ArticleProceedings of the National Academy of Sciences of the United States of America2002
Whole-gene APC deletions cause classical familial adenomatous polyposis, but not attenuated polyposis or "multiple" colorectal adenomas.
Article in Proceedings of the National Academy of Sciences of the United States of America, 2002. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 59 papers.
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59 citing papers in PubMed, 134 citations in OpenAlex.
- A Rare T-Cell Factor 4 Lineage-negative Epithelial Stem Cell Supports Wound Repair and APC-deletion-induced Colon Tumorigenesis.bioRxiv : the preprint server for biology · 2026Article
- Genetics, genomics and clinical features of adenomatous polyposis.Familial cancer · 2025Review
- Predictive modeling for the germline pathogenic variant of the APC gene in patients with adenomatous polyposis: proposing a new APC score.Surgery today · 2025Article
- High-resolution genetic analysis of whole APC gene deletions: a report of two cases and patient characteristics.Human genome variation · 2024Article
- Cellular and molecular events in colorectal cancer: biological mechanisms, cell death pathways, drug resistance and signalling network interactions.Discover oncology · 2024Review
- The Impact ofCancers · 2023Article
- Case report: Three novel variants on SLC25A13 in four infants with neonatal intrahepatic cholestasis caused by citrin deficiency.Frontiers in pediatrics · 2023Article
- APC germline variant analysis in the adenomatous polyposis phenotype in Japanese patients.International journal of clinical oncology · 2021Article
- Colorectal Cancer Genetics, Incidence and Risk Factors: In Search for Targeted Therapies.Cancer management and research · 2020Review
- A Review on Dietary Intervention in Obesity Associated Colon CancerAsian Pacific journal of cancer prevention : APJCP · 2019Review
- A novel large germ line deletion in adenomatous polyposis coli (APC) gene associated with familial adenomatous polyposis.Molecular genetics & genomic medicine · 2018Article
- Colorectal Cancer Screening: A Comprehensive Review to Recent Non-Invasive Methods.International journal of hematology-oncology and stem cell research · 2017Review
- Tumor suppressor genes in familial adenomatous polyposis.Gastroenterology and hepatology from bed to bench · 2017Review
- High-resolution melting (HRM) re-analysis of a polyposis patients cohort reveals previously undetected heterozygous and mosaic APC gene mutations.Familial cancer · 2015Article
- Diagnosis, surveillance, and treatment strategies for familial adenomatous polyposis: rationale and update.European journal of gastroenterology & hepatology · 2014Review
- Detection of large deletions in the VHL gene using a Real-Time PCR with SYBR Green.Familial cancer · 2013Article
- Molecular pathways involved in colorectal cancer: implications for disease behavior and prevention.International journal of molecular sciences · 2013Review
- More than two decades of Apc modeling in rodents.Biochimica et biophysica acta · 2013Review
- Understanding phenotypic variation in rodent models with germline Apc mutations.Cancer research · 2013Review
- Gene Dosage Analysis in a Clinical Environment: Gene-Targeted Microarrays as the Platform-of-Choice.Microarrays (Basel, Switzerland) · 2013Article
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Authors and funding
21 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Familial adenomatous polyposis (FAP) is a dominantly inherited colorectal tumor predisposition that results from germ-line mutations in the APC gene (chromosome 5q21). FAP shows substantial phenotypic variability: classical polyposis patients develop more than 100 colorectal adenomas, whereas those with attenuated polyposis (AAPC) have fewer than 100 adenomas. A further group of individuals, so-called "multiple" adenoma patients, have a phenotype like AAPC, with 3-99 polyps throughout the colorectum, but mostly have no demonstrable germ-line APC mutation. Routine mutation detection techniques fail to detect a pathogenic APC germ-line mutation in approximately 30% of patients with classical polyposis and 90% of those with AAPC/multiple adenomas. We have developed a real-time quantitative multiplex PCR assay to detect APC exon 14 deletions. When this technique was applied to a set of 60 classical polyposis and 143 AAPC/multiple adenoma patients with no apparent APC germ-line mutation, deletions were found exclusively in individuals with classical polyposis (7 of 60, 12%). Fine-mapping of the region suggested that the majority (6 of 7) of these deletions encompassed the entire APC locus, confirming that haploinsufficiency can result in a classical polyposis phenotype. Screening for germ-line deletions in APC mutation-negative individuals with classical polyposis seems warranted.
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