Evidence map›Paper›PMID 30305723›Full record

ReviewOncogene2019

Family-based germline sequencing in children with cancer.

Michaela Kuhlen, Julia Taeubner, Triantafyllia Brozou, Dagmar Wieczorek, Reiner Siebert, Arndt Borkhardt

Open access · hybridAbstract readReview
In one paragraph

Review in Oncogene, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 26 papers.

0numbers the graph read from it
0cells of the map it votes in
26citing papers in PubMed
3.1field-weighted citation impact, top 8% 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

26 citing papers in PubMed, 48 citations in OpenAlex.

  1. Article
  2. Article
  3. Article
  4. Article
  5. Do it once, but do it right.Haematologica · 2024
    Article
  6. Review
  7. Article
  8. Article
  9. Observational
  10. Article
  11. Genomic Microsatellite Signatures Identify Germline Mismatch Repair Deficiency and Risk of Cancer Onset.Journal of clinical oncology : official journal of the American Society of Clinical Oncology · 2023
    Article
  12. Article
  13. Article
  14. Review
  15. Article
  16. Article
  17. Hypermethylation ofEXCLI journal · 2022
    Article
  18. Article
  19. Review
  20. Article
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

6 authors at 3 institutions in 1 country.

Michaela KuhlenDepartment of Pediatric Oncology, Hematology and Clinical Immunology, University Children's Hospital, Medical Faculty, Heinrich Heine University, Düsseldorf, Germany. Michaela.Kuhlen@med.uni-duesseldorf.de.ORCID http://orcid.org/0000-0003-4577-0503
Julia TaeubnerDepartment of Pediatric Oncology, Hematology and Clinical Immunology, University Children's Hospital, Medical Faculty, Heinrich Heine University, Düsseldorf, Germany.
Triantafyllia BrozouDepartment of Pediatric Oncology, Hematology and Clinical Immunology, University Children's Hospital, Medical Faculty, Heinrich Heine University, Düsseldorf, Germany.
Dagmar WieczorekInstitute of Human Genetics, Medical Faculty, Heinrich Heine University, Düsseldorf, Germany.
Reiner SiebertInstitute Human Genetics, Ulm University & Ulm University Medical Center, Ulm, Germany.
Arndt BorkhardtDepartment of Pediatric Oncology, Hematology and Clinical Immunology, University Children's Hospital, Medical Faculty, Heinrich Heine University, Düsseldorf, Germany.ORCID http://orcid.org/0000-0002-6121-4737
Düsseldorf University Hospital · DEHeinrich Heine University Düsseldorf · DEUniversität Ulm · DE

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

The discovery of cancer-predisposing syndromes (CPSs) using next-generation sequencing (NGS) technologies is of increasing importance in pediatric oncology with regard to diagnosis, treatment, surveillance, family counselling and research. Recent studies indicate that a considerable percentage of childhood cancers are associated with CPSs. However, the ratio of CPSs that are caused by inherited vs. de novo mutations (DNMs), the risk of recurrence, and even the total number of genes, which should be considered as a true cancer-predisposing gene, are still unknown. In contrast to sequencing only single index patients, family-based NGS of the germline is a very powerful tool for providing unique insights into inheritance patterns (e.g., DNMs, parental mosaicism) and types of aberrations (e.g., SNV, CNV, indels, SV). Furthermore, functional perturbations of key cancer pathways (e.g., TP53, FA/BRCA) by at least two co-inherited heterozygous digenic mutations from each parent and currently unrecognized rare variants and unmeasured genetic interactions between common and rare variants may be a widespread genetic phenomenon in the germline of affected children. Therefore, family-based trio sequencing has the potential to reveal a striking new landscape of inheritance in childhood cancer and to facilitate the integration and efforts of individualized treatment strategies, including personalized and preventive medicine and cancer surveillance programs. Consequently, cancer genetics is becoming an increasingly common approach in modern oncology, so trio-sequencing should also be routinely integrated into pediatric oncology.

Indexed as

Genetic Predisposition to DiseaseBRCA1 ProteinChildFamilyGerm-Line MutationHigh-Throughput Nucleotide SequencingHumansNeoplasmsTumor Suppressor Protein p53BRCA1 ProteinTP53 protein, humanTumor Suppressor Protein p53

Identifiers

PMID30305723
PMCPMC6755997
OpenAlexW2896108481

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.