Evidence map›Paper›PMID 39184053›Full record

ArticleFrontiers in oncology2024

Frequency of pathogenic germline variants in pediatric medulloblastoma survivors.

Donald Rees, D Matthew Gianferante, Jung Kim, Theodora Stavrou, Gregory Reaman, Yadav Sapkota, M Monica Gramatges, Lindsay M Morton, Melissa M Hudson, Gregory T Armstrong and 10 more

Abstract read
In one paragraph

Article in Frontiers in oncology, 2024. 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
–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

2 citing papers in PubMed.

  1. Review
  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

20 authors.

Donald Rees *Division of Cancer Epidemiology and Genetics, National Cancer Institute, National Institutes of Health (NIH), Rockville, MD, United States.
D Matthew Gianferante *Division of Cancer Epidemiology and Genetics, National Cancer Institute, National Institutes of Health (NIH), Rockville, MD, United States.
Jung KimDivision of Cancer Epidemiology and Genetics, National Cancer Institute, National Institutes of Health (NIH), Rockville, MD, United States.
Theodora StavrouDepartment of Public Health, Ministry of Health, Athens, Greece.
Gregory ReamanDivision Cancer Treatment and Diagnosis, National Cancer Institute, National Institutes of Health (NIH), Bethesda, MD, United States.
Yadav SapkotaDepartments of Oncology and Epidemiology and Cancer Control, St. Jude Children's Research Hospital, Memphis, TN, United States.
M Monica GramatgesDivision of Hematology and Oncology, Department of Pediatrics, Texas Children's Hospital, Baylor College of Medicine, Houston, TX, United States.
Lindsay M MortonDivision of Cancer Epidemiology and Genetics, National Cancer Institute, National Institutes of Health (NIH), Rockville, MD, United States.
Melissa M HudsonDepartments of Oncology and Epidemiology and Cancer Control, St. Jude Children's Research Hospital, Memphis, TN, United States.
Gregory T ArmstrongDepartments of Oncology and Epidemiology and Cancer Control, St. Jude Children's Research Hospital, Memphis, TN, United States.
Neal D FreedmanDivision of Cancer Epidemiology and Genetics, National Cancer Institute, National Institutes of Health (NIH), Rockville, MD, United States.
Wen-Yi HuangDivision of Cancer Epidemiology and Genetics, National Cancer Institute, National Institutes of Health (NIH), Rockville, MD, United States.
W Ryan DiverDepartment of Population Science, American Cancer Society, Atlanta, GA, United States.
Adriana LoriDepartment of Population Science, American Cancer Society, Atlanta, GA, United States.
Wen LuoCancer Genomics Research Laboratory, Frederick National Laboratory for Cancer Research, Frederick, MD, United States.
Belynda D HicksCancer Genomics Research Laboratory, Frederick National Laboratory for Cancer Research, Frederick, MD, United States.
Jia LiuCancer Genomics Research Laboratory, Frederick National Laboratory for Cancer Research, Frederick, MD, United States.
Amy A HutchinsonCancer Genomics Research Laboratory, Frederick National Laboratory for Cancer Research, Frederick, MD, United States.
Alisa M Goldstein *Division of Cancer Epidemiology and Genetics, National Cancer Institute, National Institutes of Health (NIH), Rockville, MD, United States.
Lisa Mirabello *Division of Cancer Epidemiology and Genetics, National Cancer Institute, National Institutes of Health (NIH), Rockville, MD, United States.

Funding

Mach-LETSGO: Machine-LEarning of Treatment, Survey, and Genetics towards Obtaining Correct Classification of Chronic Conditions in Adult Survivors in the Childhood Cancer Survivor Study - CCSS SupplU24CA055727 · NCI · UNIVERSITY OF MINNESOTA TWIN CITIES · PI Gregory Armstrong · 1999 to 2026
$96.7M
NCI NIH HHS U24 CA055727
6 · The paper itself

Abstract

Background: Medulloblastoma is the most common malignant brain tumor in children. Most cases are sporadic, but well characterized germline alterations in Methods: Germline exome sequencing was conducted on 160 childhood survivors of medulloblastoma. Analyses focused on rare variants in 239 known cancer susceptibility genes (CSGs). P/LP variants were identified using ClinVar and InterVar. Variants of unknown significance in known medulloblastoma predisposing genes ( Results: Twenty cases (12.5%) had a P/LP variant in an autosomal dominant CSG versus 5% in controls (p=1.0 x10 Conclusion: Approximately one in eight pediatric medulloblastoma survivors had an autosomal dominant P/LP CSG variant. We confirm several known associated genes and identify novel genes that may be important in medulloblastoma.

Indexed as

germlinemedulloblastomapathogenicpediatricsurvivor

Identifiers

PMID39184053
PMCPMC11341988

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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.