Evidence map›Paper›PMID 36765901›Full record

ArticleCancers2023

Novel Candidate

Cristina Andrés-Zayas, Julia Suárez-González, María Chicano-Lavilla, Mariana Bastos Oreiro, Gabriela Rodríguez-Macías, Patricia Font López, Santiago Osorio Prendes, Gillen Oarbeascoa Royuela, Patricia García Ramírez, Rocío Nieves Salgado and 7 more

Abstract read
In one paragraph

Article in Cancers, 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 1 paper.

0numbers the graph read from it
0cells of the map it votes in
1citing 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

1 citing paper in PubMed.

  1. 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

17 authors.

Cristina Andrés-ZayasGenomics Unit, Gregorio Marañón General University Hospital, Gregorio Marañón Health Research Institute (IiSGM), 28009 Madrid, Spain.
Julia Suárez-GonzálezGenomics Unit, Gregorio Marañón General University Hospital, Gregorio Marañón Health Research Institute (IiSGM), 28009 Madrid, Spain.
María Chicano-LavillaGregorio Marañón Health Research Institute (IiSGM), 28009 Madrid, Spain.
Mariana Bastos OreiroGregorio Marañón Health Research Institute (IiSGM), 28009 Madrid, Spain.ORCID 0000-0002-9431-4646
Gabriela Rodríguez-MacíasDepartment of Hematology, Gregorio Marañón General University Hospital, 28007 Madrid, Spain.ORCID 0000-0003-0011-4625
Patricia Font LópezDepartment of Hematology, Gregorio Marañón General University Hospital, 28007 Madrid, Spain.
Santiago Osorio PrendesDepartment of Hematology, Gregorio Marañón General University Hospital, 28007 Madrid, Spain.
Gillen Oarbeascoa RoyuelaGregorio Marañón Health Research Institute (IiSGM), 28009 Madrid, Spain.
Patricia García RamírezDepartment of Hematology, Hospital Universitario Príncipe de Asturias, 28802 Madrid, Spain.ORCID 0000-0003-1471-5018
Rocío Nieves SalgadoDepartment of Hematology, Hospital Universitario Fundación Jiménez Díaz, 28040 Madrid, Spain.
Ignacio Gómez-CenturiónGregorio Marañón Health Research Institute (IiSGM), 28009 Madrid, Spain.
Diego Carbonell MuñozGregorio Marañón Health Research Institute (IiSGM), 28009 Madrid, Spain.ORCID 0000-0003-2960-0301
Paula MuñizGregorio Marañón Health Research Institute (IiSGM), 28009 Madrid, Spain.ORCID 0000-0002-8252-3459
Mi KwonGregorio Marañón Health Research Institute (IiSGM), 28009 Madrid, Spain.ORCID 0000-0002-3855-7774
José Luis Díez-MartínGregorio Marañón Health Research Institute (IiSGM), 28009 Madrid, Spain.
Ismael BuñoGenomics Unit, Gregorio Marañón General University Hospital, Gregorio Marañón Health Research Institute (IiSGM), 28009 Madrid, Spain.ORCID 0000-0003-4931-9170
Carolina Martínez-LapercheGregorio Marañón Health Research Institute (IiSGM), 28009 Madrid, Spain.

Funding

ERDF (FEDER) Funds from the European Commission A way of making EuropeMinistry of Economy and Competitiveness ISCIII-FIS grants PI17/1880, PI20/00521
6 · The paper itself

Abstract

The familial occurrence of hematological malignancies has been underappreciated. Recent studies suggest that up to 15% of adults with myeloid neoplasms carry germline pathogenic variants in cancer-predisposing genes. This study aimed to identify the underlying germline predisposition variant in patients with a strong family or personal onco-hematological history using whole exome sequencing on sixteen uncharacterized individuals. It was carried out in two groups of patients, one with samples available from two affected relatives (Cohort A) and one with available samples from the index case (Cohort B). In Cohort A, six families were characterized. Two families shared variants in genes associated with DNA damage response and involved in cancer development (

Indexed as

cancer susceptibilitygermline mutationhematological malignanciespredisposition syndromeswhole-exome sequencing

Identifiers

PMID36765901
PMCPMC9913276

What OpenQuestion holds

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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.