Evidence map›Paper›PMID 41386845›Full record

ArticleJournal, genetic engineering & biotechnology2025

Identifying actionable genetic mutations and microsatellite instability in liquid biopsy of colorectal cancer.

Neemat M Kassem, Mohamed G Seadawy, Maha Gaafar, Hebatallah A Kassem, Amira Farouk Ahmed Hussein, Enas M Ali Rizk, Marwa A Hassan, Riham H AbdelAziz, Mentallah M Abdelradi, Mostafa F El-Hosseny and 2 more

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Article in Journal, genetic engineering & biotechnology, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.

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1 · What the graph read from it

What it found

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2 · The registry

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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.

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4 · The record

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5 · Who and what money

Authors and funding

12 authors.

Neemat M KassemClinical & Chemical Pathology Dep., Kasr Al-Ainy Centre of Clinical Oncology & Nuclear Medicine, School of Medicine, Cairo University, Cairo, Egypt. Electronic address: nkkassem@hotmail.com.
Mohamed G SeadawyBiological Prevention Dep., Ministry of Defense, Egypt. Electronic address: biologist202054@yahoo.com.
Maha GaafarClinical & Chemical Pathology Dep., School of Medicine, Cairo University, Cairo, Egypt. Electronic address: Gaafar.maha@yahoo.co.uk.
Hebatallah A KassemClinical & Chemical Pathology Dep., Kasr Al-Ainy Centre of Clinical Oncology & Nuclear Medicine, School of Medicine, Cairo University, Cairo, Egypt. Electronic address: Heba.kasem@hotmail.com.
Amira Farouk Ahmed HusseinClinical & Chemical Pathology Dep., School of Medicine, Cairo University, Cairo, Egypt. Electronic address: Amira.farouk@kasralainy.edu.eg.
Enas M Ali RizkParasitology Dep., School of Medicine, Cairo University, Cairo, Egypt. Electronic address: enasrizk@kasralainy.edu.eg.
Marwa A HassanParasitology Dep., School of Medicine, Cairo University, Cairo, Egypt. Electronic address: mahassan@kasralainy.edu.eg.
Riham H AbdelAzizBiological Prevention Dep., Ministry of Defense, Egypt. Electronic address: rihamhany@kasralainy.edu.eg.
Mentallah M AbdelradiBiological Prevention Dep., Ministry of Defense, Egypt. Electronic address: Dr.tma10@gmail.com.
Mostafa F El-HossenyBiological Prevention Dep., Ministry of Defense, Egypt. Electronic address: mfm.memo@gmail.com.
Mohamed AbdullaClinical Oncology Dep., School of Medicine, Cairo University, Cairo, Egypt. Electronic address: mohamed.abdulla@oncology.clinic.org.
Rabab Abdel MoneimClinical Oncology Dep., School of Medicine, Cairo University, Cairo, Egypt. Electronic address: dr.rababahmed2014@hotmail.com.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

introductionColorectal cancer (CRC) is a molecularly diverse disorder arising from gradual accumulation of genetic and epigenetic changes giving interest in characterization of genetic alterations and microsatellite instability (MSI) for identification of new personalized therapeutic targets.

objectivesEvaluating the incidence of somatic mutations in clinically relative signaling pathways involved in CRC tumorigenesis that include mainly Wnt and MAPK pathways together with MSI and gut microbiota.

methodsTwenty four CRC patients were enrolled in the study. Cancer hotspot V2 panel was tested using targeted NGS on MiSeqDx device in addition to MSI identification, also gut microbiota was detected using conventional techniques. Patients received FOLFOX regimen in addition to Xeloda especially in early stages.

resultsNon-synonymous genetic variants were detected inTP53, PIK3CA, KDR, KIT, APC, FGFR3 and MET. Twelve patients (50%) had MSI-LO, 25% had MSI-HI and 20.8% were MSS. Missense mutations in PIK3CA, TP53, and KDR were identified in 2, 3, and 2 patients with MSI-HI status, respectively. In MSI-LO, missense alterations in PIK3CA, TP53, KIT, and KDR were detected in (6, 11, 3, 2 cases, respectively). More than 50% of examined patients revealed mixed GIT flora, 18.8% of patients had E. Coli, 12.5% of patients showed Klebsiella spp. and only 6.3 % of patient revealed Proteus spp. H. pylori antigen was detected in 37.5%of patients and Blastocystis hominis cysts in only 4 patients.

conclusionCRC genetic mutational statuses as well as contributing environmental stress factors such as gut microbiota dysbiosis are prognostically crucial, associated with high risk potential of gene-environment interactions based on machine learning.

Indexed as

Activating mutationsColorectal cancerGut microbiota & protists infectionsMicrosatellite instabilityNext generation sequencing

Identifiers

PMID41386845
PMCPMC12552952

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LicenceCC BY-NC-ND
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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.