Evidence map›Paper›PMID 38687438›Full record

ArticleFamilial cancer2024

Strategies for diagnosis and management of CMMRD in low-resource countries: report of a Tunisian family.

Rania Abdelmaksoud-Dammak, Nihel Ammous-Boukhris, Dorra BenAyed-Guerfali, Yassine Gdoura, Imen Boujelben, Souhir Guidara, Slim Charfi, Wiem Boudabbous, Saloua Ammar, Wiem Rhaiem and 5 more

Abstract readCase Reports
PubMed Publisher
In one paragraph

Article in Familial cancer, 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

15 authors.

Rania Abdelmaksoud-DammakDepartment of Cancer Genetics, Laboratory of Molecular Biotechnology of Eukaryotes, Center of Biotechnology of Sfax, University of Sfax BPK 1177, Sfax, 3018, Tunisia.
Nihel Ammous-BoukhrisDepartment of Cancer Genetics, Laboratory of Molecular Biotechnology of Eukaryotes, Center of Biotechnology of Sfax, University of Sfax BPK 1177, Sfax, 3018, Tunisia.
Dorra BenAyed-GuerfaliDepartment of Cancer Genetics, Laboratory of Molecular Biotechnology of Eukaryotes, Center of Biotechnology of Sfax, University of Sfax BPK 1177, Sfax, 3018, Tunisia.
Yassine GdouraDepartment of Neurosurgery, Habib Bourguiba Hospital, University of Sfax, Sfax, Tunisia.
Imen BoujelbenDepartment of Human Genetics, Hedi Chaker Hospital, University of Sfax, Sfax, Tunisia.
Souhir GuidaraDepartment of Human Genetics, Hedi Chaker Hospital, University of Sfax, Sfax, Tunisia.
Slim CharfiDepartment of Anatomopathology, Habib Bourguiba Hospital, University of Sfax, Sfax, Tunisia.
Wiem BoudabbousDepartment of Neurosurgery, Habib Bourguiba Hospital, University of Sfax, Sfax, Tunisia.
Saloua AmmarDepartment of Pediatric Surgery, Hedi Chaker Hospital, University of Sfax, Sfax, Tunisia.
Wiem RhaiemDepartment of Pediatric Surgery, Hedi Chaker Hospital, University of Sfax, Sfax, Tunisia.
Mohamed Zaher BoudawaraDepartment of Neurosurgery, Habib Bourguiba Hospital, University of Sfax, Sfax, Tunisia.
Hassen KamounDepartment of Human Genetics, Hedi Chaker Hospital, University of Sfax, Sfax, Tunisia.
Tahya Sallemi-BoudawaraDepartment of Anatomopathology, Habib Bourguiba Hospital, University of Sfax, Sfax, Tunisia.
Riadh MhiriDepartment of Pediatric Surgery, Hedi Chaker Hospital, University of Sfax, Sfax, Tunisia.
Raja Mokdad-GargouriDepartment of Cancer Genetics, Laboratory of Molecular Biotechnology of Eukaryotes, Center of Biotechnology of Sfax, University of Sfax BPK 1177, Sfax, 3018, Tunisia. raja.gargouri@cbs.rnrt.tn.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Constitutional Mismatch Repair Deficiency (CMMRD) is a rare childhood cancer predisposition syndrome, caused by biallelic pathogenic germline variants in the mismatch repair genes. Diagnosis and management of this syndrome is challenging, especially in low-resource settings. This study describes a patient diagnosed with colorectal cancer and grade 3 astrocytoma at the age of 11 and 12 respectively. Immunohistochemistry analysis showed a loss of MSH2 and MSH6 protein expression in CRC tissues of the patient. We identified by Targeted Exome Sequencing a homozygous pathogenic germline variant in exon 9 of the MSH6 gene (c.3991 C > T; p.Ala1268Glyfs*6). Genetic investigation of the family showed that the father was heterozygous for the identified pathogenic variant while the brother was wild type for this variant. Our study highlights the importance of a correct and timely diagnosis of CMMRD which can have implications for treatment. It also underlines the imperative need to enhance awareness, diagnostic standards, and surveillance that are crucial for patients and their families.

Indexed as

Germ-Line MutationNeoplastic Syndromes, HereditaryPedigreeAstrocytomaBrain NeoplasmsChildColorectal NeoplasmsDeveloping CountriesDNA-Binding ProteinsExome SequencingFemaleHumansMaleMutS Homolog 2 ProteinTunisiaDNA-Binding ProteinsG-T mismatch-binding proteinMSH2 protein, humanMutS Homolog 2 ProteinCMMRD syndromeColorectal cancerHigh grade GliomaLynch syndromeMismatch repair gene

Identifiers

PMID38687438

What OpenQuestion holds

Textmetadata
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.