ArticleFamilial cancer2004
Intron 4 mutation in APC gene results in splice defect and attenuated FAP phenotype.
Article in Familial cancer, 2004. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 20 papers, 1 of them a synthesis that pooled it.
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Who cites it
20 citing papers in PubMed, 1 synthesis or guideline pooled it, 37 citations in OpenAlex.
- Meta-analysis of gene expression profiles indicates genes in spliceosome pathway are up-regulated in hepatocellular carcinoma (HCC).Medical oncology (Northwood, London, England) · 2015Pooled it
- RegSNPs-intron: a computational framework for predicting pathogenic impact of intronic single nucleotide variants.Genome biology · 2019Article
- Burkitt-like lymphoma in a pediatric patient with familial adenomatous polyposis.Cancer genetics · 2019Article
- Review
- Alternative splicing within the Wnt signaling pathway: role in cancer development.Cellular oncology (Dordrecht, Netherlands) · 2016Review
- An atypical presentation of small bowel obstruction and perforation secondary to sporadic synchronous intra-abdominal desmoid tumours.International journal of surgery case reports · 2016Article
- Tissue Restricted Splice Junctions Originate Not Only from Tissue-Specific Gene Loci, but Gene Loci with a Broad Pattern of Expression.PloS one · 2015Article
- Novel mutations of the APC gene and genetic consequences of splicing mutations in the Czech FAP families.Familial cancer · 2013Article
- Motifs within the CA-repeat-rich region of Surfactant Protein B (SFTPB) intron 4 differentially affect mRNA splicing.Journal of molecular biochemistry · 2013Article
- Alternative splicing for diseases, cancers, drugs, and databases.TheScientificWorldJournal · 2013Review
- Oncogenic alternative splicing switches: role in cancer progression and prospects for therapy.International journal of cell biology · 2013Review
- Shared genomic segment analysis: the power to find rare disease variants.Annals of human genetics · 2012Article
- Alternative splicing and its impact as a cancer diagnostic marker.Genomics & informatics · 2012Article
- Identification of 5 novel germline APC mutations and characterization of clinical phenotypes in Japanese patients with classical and attenuated familial adenomatous polyposis.BMC research notes · 2010Article
- New mutations in the PKD1 gene in Czech population with autosomal dominant polycystic kidney disease.BMC medical genetics · 2009Article
- Functional pre- mRNA trans-splicing of coactivator CoAA and corepressor RBM4 during stem/progenitor cell differentiation.The Journal of biological chemistry · 2009Article
- Alternative splicing and disease.Biochimica et biophysica acta · 2009Review
- Alternative splicing and tumor progression.Current genomics · 2008Article
- Clinical characterization and the mutation spectrum in Swedish adenomatous polyposis families.BMC medicine · 2008Article
- Novel APC mutations in Czech and Slovak FAP families: clinical and genetic aspects.BMC medical genetics · 2007Article
Corrections and comments
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Authors and funding
5 authors at 2 institutions in 1 country.
Funding
Abstract
The adenomatous polyposis coli (APC) protein is a tumor suppressor frequently involved in the development of inherited and sporadic colon cancers. Somatic mutations of the APC gene are found in 80% of all colon cancers. Inherited mutations result in familial adenomatous polyposis (FAP) as well as an attenuated form of this syndrome. FAP is characterized by the early age onset of hundreds to thousands of colonic adenomatous polyps and a virtual certainty of colon cancer unless the colon is removed. The attenuated form of FAP (AFAP) is characterized by fewer adenomas, later onset of adenomas and cancer, and a decreased lifetime cancer risk. We report a 37-year-old man with a history of more than 50 colonic adenomatous polyps, located predominately in the right colon. An insertion of a single thymidine between the second and third base pairs of intron 4 of the APC gene was identified (c.531+2_531+3insT). Monoallelic hybrid cells harboring a single copy of human chromosome 5 were generated from patient lymphoblasts. Sequencing of the APC cDNA product from these cells revealed a single RNA transcript with aberrant splicing in the mutant mRNA whereby exon 4 is deleted. The translational reading frame is shifted after codon 140 and a translational stop is generated predicting a truncated protein of 147 amino acids, thus indicating that the intronic mutation is disease causing. The lack of a secondary transcript from the mutant allele suggests that incomplete exon skipping is not the molecular mechanism behind the attenuated phenotype.
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