Evidence map›Paper›PMID 40554495›Full record

ArticlePloS one2025

Genetic profiling of inherited colorectal cancer syndromes in Tunisian patients.

Rania Abdelmaksoud-Dammak, Nihel Ammous-Boukhris, Amena Saadallah-Kallel, Dorra Ben Ayed-Guerfali, Souhir Guidara, Imen Miladi-Abdennadher, Ikhlas Ben Ayed, Hassen Kamoun, Slim Charfi, Tahya Sellami-Boudawara and 4 more

Abstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in PloS one, 2025. 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. Article
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.

Rania Abdelmaksoud-DammakCenter of Biotechnology of Sfax, Laboratory of Eukaryotes Molecular Biotechnology. University of Sfax, Sfax, Tunisia.
Nihel Ammous-BoukhrisCenter of Biotechnology of Sfax, Laboratory of Eukaryotes Molecular Biotechnology. University of Sfax, Sfax, Tunisia.
Amena Saadallah-KallelCenter of Biotechnology of Sfax, Laboratory of Eukaryotes Molecular Biotechnology. University of Sfax, Sfax, Tunisia.
Dorra Ben Ayed-GuerfaliCenter of Biotechnology of Sfax, Laboratory of Eukaryotes Molecular Biotechnology. University of Sfax, Sfax, Tunisia.
Souhir GuidaraDepartment of Human Genetics, Hedi Chaker Hospital, University of Sfax, Sfax, Tunisia.
Imen Miladi-AbdennadherCenter of Biotechnology of Sfax, Laboratory of Eukaryotes Molecular Biotechnology. University of Sfax, Sfax, Tunisia.
Ikhlas Ben AyedDepartment of Human Genetics, Hedi Chaker Hospital, University of Sfax, Sfax, Tunisia.
Hassen KamounDepartment of Human Genetics, Hedi Chaker Hospital, University of Sfax, Sfax, Tunisia.
Slim CharfiDepartment of Anatomo-pathology, Habib Bourguiba Hospital, University of Sfax, Sfax, Tunisia.
Tahya Sellami-BoudawaraDepartment of Anatomo-pathology, Habib Bourguiba Hospital, University of Sfax, Sfax, Tunisia.
Imen ZribiDepartment of Surgery, Habib Bourguiba Hospital, University of Sfax, Sfax, Tunisia.
Foued FrikhaDepartment of Surgery, Habib Bourguiba Hospital, University of Sfax, Sfax, Tunisia.
Salah BoujelbeneDepartment of Surgery, Habib Bourguiba Hospital, University of Sfax, Sfax, Tunisia.
Raja Mokdad-GargouriCenter of Biotechnology of Sfax, Laboratory of Eukaryotes Molecular Biotechnology. University of Sfax, Sfax, Tunisia.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

objectiveColorectal cancer (CRC) is among the most commonly diagnosed cancers worldwide, with 2% to 5% of cases being linked to inherited syndromes. MATERIAL AND

methodsA cohort of 30 Tunisian patients was selected and divided into two groups based on clinical features and family history: Group 1 included patients clinically diagnosed with hereditary polyposis syndromes, including MUTYH-Associated Polyposis (MAP: 15 cases) and Familial Adenomatous Polyposis (FAP: 5 cases). Group 2 consisted of patients clinically diagnosed with non-polyposis syndromes, including Lynch Syndrome (LS: 7 cases) and other rare syndromes (OS: 3 cases). Genetic testing was performed using either Sanger sequencing or targeted next-generation sequencing (NGS) with a cancer panel including 31 cancer-related genes.

resultsIn Group 1, MAP was confirmed in 13 patients who were homozygous carriers of the pathogenic variant (c.1143_1144dup p.Glu382fs) in the MUTYH gene. For patients suspected of having FAP, pathogenic variants in the APC gene were identified in only two patients (c.3183_3187del p.Lys1061_Gln1062insTer, and c.2016_2017del p.His672Ter), while another patient carried a frameshift variant (c.502_503del, p.Ile168SerTer11) in the PTEN gene, indicating Cowden Syndrome. In Group 2, genetic testing confirmed Peutz-Jeghers Syndrome in a young girl who had a large deletion in the STK11 gene. For patients suspected to have LS, only variants of unknown significance (VUS) were identified in MMR. Further genetic investigations are required to identify the pathogenic variant in these patients.

conclusionOverall, our results highlight the importance of genetic testing to better understand hereditary CRC syndromes in Tunisian families, and to improve the management of patients and their relatives.

Indexed as

Adenomatous Polyposis ColiColorectal NeoplasmsNeoplastic Syndromes, HereditaryAdolescentAdultAgedColorectal Neoplasms, Hereditary NonpolyposisDNA GlycosylasesFemaleGenetic Predisposition to DiseaseGenetic TestingHigh-Throughput Nucleotide SequencingHumansMaleMiddle AgedProtein Serine-Threonine KinasesDNA GlycosylasesmutY adenine glycosylaseProtein Serine-Threonine Kinases

Identifiers

PMID40554495
PMCPMC12186982

What OpenQuestion holds

Textmetadata
LicenceCC BY
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.