ArticleInternational journal of molecular and cellular medicine2014
Frameshift Mutations (Deletion at Codon 1309 and Codon 849) in the APC Gene in Iranian FAP Patients: a Case Series and Review of the Literature.
Article in International journal of molecular and cellular medicine, 2014. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 10 papers.
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Who cites it
10 citing papers in PubMed.
- Germline variants in patients from the Iranian hereditary colorectal cancer registry.Cancer cell international · 2025Article
- Mutational screening through comprehensive bioinformatics analysis to detect novel germline mutations in the APC gene in patients with familial adenomatous polyposis (FAP).Journal of clinical laboratory analysis · 2021Article
- Mutational Analysis of a Familial Adenomatous Polyposis Pedigree with Bile Duct Polyp Phenotype.Canadian journal of gastroenterology & hepatology · 2021Article
- Synonymous mutation adenomatous polyposis coliΔ486s affects exon splicing and may predispose patients to adenomatous polyposis coli/mutY DNA glycosylase mutation‑negative familial adenomatous polyposis.Molecular medicine reports · 2018Article
- Gut microbiota, epigenetic modification and colorectal cancer.Iranian journal of microbiology · 2017Review
- Tumor suppressor genes in familial adenomatous polyposis.Gastroenterology and hepatology from bed to bench · 2017Review
- Low Level of Microsatellite Instability Correlates with Poor Clinical Prognosis in Stage II Colorectal Cancer Patients.Journal of oncology · 2016Article
- Cronkhite- Canada syndrome; a case report and review of the literature.Gastroenterology and hepatology from bed to bench · 2016Article
- Prognostic Significance of Nuclear β-Catenin Expression in Patients with Colorectal Cancer from Iran.Iranian Red Crescent medical journal · 2015Article
- Colorectal cancer in iran: molecular epidemiology and screening strategies.Journal of cancer epidemiology · 2015Review
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Authors and funding
6 authors.
Funding
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Abstract
Familial adenomatous polyposis (FAP) is responsible for <1% of colorectal cancer (CRC) cases and is inherited an autosomal dominant trait. Patients generally present hundreds to thousands of adenomas and develop colorectal cancer by age 35- 40 if left untreated. Here we report four patients with germline frameshift mutation (small deletion) at exon 15 of adenomatous polyposis coli (APC) tumor suppressor gene. Peripheral blood samples were collected from patients and Exon 15 of the APC gene was studied by direct sequencing after genomic DNA extraction. Four frameshift mutations were detected. Two patients had 5 bp deletion, c.3927_3931delAAAGA and two siblings presented deletion at codon 849 (c.2547_2548delTA p.Asp849fsX62). This study was the first report of genetic screening in Iranian FAP patients. In contrast to other studies we revealed that one patient with mutation at codon 1309 had an attenuated phenotype.
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25317407PMC4170494What OpenQuestion holds
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