ArticleJournal of applied genetics2008
APC gene mutations causing familial adenomatous polyposis in Polish patients.
Article in Journal of applied genetics, 2008. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 28 papers.
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Who cites it
28 citing papers in PubMed, 41 citations in OpenAlex.
- The genetic puzzle of FAP: exploring novel diagnostic approaches for APC/MUTYH-negative case.Hereditary cancer in clinical practice · 2025Review
- Molecular markers associated with elevated colorectal cancer risk: a mini review.Hereditary cancer in clinical practice · 2025Review
- De novo familial adenomatous polyposis with germline double heterozygosity of APC/BRCA2: a case report and literature review.Hereditary cancer in clinical practice · 2025Article
- Germline mutations of the adenomatous polyposis coli (APC) gene in Algerian familial adenomatous polyposis cohort: first report.Molecular biology reports · 2022Article
- The Mutation Spectrum and Two Novel Point Mutations in the APC Gene in Vietnamese Patients with Familial Adenomatous Polyposis.Asian Pacific journal of cancer prevention : APJCP · 2022Article
- 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
- Article
- Mutational Analysis of a Familial Adenomatous Polyposis Pedigree with Bile Duct Polyp Phenotype.Canadian journal of gastroenterology & hepatology · 2021Article
- A Case of Adult Pancreatoblastoma With NovelFrontiers in oncology · 2021Article
- PathogenicMedicina (Kaunas, Lithuania) · 2019Article
- Advances in Identification of Susceptibility Gene Defects of Hereditary Colorectal Cancer.Journal of Cancer · 2019Review
- Mutation Spectrum of Cancer-Associated Genes in Patients With Early Onset of Colorectal Cancer.Frontiers in oncology · 2019Article
- First-decade patient with colorectal cancer carrying both germline and somatic mutations in APC gene.BMC cancer · 2017Article
- Exploitation of Gene Expression and Cancer Biomarkers in Paving the Path to Era of Personalized Medicine.Genomics, proteomics & bioinformatics · 2017Review
- Novel mutations and phenotypic associations identified through APC, MUTYH, NTHL1, POLD1, POLE gene analysis in Indian Familial Adenomatous Polyposis cohort.Scientific reports · 2017Article
- A novel pathogenic splice acceptor site germline mutation in intron 14 of the APC gene in a Chinese family with familial adenomatous polyposis.Oncotarget · 2017Article
- Tumor suppressor genes in familial adenomatous polyposis.Gastroenterology and hepatology from bed to bench · 2017Review
- A novel pathogenic large germline deletion in adenomatous polyposis coli gene in a Chinese family with familial adenomatous polyposis.Oncotarget · 2016Article
- Contribution of APC and MUTYH mutations to familial adenomatous polyposis susceptibility in Hungary.Familial cancer · 2016Article
- Prognostic and predictive biomarkers: tools in personalized oncology.Molecular diagnosis & therapy · 2014Review
Corrections and comments
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Authors and funding
2 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Familial adenomatous polyposis (FAP) is a well-known hereditary condition characterised by alimentary system tumours. Tens to thousands of polyps occur in the colon and rectum of the patients. There is a high heterogeneity with regard to the number and time of the occurrence of polyps. The occurrence of FAP is associated with mutations in the APC tumour suppressor gene, which was described in 1991. Since then, many studies have been done to analyse the distribution of mutations in individual populations and to determine the function of the gene and a diagnostic approach to FAP. Here the APC gene was studied with respect to the occurrence of small mutations and large rearrangements in 300 unrelated Polish FAP families. Ninety-seven mutations were identified in 164 families. Out of these mutations, 80 were small mutations, including 58 small mutations that were first identified in the Polish population (42 novel and 16 described previously). An increased frequency of mutation c.3927_3931delAAAGA was observed in 10% of the Polish group. Seventeen large rearrangements were found in 29 families. Out of those rearrangements, 8 repeat rearrangements occurred in 20 families. A problem in fast molecular diagnostics of FAP is a high heterogeneity of mutations in the APC gene. It seems that a multiplex ligation-dependent probe amplification test and searching for small mutations by the use of screening methods at the 5' end of exon 15 and exons 14, 9, 11, 13, 5, and 3, help to improve the molecular diagnostics of FAP in Polish patients.
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