ArticleScientific reports2016
Reduced expression of APC-1B but not APC-1A by the deletion of promoter 1B is responsible for familial adenomatous polyposis.
Article in Scientific reports, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 14 papers.
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Who cites it
14 citing papers in PubMed, 24 citations in OpenAlex.
- Analysis ofFrontiers in oncology · 2026Article
- Updated genetic testing in individuals with unexplained adenomatous polyposis and the diagnostic yield.Familial cancer · 2025Article
- Exome-based cancer predisposition gene testing can provide a genetic diagnosis for individuals with heterogeneous tumor phenotypes.European journal of human genetics : EJHG · 2025Article
- Assessing the efficacy of target adaptive sampling long-read sequencing through hereditary cancer patient genomes.NPJ genomic medicine · 2024Article
- The Progress of Colorectal Polyposis Syndrome in Chinese Population.Clinics in colon and rectal surgery · 2023Review
- Newly discovered genomic mutation patterns in radiation-induced small intestinal tumors of ApcMin/+ mice.PloS one · 2023Article
- Constitutional chromothripsis of theJournal of medical genetics · 2022Article
- DisPhaseDB: An integrative database of diseases related variations in liquid-liquid phase separation proteins.Computational and structural biotechnology journal · 2022Article
- Endometrial cancer with a POLE mutation progresses frequently through the type I pathway despite its high-grade endometrioid morphology: a cohort study at a single institution in Japan.Medical molecular morphology · 2021Article
- Solid-pseudopapillary neoplasm of the pancreas in a patient with familial adenomatous polyposis: a case report.Surgical case reports · 2021Article
- Germline Structural Variations in Cancer Predisposition Genes.Frontiers in genetics · 2021Review
- MiR-205 mediated APC regulation contributes to pancreatic cancer cell proliferation.World journal of gastroenterology · 2019Article
- Maser: one-stop platform for NGS big data from analysis to visualization.Database : the journal of biological databases and curation · 2018Article
- Hypermethylation of CDKN2A exon 2 in tumor, tumor-adjacent and tumor-distant tissues from breast cancer patients.BMC cancer · 2017Article
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13 authors at 2 institutions in 1 country.
Funding
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Abstract
Germline mutations in the tumor suppressor gene APC are associated with familial adenomatous polyposis (FAP). Here we applied whole-genome sequencing (WGS) to the DNA of a sporadic FAP patient in which we did not find any pathological APC mutations by direct sequencing. WGS identified a promoter deletion of approximately 10 kb encompassing promoter 1B and exon1B of APC. Additional allele-specific expression analysis by deep cDNA sequencing revealed that the deletion reduced the expression of the mutated APC allele to as low as 11.2% in the total APC transcripts, suggesting that the residual mutant transcripts were driven by other promoter(s). Furthermore, cap analysis of gene expression (CAGE) demonstrated that the deleted promoter 1B region is responsible for the great majority of APC transcription in many tissues except the brain. The deletion decreased the transcripts of APC-1B to 39-45% in the patient compared to the healthy controls, but it did not decrease those of APC-1A. Different deletions including promoter 1B have been reported in FAP patients. Taken together, our results strengthen the evidence that analysis of structural variations in promoter 1B should be considered for the FAP patients whose pathological mutations are not identified by conventional direct sequencing.
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