Evidence map›Paper›PMID 40901329›Full record

ArticleWorld journal of clinical oncology2025

Mutational profile of a Saudi patient with Familial adenomatous polyposis that progressed to colon cancer: A case report.

Ghada E Esheba, Hala Fm Kamel, Heba Mk Youssef, Hatoon Fm Badawood, Abdullah A Alshamrani, Rehab J Alharbi, Rami Nassir

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PubMed Full text at PMC Publisher
In one paragraph

Article in World journal of clinical oncology, 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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0citing papers in PubMed
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1 · What the graph read from it

What it found

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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

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3 · Its place in the literature

Who cites it

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4 · The record

Corrections and comments

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5 · Who and what money

Authors and funding

7 authors.

Ghada E EshebaDepartment of Histopathology, Security Forces Hospital, Makkah 24251, Saudi Arabia.
Hala Fm KamelDepartment of Biochemistry, Faculty of Medicine, Umm Al-Qura University, Makkah 21955, Saudi Arabia.
Heba Mk YoussefDepartment of Pathology, Faculty of Medicine, Tanta University, Tanta 31527, Al Gharbīyah, Egypt.
Hatoon Fm BadawoodDepartment of Histopathology, Security Forces Hospital, Makkah 24251, Saudi Arabia.
Abdullah A AlshamraniDepartment of Histopathology, Security Forces Hospital, Makkah 24251, Saudi Arabia.
Rehab J AlharbiClinical Laboratories Sciences, College of Applied Medical Sciences, University of Hafr Al Batin, Hafr Al Batin 39524, Saudi Arabia.
Rami NassirDepartment of Pathology, Faculty of Medicine, Umm Al-Qura University, Makkah 21955, Saudi Arabia.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

backgroundFamilial adenomatous polyposis (FAP) is an autosomal dominant syndrome that results from a germline mutation in the adenomatous polyposis coli gene. It is characterized by the early development of hundreds of adenomas in the colon during the second decade of life. If prophylactic colectomy is not performed, most patients eventually develop colorectal cancer (CRC). CASE SUMMARY: We present the mutational profile of a case of FAP that progressed to CRC. A 45-year-old Saudi man presented with intestinal obstruction and underwent a total colectomy. The colon showed hundreds of polyps and two infiltrative ulcerative lesions, which proved to be adenocarcinoma according to histopathology. We performed next-generation sequencing and found mutations in the

conclusionTo the best of our knowledge, this case report is the first to sheds the light on the mutation profile of FAP that progressed to CRC in Saudi Arabia.

Indexed as

AdenomaAdenomatous polyposis coli geneCase reportColorectal cancerFamilial adenomatous polyposisGermline mutationNext generation sequencing

Identifiers

PMID40901329
PMCPMC12400230

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