ArticleClinical genetics2015
APC promoter 1B deletion in seven American families with familial adenomatous polyposis.
Article in Clinical genetics, 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 19 papers.
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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.
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Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
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Who cites it
19 citing papers in PubMed, 34 citations in OpenAlex.
- Analysis ofFrontiers in oncology · 2026Article
- The genetic puzzle of FAP: exploring novel diagnostic approaches for APC/MUTYH-negative case.Hereditary cancer in clinical practice · 2025Review
- A novel insertion/deletion in APC promotor 1B is associated with both gastric and colon polyposis.Familial cancer · 2025Article
- The Progress of Colorectal Polyposis Syndrome in Chinese Population.Clinics in colon and rectal surgery · 2023Review
- Constitutional chromothripsis of theJournal of medical genetics · 2022Article
- Gastric Adenocarcinoma and Proximal Polyposis of the Stomach in a Hispanic Pediatric Patient With APC Gene Variant c.-191T>G.JPGN reports · 2021Article
- Candidate Gene Discovery in Hereditary Colorectal Cancer and Polyposis Syndromes-Considerations for Future Studies.International journal of molecular sciences · 2020Review
- Variables affecting penetrance of gastric and duodenal phenotype in familial adenomatous polyposis patients.BMC gastroenterology · 2018Article
- Gastric adenocarcinoma and proximal polyposis of the stomach: diagnosis and clinical perspectives.Clinical and experimental gastroenterology · 2018Review
- Identification a nonsense mutation ofExperimental and therapeutic medicine · 2017Article
- Expanding the genotype-phenotype spectrum in hereditary colorectal cancer by gene panel testing.Familial cancer · 2017Article
- Three novel mutations of APC gene in Chinese patients with familial adenomatous polyposis.Tumour biology : the journal of the International Society for Oncodevelopmental Biology and Medicine · 2016Article
- Reduced expression of APC-1B but not APC-1A by the deletion of promoter 1B is responsible for familial adenomatous polyposis.Scientific reports · 2016Article
- Point Mutations in Exon 1B of APC Reveal Gastric Adenocarcinoma and Proximal Polyposis of the Stomach as a Familial Adenomatous Polyposis Variant.American journal of human genetics · 2016Article
- Contribution of APC and MUTYH mutations to familial adenomatous polyposis susceptibility in Hungary.Familial cancer · 2016Article
- Review
- Novel APC promoter and exon 1B deletion and allelic silencing in three mutation-negative classic familial adenomatous polyposis families.Genome medicine · 2015Article
- Characterization of an APC Promoter 1B deletion in a Patient Diagnosed with Familial Adenomatous Polyposis via Whole Genome Shotgun Sequencing.F1000Research · 2015Article
- The genetic basis of familial adenomatous polyposis and its implications for clinical practice and risk management.The application of clinical genetics · 2015Review
Corrections and comments
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Authors and funding
6 authors at 1 institution in 1 country.
Funding
Abstract
Familial adenomatous polyposis (FAP) is a colorectal cancer predisposition syndrome caused by mutations in the adenomatous polyposis coli (APC) gene. Clinical genetic testing fails to identify disease causing mutations in up to 20% of clinically apparent FAP cases. Following the inclusion of multiplex ligation-dependent probe amplification (MLPA) probes specific for APC promoter 1B, seven probands were identified with a deletion of promoter 1B. Using haplotype analysis spanning the APC locus, the seven families appear to be identical by descent from a common founder. The clinical phenotype of 19 mutation carriers is classical FAP with colectomy at an average age of 24. The majority of cases had a large number of duodenal and gastric polyps. Measurements of allele-specific expression of APC mRNA using TaqMan assay confirmed that relative expression in the allele containing the promoter 1B deletion was reduced 42-98%, depending on tissue type. This study confirms the importance of APC promoter deletions as a cause of FAP and identifies a founder mutation in FAP patients from the United States.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.