Evidence map›Paper›PMID 36908940›Full record

ArticleHGG advances2023

Splicing annotation of endometrial cancer GWAS risk loci reveals potentially causal variants and supports a role for

Daffodil M Canson, Tracy A O'Mara, Amanda B Spurdle, Dylan M Glubb

Open access · goldAbstract read
In one paragraph

Article in HGG advances, 2023. 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
0.8field-weighted citation impact, top 28% 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, 5 citations in OpenAlex.

  1. Article
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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

4 authors at 1 institution in 1 country.

Daffodil M CansonPopulation Health Program, QIMR Berghofer Medical Research Institute, Brisbane, QLD 4006, Australia.
Tracy A O'MaraFaculty of Medicine, The University of Queensland, Brisbane, QLD 4006, Australia.
Amanda B SpurdlePopulation Health Program, QIMR Berghofer Medical Research Institute, Brisbane, QLD 4006, Australia.
Dylan M GlubbFaculty of Medicine, The University of Queensland, Brisbane, QLD 4006, Australia.
The University of Queensland · AU

Funding

Epidemiologic StudiesU19CA148065 · NCI · HARVARD SCHOOL OF PUBLIC HEALTH · PI AHSAN, HABIBUL, BRUGGE, JOAN SIEFERT · 2010 to 2014
$10.6M
Ovarian cancer GWAS discovery, expansion and replication (N2 - Project #1)U19CA148112 · NCI · H. LEE MOFFITT CANCER CTR & RES INST · PI SELLERS, THOMAS A · 2010 to 2014
$10.2M
COLLABORATIVE STUDY OF OVARIAN CANCER IN TWO RISK GROUPSR01CA058598 · NCI · UNIVERSITY OF HAWAII AT MANOA · PI GOODMAN, MARC T · 1993 to 2012
$4.6M
Genome-Wide Association Study of Endometrial CancerR01CA134958 · NCI · BRIGHAM AND WOMEN'S HOSPITAL · PI DE VIVO, IMMACULATA · 2009 to 2010
$4.3M
The Mitochondrial Genome and Ovarian Cancer RiskR01CA149429 · NCI · H. LEE MOFFITT CANCER CTR & RES INST · PI PHELAN, CATHERINE · 2010 to 2015
$3.1M
Cancer Research UK C1287/A16563NCI NIH HHS R01 CA058598NCI NIH HHS R01 CA134958NCI NIH HHS R01 CA149429NCI NIH HHS U19 CA148065NCI NIH HHS U19 CA148112Wellcome TrustWellcome Trust 090532/Z/09Z
6 · The paper itself

Abstract

Alternative splicing contributes to cancer development. Indeed, splicing analysis of cancer genome-wide association study (GWAS) risk variants has revealed likely causal variants. To systematically assess GWAS variants for splicing effects, we developed a prioritization workflow using a combination of splicing prediction tools, alternative transcript isoforms, and splicing quantitative trait locus (sQTL) annotations. Application of this workflow to candidate causal variants from 16 endometrial cancer GWAS risk loci highlighted single-nucleotide polymorphisms (SNPs) that were predicted to upregulate alternative transcripts. For two variants, sQTL data supported the predicted impact on splicing. At the 17q11.2 locus, the protective allele for rs7502834 was associated with increased splicing of an exon in a

Indexed as

Endometrial NeoplasmsGenome-Wide Association StudyAlternative SplicingFemaleGenetic Predisposition to DiseaseHumansPhosphoproteinsQuantitative Trait LociPhosphoproteinsSKAP1 protein, humanendometrial cancerGWASNF1SKAP1SpliceAI-10k calculatorspliceogenicsplicingsQTL

Identifiers

PMID36908940
PMCPMC9996439
OpenAlexW4320921963

What OpenQuestion holds

Textmetadata
LicenceCC BY-NC-ND
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.