Evidence map›Paper›PMID 40282418›Full record

ArticleGenes2025

Genetic Features of Tumours Arising in the Context of Suspected Hereditary Cancer Syndromes with

Mónica Arranz-Ledo, Mar Infante, Enrique Lastra, Amaya Olaverri, Marta Orozco, Lucia C Mateo, Noemí Martínez, Lara Hernández, Mercedes Durán

Abstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in Genes, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 4 papers.

0numbers the graph read from it
0cells of the map it votes in
4citing 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

4 citing papers in PubMed.

  1. The Genetic and Molecular Analyses of Rare Candidate GermlineInternational journal of molecular sciences · 2026
    Article
  2. Article
  3. Review
  4. 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

9 authors.

Mónica Arranz-LedoCancer Genetics Group, Unit of Excellence Institute of Biomedicine and Molecular Genetics (IBGM), University of Valladolid-Spanish National Research Council (UVa-CSIC), C/Sanz y Forés 3, 47003 Valladolid, Spain.ORCID 0000-0002-1707-4001
Mar InfanteCancer Genetics Group, Unit of Excellence Institute of Biomedicine and Molecular Genetics (IBGM), University of Valladolid-Spanish National Research Council (UVa-CSIC), C/Sanz y Forés 3, 47003 Valladolid, Spain.ORCID 0000-0002-7197-5249
Enrique LastraUnit of Genetic Counseling in Cancer, Complejo Hospitalario de Burgos, 09006 Burgos, Spain.
Amaya OlaverriUnit of Genetic Counseling in Cancer, Hospital Universitario Rio Hortega, 47012 Valladolid, Spain.
Marta OrozcoUnit of Genetic Counseling in Cancer, Hospital Universitario Rio Hortega, 47012 Valladolid, Spain.
Lucia C MateoUnit of Genetic Counseling in Cancer, Hospital Universitario Rio Hortega, 47012 Valladolid, Spain.ORCID 0009-0008-4273-1967
Noemí MartínezCancer Genetics Group, Unit of Excellence Institute of Biomedicine and Molecular Genetics (IBGM), University of Valladolid-Spanish National Research Council (UVa-CSIC), C/Sanz y Forés 3, 47003 Valladolid, Spain.
Lara HernándezCancer Genetics Group, Unit of Excellence Institute of Biomedicine and Molecular Genetics (IBGM), University of Valladolid-Spanish National Research Council (UVa-CSIC), C/Sanz y Forés 3, 47003 Valladolid, Spain.
Mercedes DuránCancer Genetics Group, Unit of Excellence Institute of Biomedicine and Molecular Genetics (IBGM), University of Valladolid-Spanish National Research Council (UVa-CSIC), C/Sanz y Forés 3, 47003 Valladolid, Spain.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

BACKGROUND AND

objectivesDespite the well-established role of the BRCA and mismatch repair (MMR) genes in DNA damage repair pathways, a substantial proportion of familial cancer cases still lack pathogenic variants in those genes. Next Generation Sequencing (NGS) panels have emerged as a powerful tool to identify hereditary cancer at-risk individuals and subsequently provide them with accurate management. MATERIALS AND

methodsFamilies harbouring PVs in

resultsWe identified 40 families through molecular reanalysis (33 with Hereditary Breast and Ovarian Cancer (HBOC) and 7 with Lynch Syndrome (LS)), with positive test results among 155 families lacking BRCA or MMR mutations. The most frequently mutated genes after

conclusionsBroader ranges of malignancies, including gastric, lung, and bladder, have been identified among

Indexed as

DNA-Binding ProteinsDNA Repair EnzymesFanconi Anemia Complementation Group ProteinsGerm-Line MutationNeoplastic Syndromes, HereditaryRNA HelicasesAcid Anhydride HydrolasesAdultAgedColorectal Neoplasms, Hereditary NonpolyposisDNA Mismatch RepairFemaleGenetic Predisposition to DiseaseHigh-Throughput Nucleotide SequencingHumansMaleAcid Anhydride HydrolasesBRIP1 protein, humanDNA-Binding ProteinsDNA Repair EnzymesFanconi Anemia Complementation Group ProteinsRAD50 protein, humanRAD51C protein, humanRAD51D protein, humanRNA HelicasesBRIP1 mutationsHereditary Breast and Ovarian CancerLynch Syndromemultigene panel testingmutationsRAD50 mutationsRAD51C/D

Identifiers

PMID40282418
PMCPMC12026886

What OpenQuestion holds

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Registered trials

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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.