander Raby · 2016 to 2026
$10.0M
Molecular Genetics of the Telomere Biology DisordersR01HL131744 · NHLBI · BAYLOR COLLEGE OF MEDICINE · PI BERTUCH, ALISON A, HOCKEMEYER, DIRK · 2016 to 2025
$4.5M
Intramural NIH HHS ZIA CP004410NCI NIH HHSNHLBI NIH HHS R01 HL130974NHLBI NIH HHS R01 HL131744NIH HHS R01 HL131744
6 · The paper itself

Abstract

Rare germline pathogenic variants (GPVs) in genes essential in telomere length maintenance and function have been implicated in two broad classes of human disease. The telomere biology disorders (TBDs) are a spectrum of life-threatening conditions, including bone marrow failure, liver and lung disease, cancer and other complications caused by GPVs in telomere maintenance genes that result in short and/or dysfunctional telomeres and reduced cellular replicative capacity. In contrast, cancer predisposition with long telomeres (CPLT) is a disorder associated with elevated risk of a variety of cancers, primarily melanoma, thyroid cancer, sarcoma, glioma and lymphoproliferative neoplasms caused by GPVs in shelterin complex genes that lead to excessive telomere elongation and increased cellular replicative capacity. While telomeres are at the root of both disorders, the term TBD is used to convey the clinical phenotypes driven by critically short or otherwise dysfunctional telomeres and their biological consequences.

Indexed as

Genetic Predisposition to DiseaseNeoplasmsTelomereTelomere HomeostasisGerm-Line MutationHumansPhenotypecancergeneticstelomere

Identifiers

PMID39462986
PMCPMC11739769

What OpenQuestion holds

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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.