Evidence map›Paper›PMID 27528712›Full record

ArticleBlood2016

Germ line mutations in shelterin complex genes are associated with familial chronic lymphocytic leukemia.

Helen E Speedy, Ben Kinnersley, Daniel Chubb, Peter Broderick, Philip J Law, Kevin Litchfield, Sandrine Jayne, Martin J S Dyer, Claire Dearden, George A Follows and 2 more

Open access · bronzeAbstract read
In one paragraph

Article in Blood, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 72 papers, 3 of them syntheses that pooled it.

0numbers the graph read from it
0cells of the map it votes in
72citing papers in PubMed, 3 pooled it
6.9field-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

72 citing papers in PubMed, 3 syntheses or guidelines pooled it, 118 citations in OpenAlex.

  1. Guideline
  2. A Systematic Literature Review of Whole Exome and Genome Sequencing Population Studies of Genetic Susceptibility to Cancer.Cancer epidemiology, biomarkers & prevention : a publication of the American Association for Cancer Research, cosponsored by the American Society of Preventive Oncology · 2020
    Pooled it
  3. Pooled it
  4. Review
  5. Article
  6. Article
  7. Review
  8. Genetic Predisposition to Hematologic Malignancies.Cold Spring Harbor perspectives in medicine · 2025
    Review
  9. Article
  10. GermlineJCO precision oncology · 2025
    Article
  11. Article
  12. Article
  13. Review
  14. Article
  15. Article
  16. Article
  17. Review
  18. Article
  19. Article
  20. Clinical Risks for Chronic Lymphocytic Leukemia.Journal of the National Comprehensive Cancer Network : JNCCN · 2024
    Review

12 more citing papers are in PubMed but not listed here.

4 · The record

Corrections and comments

5 · Who and what money

Authors and funding

12 authors at 4 institutions in 1 country.

Helen E SpeedyDivision of Genetics and Epidemiology, The Institute of Cancer Research, London, United Kingdom.
Ben KinnersleyDivision of Genetics and Epidemiology, The Institute of Cancer Research, London, United Kingdom.
Daniel ChubbDivision of Genetics and Epidemiology, The Institute of Cancer Research, London, United Kingdom.
Peter BroderickDivision of Genetics and Epidemiology, The Institute of Cancer Research, London, United Kingdom.
Philip J LawDivision of Genetics and Epidemiology, The Institute of Cancer Research, London, United Kingdom.
Kevin LitchfieldDivision of Genetics and Epidemiology, The Institute of Cancer Research, London, United Kingdom.
Sandrine JayneErnest and Helen Scott Haematological Research Institute, University of Leicester, Leicester, United Kingdom.
Martin J S DyerErnest and Helen Scott Haematological Research Institute, University of Leicester, Leicester, United Kingdom.
Claire DeardenDepartment of Haemato-Oncology, The Royal Marsden National Health Service Foundation Trust, Sutton, United Kingdom.
George A FollowsDepartment of Haematology, Cambridge University Hospitals National Health Service Foundation Trust, Addenbrooke's Hospital, Cambridge, United Kingdom; and.
Daniel CatovskyDivision of Molecular Pathology, The Institute of Cancer Research, London, United Kingdom.
Richard S HoulstonDivision of Genetics and Epidemiology, The Institute of Cancer Research, London, United Kingdom.
Institute of Cancer Research · GBUniversity of Leicester · GBAddenbrooke's Hospital · GBNational Health Service · GB

Funding

Cancer Research UK C1298/A8362Cancer Research UK C325/A15575Department of Health [UK]Medical Research Council MC_U132670597
6 · The paper itself

Abstract

Chronic lymphocytic leukemia (CLL) can be familial; however, thus far no rare germ line disruptive alleles for CLL have been identified. We performed whole-exome sequencing of 66 CLL families, identifying 4 families where loss-of-function mutations in protection of telomeres 1 (

Indexed as

Amino Acid SequenceFemaleGerm-Line MutationHumansLeukemia, Lymphocytic, Chronic, B-CellMalePedigreeRNA Splice SitesShelterin ComplexTelomere-Binding ProteinsTelomere HomeostasisPOT1 protein, humanRNA Splice SitesShelterin ComplexTelomere-Binding Proteins

Identifiers

PMID27528712
PMCPMC5271173
OpenAlexW2515215936

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.