Evidence map›Paper›PMID 32644145›Full record

ArticleNeuro-oncology2021

Genome-wide analysis of high-risk primary brain cancer pedigrees identifies PDXDC1 as a candidate brain cancer predisposition gene.

Lisa A Cannon-Albright, James M Farnham, Jeffrey Stevens, Craig C Teerlink, Cheryl A Palmer, Kerry Rowe, Melissa H Cessna, Deborah T Blumenthal

Open access · bronzeAbstract read
In one paragraph

Article in Neuro-oncology, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 5 papers.

0numbers the graph read from it
0cells of the map it votes in
5citing papers in PubMed
0.3field-weighted citation impact, top 46% 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

5 citing papers in PubMed, 3 citations in OpenAlex.

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  5. 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

8 authors at 3 institutions in 2 countries.

Lisa A Cannon-AlbrightGenetic Epidemiology, University of Utah School of Medicine, Salt Lake City, Utah, USA.
James M FarnhamGenetic Epidemiology, University of Utah School of Medicine, Salt Lake City, Utah, USA.
Jeffrey StevensGenetic Epidemiology, University of Utah School of Medicine, Salt Lake City, Utah, USA.
Craig C TeerlinkGenetic Epidemiology, University of Utah School of Medicine, Salt Lake City, Utah, USA.
Cheryl A PalmerHuntsman Cancer Institute, Salt Lake City, Utah, USA.
Kerry RoweIntermountain Healthcare, Salt Lake City, Utah, USA.
Melissa H CessnaIntermountain Healthcare, Salt Lake City, Utah, USA.
Deborah T BlumenthalTel-Aviv Sourasky Medical Center, Tel-Aviv University, Tel-Aviv, Israel.
University of Utah · USIntermountain Healthcare · USTel Aviv University · IL

Funding

Utah Center for Clinical and Translational ScienceUL1TR002538 · NCATS · UNIVERSITY OF UTAH · PI HESS, RACHEL, MAJERSIK, JENNIFER JUHL · 2018 to 2022
$26.0M
NCATS NIH HHS UL1 TR002538
6 · The paper itself

Abstract

backgroundThere is evidence for an inherited contribution to primary brain cancer. Linkage analysis of high-risk brain cancer pedigrees has identified candidate regions of interest in which brain cancer predisposition genes are likely to reside.

methodsGenome-wide linkage analysis was performed in a unique set of 11 informative, extended, high-risk primary brain cancer pedigrees identified in a population genealogy database, which include from 2 to 6 sampled, related primary brain cancer cases. Access to formalin-fixed paraffin embedded tissue samples archived in a biorepository allowed analysis of extended pedigrees.

resultsIndividual high-risk pedigrees were singly informative for linkage at multiple regions. Suggestive evidence for linkage was observed on chromosomes 2, 3, 14, and 16. The chromosome 16 region in particular contains a promising candidate gene, pyridoxal-dependent decarboxylase domain-containing 1 (PDXDC1), with prior evidence for involvement with glioblastoma from other previously reported experimental settings, and contains the lead single nucleotide polymorphism (rs3198697) from the linkage analysis of the chromosome 16 region.

conclusionsPedigrees with a statistical excess of primary brain cancers have been identified in a unique genealogy resource representing the homogeneous Utah population. Genome-wide linkage analysis of these pedigrees has identified a potential candidate predisposition gene, as well as multiple candidate regions that could harbor predisposition loci, and for which further analysis is suggested.

Indexed as

Brain NeoplasmsPyridoxalGenetic Predisposition to DiseaseHumansPedigreeUtahPyridoxallinkage analysisPDXDC1primary brain cancerUPDB

Identifiers

PMID32644145
PMCPMC7906047
OpenAlexW3041632839

What Socratic holds

Textmetadata
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 Socratic graph.