Evidence map›Paper›PMID 36876055›Full record

ArticleJAAD international2023

Association of germline variants in telomere maintenance genes (

Alisa M Goldstein, Richard Qin, Emily Y Chu, David E Elder, Daniela Massi, David J Adams, Paul W Harms, Carla Daniela Robles-Espinoza, Julia A Newton-Bishop, D Timothy Bishop and 21 more

Open access · goldAbstract read
In one paragraph

Article in JAAD international, 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 12 papers, 1 of them a synthesis that pooled it.

0numbers the graph read from it
0cells of the map it votes in
12citing papers in PubMed, 1 pooled it
2.8field-weighted citation impact, top 9% 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

12 citing papers in PubMed, 1 synthesis or guideline pooled it, 12 citations in OpenAlex.

  1. Guideline
  2. Review
  3. Review
  4. Article
  5. Pediatric Spitzoid Melanoma: A Case Report.Acta medica academica · 2025
    Article
  6. Article
  7. Article
  8. Review
  9. Article
  10. Article
  11. AGenes · 2024
    Review
  12. 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

31 authors at 13 institutions in 6 countries.

Alisa M GoldsteinDivision of Cancer Epidemiology and Genetics, National Cancer Institute, Rockville, Maryland.
Richard QinDivision of Cancer Epidemiology and Genetics, National Cancer Institute, Rockville, Maryland.
Emily Y ChuDepartment of Dermatology, Hospital of the University of Pennsylvania, Philadelphia, Pennsylvania.
David E ElderDepartment of Pathology and Laboratory Medicine, Hospital of the University of Pennsylvania, Philadelphia, Pennsylvania.
Daniela MassiSection of Pathological Anatomy, Department of Health Sciences, University of Florence, Florence, Italy.
David J AdamsExperimental Cancer Genetics, The Wellcome Trust Sanger Institute, Hinxton, England.
Paul W HarmsDepartment of Pathology, University of Michigan, Ann Arbor, Michigan.
Carla Daniela Robles-EspinozaExperimental Cancer Genetics, The Wellcome Trust Sanger Institute, Hinxton, England.
Julia A Newton-BishopDivision of Haematology and Immunology, Institute of Medical Research at St James's, University of Leeds, Leeds, England.
D Timothy BishopDivision of Haematology and Immunology, Institute of Medical Research at St James's, University of Leeds, Leeds, England.
Mark HarlandDivision of Haematology and Immunology, Institute of Medical Research at St James's, University of Leeds, Leeds, England.
Elizabeth A HollandThe Daffodil Centre, The University of Sydney, a joint venture with Cancer Council, NSW, Sydney, Australia.
Anne E CustThe Daffodil Centre, The University of Sydney, a joint venture with Cancer Council, NSW, Sydney, Australia.
Helen SchmidThe Daffodil Centre, The University of Sydney, a joint venture with Cancer Council, NSW, Sydney, Australia.
Graham J MannCentre for Cancer Research, Westmead Institute for Medical Research, The University of Sydney, Sydney, Australia.
Susana PuigMelanoma Unit, Department of Dermatology, Hospital Clínic de Barcelona, IDIBAPS, Barcelona University, Barcelona, Spain.
Miriam PotronyCentre of Biomedical Research on Rare Diseases (CIBERER), ISCIII, Barcelona, Spain.
Llucia AlosPathology Department, Hospital Clínic de Barcelona, Universitat de Barcelona, Barcelona, Spain.
Eduardo NagoreDepartment of Dermatology, Fundación Instituto Valenciano de Oncología, València, Spain.
David Millán-EstebanDepartment of Dermatology, Fundación Instituto Valenciano de Oncología, València, Spain.
Nicholas K HaywardQIMR Berghofer Medical Research Institute, Herston, QLD, Australia.
Natasa BroitQIMR Berghofer Medical Research Institute, Herston, QLD, Australia.
Jane M PalmerQIMR Berghofer Medical Research Institute, Herston, QLD, Australia.
Vaishnavi NathanQIMR Berghofer Medical Research Institute, Herston, QLD, Australia.
Elizabeth G BerryDepartment of Dermatology, Oregon Health and Science University, Portland, Oregon.
Esteban Astiazaran-SymondsDivision of Cancer Epidemiology and Genetics, National Cancer Institute, Rockville, Maryland.
Xiaohong R YangDivision of Cancer Epidemiology and Genetics, National Cancer Institute, Rockville, Maryland.
Margaret A TuckerDivision of Cancer Epidemiology and Genetics, National Cancer Institute, Rockville, Maryland.
Maria Teresa LandiDivision of Cancer Epidemiology and Genetics, National Cancer Institute, Rockville, Maryland.
Ruth M PfeifferDivision of Cancer Epidemiology and Genetics, National Cancer Institute, Rockville, Maryland.
Michael R SargenDivision of Cancer Epidemiology and Genetics, National Cancer Institute, Rockville, Maryland.
National Cancer Institute · USQIMR Berghofer Medical Research Institute · AUThe University of Sydney · AUUniversity of Leeds · GBHospital of the University of Pennsylvania · USInstituto de Salud Carlos III · ESValencia Catholic University Saint Vincent Martyr · ESWellcome Sanger Institute · GBAustralian National University · AUHospital Clínic de Barcelona · ESOregon Health & Science University · USUniversity of Florence · ITUniversity of Michigan · US

Funding

Family Studies ZIACP004410 · NCI · DIVISION OF CANCER EPIDEMIOLOGY AND GENETICS · PI SAVAGE, SHARON A. · 2009 to 2025
$56.1M
Genetic Epidermiology of MelanomaR01CA083115 · NCI · UNIVERSITY OF PENNSYLVANIA · PI BISHOP, DAVID TIMOTHY, ELDER, DAVID ERIC · 2001 to 2017
$13.0M
Medical Research Council MR/V000292/1NCI NIH HHS R01 CA083115
6 · The paper itself

Abstract

Background: Spitzoid morphology in familial melanoma has been associated with germline variants in Objective: To assess if familial melanoma cases associated with germline variants in TMG ( Methods: In this case series, melanomas were classified as having spitzoid morphology if at least 3 of 4 dermatopathologists reported this finding in ≥25% of tumor cells. Logistic regression was used to calculate odds ratios (OR) of spitzoid morphology compared to familial melanomas from unmatched noncarriers that were previously reviewed by a National Cancer Institute dermatopathologist. Results: Spitzoid morphology was observed in 77% (23 of 30), 75% (3 of 4), 50% (2 of 4), and 50% (1 of 2) of melanomas from individuals with germline variants in Limitations: Findings may not be generalizable to nonfamilial melanoma cases. Conclusion: Spitzoid morphology in familial melanoma could suggest germline alteration of TMG.

Indexed as

ACDCI, confidence intervalfamilial melanomaGPV, germline pathogenic variantmelanomaOR, odds ratioPOT1spitz melanomaspitzoid melanomaTERF2IPTERTTMG, telomere maintenance gene

Identifiers

PMID36876055
PMCPMC9978843
OpenAlexW4320012061

What OpenQuestion holds

Textmetadata
LicenceCC BY
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.