Evidence map›Paper›PMID 39519399›Full record

ArticleInternational journal of molecular sciences2024

Germline Variants in DNA Interstrand-Cross Link Repair Genes May Contribute to Increased Susceptibility for Serrated Polyposis Syndrome.

Patrícia Silva, Inês Francisco, Bruno Filipe, Pedro Lage, Isadora Rosa, Sofia Fernandes, Ricardo Fonseca, Paula Rodrigues, Joana Parreira, Isabel Claro and 1 more

Abstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in International journal of molecular sciences, 2024. 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

11 authors.

Patrícia SilvaMolecular Pathobiology Research Unit (UIPM), Instituto Português de Oncologia de Lisboa Francisco Gentil E.P.E. (IPOLFG, EPE), Rua Professor Lima Basto, 1099-023 Lisbon, Portugal.ORCID 0000-0002-3713-8770
Inês FranciscoMolecular Pathobiology Research Unit (UIPM), Instituto Português de Oncologia de Lisboa Francisco Gentil E.P.E. (IPOLFG, EPE), Rua Professor Lima Basto, 1099-023 Lisbon, Portugal.ORCID 0000-0002-0214-5524
Bruno FilipeMolecular Pathobiology Research Unit (UIPM), Instituto Português de Oncologia de Lisboa Francisco Gentil E.P.E. (IPOLFG, EPE), Rua Professor Lima Basto, 1099-023 Lisbon, Portugal.ORCID 0000-0002-3984-6885
Pedro LageGastroenterology Department, Instituto Português de Oncologia de Lisboa Francisco Gentil E.P.E. (IPOLFG, EPE), Rua Professor Lima Basto, 1099-023 Lisbon, Portugal.ORCID 0000-0002-2408-6211
Isadora RosaGastroenterology Department, Instituto Português de Oncologia de Lisboa Francisco Gentil E.P.E. (IPOLFG, EPE), Rua Professor Lima Basto, 1099-023 Lisbon, Portugal.
Sofia FernandesFamilial Cancer Clinic, Instituto Português de Oncologia de Lisboa Francisco Gentil E.P.E. (IPOLFG, EPE), Rua Professor Lima Basto, 1099-023 Lisbon, Portugal.
Ricardo FonsecaPathology Department, Instituto Português de Oncologia de Lisboa Francisco Gentil E.P.E. (IPOLFG, EPE), Rua Professor Lima Basto, 1099-023 Lisbon, Portugal.ORCID 0000-0002-4087-9940
Paula RodriguesFamilial Cancer Clinic, Instituto Português de Oncologia de Lisboa Francisco Gentil E.P.E. (IPOLFG, EPE), Rua Professor Lima Basto, 1099-023 Lisbon, Portugal.ORCID 0000-0002-8388-4272
Joana ParreiraFamilial Cancer Clinic, Instituto Português de Oncologia de Lisboa Francisco Gentil E.P.E. (IPOLFG, EPE), Rua Professor Lima Basto, 1099-023 Lisbon, Portugal.
Isabel ClaroGastroenterology Department, Instituto Português de Oncologia de Lisboa Francisco Gentil E.P.E. (IPOLFG, EPE), Rua Professor Lima Basto, 1099-023 Lisbon, Portugal.
Cristina AlbuquerqueMolecular Pathobiology Research Unit (UIPM), Instituto Português de Oncologia de Lisboa Francisco Gentil E.P.E. (IPOLFG, EPE), Rua Professor Lima Basto, 1099-023 Lisbon, Portugal.ORCID 0000-0002-9707-0317

Funding

Instituto Português de Oncologia de Lisboa, E.P.E. and Liga Portuguesa Contra o Cancro UIC829Núcleo Regional do Sul - Liga Portuguesa Contra o Cancro NRS/LPCC_2007Televisão Independente, S.A. N/A
6 · The paper itself

Abstract

Serrated polyposis syndrome (SPS) is characterized by the development of multiple colorectal serrated polyps and increased predisposition to colorectal cancer (CRC). However, the molecular basis of SPS, especially in cases presenting family history of SPS and/or polyps and/or CRC in first-degree relatives (SPS-FHP/CRC), is still poorly understood. In a previous study, we proposed the existence of two molecular entities amongst SPS-FHP/CRC families, proximal/whole-colon and distal SPS-FHP/CRC, according to the preferential location of lesions and somatic events involved in tumor initiation. In the present study, we aimed to investigate these distinct subgroups of SPS patients in a larger cohort at the germline level and to identify the genetic defects underlying an inherited susceptibility for these two entities. Next-generation sequencing was performed using multigene analysis with a custom-designed panel in a Miseq platform in 60 SPS patients (with and without/unknown FHP/CRC). We found germline pathogenic variants in 6/60 patients (

Indexed as

DNA RepairGenetic Predisposition to DiseaseGerm-Line MutationAdenomatous Polyposis ColiAdultAgedColorectal NeoplasmsFemaleHigh-Throughput Nucleotide SequencingHumansMaleMiddle AgedDNA interstrand-cross link repairserrated polyposis syndrome

Identifiers

PMID39519399
PMCPMC11546920

What OpenQuestion holds

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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.