Evidence map›Paper›PMID 41542347›Full record

ArticleGenetics in medicine open2025

An evaluation of genetic predisposition to congenital anomalies and pediatric cancer supports

Hyunjung Gu, Yao Yu, Saumya Dushyant Sisoudiya, Pamela Mishra, He Li, Jeremy M Schraw, Michael E Scheurer, Donna M Muzny, Danielle Mitchell, Olga Taylor and 12 more

Abstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in Genetics in medicine open, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 1 paper.

0numbers the graph read from it
0cells of the map it votes in
1citing 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

1 citing paper in PubMed.

  1. 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

22 authors.

Hyunjung GuHuman Genome Sequencing Center, Baylor College of Medicine, Houston, TX.
Yao YuDepartment of Epidemiology, University of Texas MD Anderson Cancer Center, Houston, TX.
Saumya Dushyant SisoudiyaDivision of Hematology-Oncology, Department of Pediatrics, Baylor College of Medicine, Houston, TX.
Pamela MishraHuman Genome Sequencing Center, Baylor College of Medicine, Houston, TX.
He LiHuman Genome Sequencing Center, Baylor College of Medicine, Houston, TX.
Jeremy M SchrawDivision of Hematology-Oncology, Department of Pediatrics, Baylor College of Medicine, Houston, TX.
Michael E ScheurerDivision of Hematology-Oncology, Department of Pediatrics, Baylor College of Medicine, Houston, TX.
Donna M MuznyHuman Genome Sequencing Center, Baylor College of Medicine, Houston, TX.
Danielle MitchellDivision of Hematology-Oncology, Department of Pediatrics, Baylor College of Medicine, Houston, TX.
Olga TaylorDivision of Hematology-Oncology, Department of Pediatrics, Baylor College of Medicine, Houston, TX.
Shalini N JhangianiHuman Genome Sequencing Center, Baylor College of Medicine, Houston, TX.
Shannon Dugan-PerezHuman Genome Sequencing Center, Baylor College of Medicine, Houston, TX.
Yifan WuHuman Genome Sequencing Center, Baylor College of Medicine, Houston, TX.
Harsha DoddapaneniHuman Genome Sequencing Center, Baylor College of Medicine, Houston, TX.
Sravya Venkata BhamidipatiHuman Genome Sequencing Center, Baylor College of Medicine, Houston, TX.
Marie-Claude GingrasHuman Genome Sequencing Center, Baylor College of Medicine, Houston, TX.
Jennifer E PoseyDepartment of Molecular and Human Genetics, Baylor College Medicine, Houston, TX.
Richard A GibbsHuman Genome Sequencing Center, Baylor College of Medicine, Houston, TX.
Chad D HuffDepartment of Epidemiology, University of Texas MD Anderson Cancer Center, Houston, TX.
Sharon E PlonHuman Genome Sequencing Center, Baylor College of Medicine, Houston, TX.
Philip J LupoDivision of Hematology-Oncology, Department of Pediatrics, Baylor College of Medicine, Houston, TX.
Aniko SaboHuman Genome Sequencing Center, Baylor College of Medicine, Houston, TX.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Purpose: Although congenital anomalies are among the strongest risk factors for developing pediatric cancer, the genetic underpinnings remain unclear. Therefore, we evaluated germline susceptibility in children with congenital anomalies and cancer. Methods: Through the Genetic Overlap Between Anomalies and Cancer in Kids Study, we recruited 47 participants with anomalies and cancer, along with their biological families. Genome sequencing was performed, focusing on single-nucleotide variants, indels, and structural variants. Pathogenic or likely pathogenic variants were identified by the American College of Medical Genetics and Genomics classification. Results: We identified pathogenic or likely pathogenic variants in 23.4% (11 of 47) of participants. These variants encompassed (1) 4 genes associated with both anomalies and cancer ( Conclusion: This study demonstrates a molecular diagnostic yield of 23.4% in participants with both anomalies and cancer. Additionally, the findings further implicate the role of

Indexed as

Congenital anomaliesKAT6BNeuroblastomaPediatric cancer

Identifiers

PMID41542347
PMCPMC12800821

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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.