Evidence map›Paper›PMID 35892827›Full record

ReviewCancers2022

Genetic Disorders with Predisposition to Paediatric Haematopoietic Malignancies-A Review.

Aleksandra Filipiuk, Agata Kozakiewicz, Kamil Kośmider, Monika Lejman, Joanna Zawitkowska

Open access · goldAbstract readReview
In one paragraph

Review in Cancers, 2022. 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
0.4field-weighted citation impact, top 38% 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

2 citing papers in PubMed, 3 citations in OpenAlex.

  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

5 authors at 1 institution in 1 country.

Aleksandra FilipiukStudent Scientific Society, Laboratory of Genetic Diagnostics, Medical University of Lublin, A. Racławickie 1, 20-059 Lublin, Poland.
Agata KozakiewiczStudent Scientific Society, Laboratory of Genetic Diagnostics, Medical University of Lublin, A. Racławickie 1, 20-059 Lublin, Poland.
Kamil KośmiderStudent Scientific Society, Laboratory of Genetic Diagnostics, Medical University of Lublin, A. Racławickie 1, 20-059 Lublin, Poland.ORCID 0000-0003-3844-8831
Monika LejmanLaboratory of Genetic Diagnostics, Medical University of Lublin, A. Racławickie 1, 20-059 Lublin, Poland.
Joanna ZawitkowskaDepartment of Pediatric Hematology, Oncology and Transplantology, Medical University of Lublin, A. Racławickie 1, 20-059 Lublin, Poland.ORCID 0000-0001-7207-156X
Medical University of Lublin · PL

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

The view of paediatric cancer as a genetic disease arises as genetic research develops. Germline mutations in cancer predisposition genes have been identified in about 10% of children. Paediatric cancers are characterized by heterogeneity in the types of genetic alterations that drive tumourigenesis. Interactions between germline and somatic mutations are a key determinant of cancer development. In 40% of patients, the family history does not predict the presence of inherited cancer predisposition syndromes and many cases go undetected. Paediatricians should be aware of specific symptoms, which highlight the need of evaluation for cancer syndromes. The quickest possible identification of such syndromes is of key importance, due to the possibility of early detection of neoplasms, followed by presymptomatic genetic testing of relatives, implementation of appropriate clinical procedures (e.g., avoiding radiotherapy), prophylactic surgical resection of organs at risk, or searching for donors of hematopoietic stem cells. Targetable driver mutations and corresponding signalling pathways provide a novel precision medicine strategy.Therefore, there is a need for multi-disciplinary cooperation between a paediatrician, an oncologist, a geneticist, and a psychologist during the surveillance of families with an increased cancer risk. This review aimed to emphasize the role of cancer-predisposition gene diagnostics in the genetic surveillance and medical care in paediatric oncology.

Indexed as

cancer susceptibilitygenetic counsellinggenetic predispositiongermline mutationspaediatric cancer

Identifiers

PMID35892827
PMCPMC9329786
OpenAlexW4286587559

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.