Evidence map›Paper›PMID 39258234›Full record

ArticleLancet regional health. Americas2024

AI-guided identification of risk variants for adrenocortical tumours in

Bonald C Figueiredo, Florent Dupont, Geoffrey Portelli, Tatiana E J Costa, Gislaine Custódio, Mariana M Paraizo, Heloisa Komechen, Hadrien Gascuel, Maxime Bottau, Elodie Callea and 4 more

Abstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in Lancet regional health. Americas, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.

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

0 citing papers in PubMed.

No citing paper in PubMed yet.

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.

Bonald C FigueiredoInstituto de Pesquisa Pelé Pequeno Príncipe, Curitiba, PR, Brazil.
Florent DupontThales Services Numériques, Valbonne - Sophia Antipolis, France.
Geoffrey PortelliThales Services Numériques, Valbonne - Sophia Antipolis, France.
Tatiana E J CostaHospital Infantil Joana de Gusmão, Florianópolis, SC, Brazil.
Gislaine CustódioLaboratório de Análises Clínicas, Hospital de Clínicas, Universidade Federal do Paraná, Curitiba, PR, Brazil.
Mariana M ParaizoInstituto de Pesquisa Pelé Pequeno Príncipe, Curitiba, PR, Brazil.
Heloisa KomechenInstituto de Pesquisa Pelé Pequeno Príncipe, Curitiba, PR, Brazil.
Hadrien GascuelThales Services Numériques, Valbonne - Sophia Antipolis, France.
Maxime BottauThales Services Numériques, Valbonne - Sophia Antipolis, France.
Elodie CalleaThales Services Numériques, Valbonne - Sophia Antipolis, France.
Ana Paula PercicoteHospital Pequeno Príncipe, Curitiba, PR, Brazil.
Leila G TellesHospital Pequeno Príncipe, Curitiba, PR, Brazil.
Mehdi JendoubiThales Services Numériques, Valbonne - Sophia Antipolis, France.
Enzo LalliInstitut de Pharmacologie Moléculaire et Cellulaire CNRS, Valbonne - Sophia Antipolis, France.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Background: Adrenocortical tumours (ACT) in children are part of the Li-Fraumeni cancer spectrum and are frequently associated with a germline Methods: A genetic association study was conducted in trios of children (14 girls, 7 boys) from southern Brazil carriers of Findings: We analysed genomic data from whole exome sequencing of blood DNA from the trios. Using deep learning algorithms, according to a model where the affected child inherits from the non-carrier parent variant(s) increasing the risk of developing ACT, we found a significantly enriched representation of non-coding variants in genes involved in the cyclic AMP (cAMP) pathway known to be involved in adrenocortical tumorigenesis. One among those variants (rs2278986 in the Interpretation: Profiling of the variant rs2278986 is a candidate for future confirmation and possible use as a tool for ACT risk stratification in Funding: Centre National de la Recherche Scientifique (CNRS), Behring Foundation, Conselho Nacional de Desenvolvimento Científico e Tecnológico (CNPq).

Indexed as

Adrenal glandAdrenocortical tumoursLi-Fraumeni spectrumOncologyPaediatricsTP53 p.R337H

Identifiers

PMID39258234
PMCPMC11386259

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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.