Evidence map›Paper›PMID 32871102›Full record

ArticleAmerican journal of human genetics2020

eQTL Colocalization Analyses Identify NTN4 as a Candidate Breast Cancer Risk Gene.

Jonathan Beesley, Haran Sivakumaran, Mahdi Moradi Marjaneh, Wei Shi, Kristine M Hillman, Susanne Kaufmann, Nehal Hussein, Siddhartha Kar, Luize G Lima, Sunyoung Ham and 4 more

Open access · bronzeAbstract read
In one paragraph

Article in American journal of human genetics, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 25 papers, 1 of them a synthesis that pooled it.

0numbers the graph read from it
0cells of the map it votes in
25citing papers in PubMed, 1 pooled it
4.2field-weighted citation impact, top 5% 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

25 citing papers in PubMed, 1 synthesis or guideline pooled it, 45 citations in OpenAlex.

  1. Pooled it
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  7. Research progress of the netrins and their receptors in cancer.Journal of cellular and molecular medicine · 2024
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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

14 authors at 3 institutions in 2 countries.

Jonathan BeesleyCancer Division, QIMR Berghofer Medical Research Institute, Brisbane, QLD 4029, Australia. Electronic address: jonathan.beesley@qimrberghofer.edu.au.
Haran SivakumaranCancer Division, QIMR Berghofer Medical Research Institute, Brisbane, QLD 4029, Australia.
Mahdi Moradi MarjanehCancer Division, QIMR Berghofer Medical Research Institute, Brisbane, QLD 4029, Australia.
Wei ShiCancer Division, QIMR Berghofer Medical Research Institute, Brisbane, QLD 4029, Australia.
Kristine M HillmanCancer Division, QIMR Berghofer Medical Research Institute, Brisbane, QLD 4029, Australia.
Susanne KaufmannCancer Division, QIMR Berghofer Medical Research Institute, Brisbane, QLD 4029, Australia.
Nehal HusseinCancer Division, QIMR Berghofer Medical Research Institute, Brisbane, QLD 4029, Australia; Faculty of Medicine, The University of Queensland, Brisbane, QLD 4006, Australia.
Siddhartha KarMRC Integrative Epidemiology Unit, University of Bristol, Bristol, UK; Population Health Sciences, Bristol Medical School, University of Bristol, Bristol, UK.
Luize G LimaCancer Division, QIMR Berghofer Medical Research Institute, Brisbane, QLD 4029, Australia.
Sunyoung HamCancer Division, QIMR Berghofer Medical Research Institute, Brisbane, QLD 4029, Australia.
Andreas MöllerCancer Division, QIMR Berghofer Medical Research Institute, Brisbane, QLD 4029, Australia; Faculty of Medicine, The University of Queensland, Brisbane, QLD 4006, Australia.
Georgia Chenevix-TrenchCancer Division, QIMR Berghofer Medical Research Institute, Brisbane, QLD 4029, Australia.
Stacey L EdwardsCancer Division, QIMR Berghofer Medical Research Institute, Brisbane, QLD 4029, Australia. Electronic address: stacey.edwards@qimrberghofer.edu.au.
Juliet D FrenchCancer Division, QIMR Berghofer Medical Research Institute, Brisbane, QLD 4029, Australia.
QIMR Berghofer Medical Research Institute · AUThe University of Queensland · AUUniversity of Bristol · GB

Funding

Epidemiologic StudiesU19CA148065 · NCI · HARVARD SCHOOL OF PUBLIC HEALTH · PI AHSAN, HABIBUL, BRUGGE, JOAN SIEFERT · 2010 to 2014
$10.6M
NCI NIH HHS U19 CA148065
6 · The paper itself

Abstract

Breast cancer genome-wide association studies (GWASs) have identified 150 genomic risk regions containing more than 13,000 credible causal variants (CCVs). The CCVs are predominantly noncoding and enriched in regulatory elements. However, the genes underlying breast cancer risk associations are largely unknown. Here, we used genetic colocalization analysis to identify loci at which gene expression could potentially explain breast cancer risk phenotypes. Using data from the Breast Cancer Association Consortium (BCAC) and quantitative trait loci (QTL) from the Genotype-Tissue Expression (GTEx) project and The Cancer Genome Project (TCGA), we identify shared genetic relationships and reveal novel associations between cancer phenotypes and effector genes. Seventeen genes, including NTN4, were identified as potential mediators of breast cancer risk. For NTN4, we showed the rs61938093 CCV at this region was located within an enhancer element that physically interacts with the NTN4 promoter, and the risk allele reduced NTN4 promoter activity. Furthermore, knockdown of NTN4 in breast cells increased cell proliferation in vitro and tumor growth in vivo. These data provide evidence linking risk-associated variation to genes that may contribute to breast cancer predisposition.

Indexed as

Gene Expression Regulation, NeoplasticGenetic Predisposition to DiseaseAllelesAnimalsBreast NeoplasmsCell Line, TumorEnhancer Elements, GeneticFemaleGene Expression ProfilingGenome-Wide Association StudyGenomicsHeterograftsHumansMCF-7 CellsMiceMice, NudeNeoplasm ProteinsNetrinsNTN4 protein, humanbreast cancercolocalizationenhancereQTLGWASNTN4tumor suppressor

Identifiers

PMID32871102
PMCPMC7536644
OpenAlexW3081655922

What OpenQuestion 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 OpenQuestion graph.