Evidence map›Paper›PMID 36225340›Full record

ReviewFrontiers in pediatrics2022

Landscape of germline cancer predisposition mutations testing and management in pediatrics: Implications for research and clinical care.

Shilpa A Shahani, Erin L Marcotte

Abstract readReview
In one paragraph

Review in Frontiers in pediatrics, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 12 papers.

0numbers the graph read from it
0cells of the map it votes in
12citing 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

12 citing papers in PubMed.

  1. Article
  2. Review
  3. Review
  4. Pediatric Cancer Predisposition and Surveillance Update: Summary Perspective and Future Directions.Clinical cancer research : an official journal of the American Association for Cancer Research · 2025
    Review
  5. Review
  6. Article
  7. When the somatic genome informs the germline: the example of TP53.Journal of the National Cancer Institute · 2024
    Article
  8. Article
  9. Review
  10. Article
  11. Article
  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

2 authors.

Shilpa A ShahaniDepartment of Pediatrics, City of Hope Comprehensive Cancer Center, Duarte, CA, United States.
Erin L MarcotteDivision of Epidemiology and Clinical Research, Department of Pediatrics, University of Minnesota, Minneapolis, MN, United States.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

As germline genetic testing capacities have improved over the last two decades, increasingly more people are newly diagnosed with germline cancer susceptibility mutations. In the wake of this growth, there remain limitations in both testing strategies and translation of these results into morbidity- and mortality-reducing practices, with pediatric populations remaining especially vulnerable. To face the challenges evoked by an expanding diversity of germline cancer mutations, we can draw upon a model cancer-associated genetic condition for which we have developed a breadth of expertise in managing, Trisomy 21. We can additionally apply advances in other disciplines, such as oncofertility and pharmacogenomics, to enhance care delivery. Herein, we describe the history of germline mutation testing, epidemiology of known germline cancer mutations and their associations with childhood cancer, testing limitations, and future directions for research and clinical care.

Indexed as

cancer predispositioncancer syndromechildhood cancergenetic testinggermline predisposition

Identifiers

PMID36225340
PMCPMC9548803

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.