ArticleF1000Research2015
Characterization of an APC Promoter 1B deletion in a Patient Diagnosed with Familial Adenomatous Polyposis via Whole Genome Shotgun Sequencing.
Article in F1000Research, 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 5 papers.
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Who cites it
5 citing papers in PubMed, 5 citations in OpenAlex.
- Analysis ofFrontiers in oncology · 2026Article
- The Progress of Colorectal Polyposis Syndrome in Chinese Population.Clinics in colon and rectal surgery · 2023Review
- Constitutional chromothripsis of theJournal of medical genetics · 2022Article
- Reduced expression of APC-1B but not APC-1A by the deletion of promoter 1B is responsible for familial adenomatous polyposis.Scientific reports · 2016Article
- Characterization of an APC Promoter 1B deletion in a Patient Diagnosed with Familial Adenomatous Polyposis via Whole Genome Shotgun Sequencing.F1000Research · 2015Article
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Authors and funding
6 authors at 3 institutions in 1 country.
Funding
Abstract
Recently, deletions have been identified and published as causal for Familial Adenomatous Polyposis in the 1B promoter region of the APC gene. Those deletions were measured using multiplex ligation-dependent probe amplification. Here, we present and characterize an ~11kb deletion identified by whole genome shotgun sequencing. The deletion occurred in a patient diagnosed with Familial Adenomatous Polyposis, and was located on chr5, between bases 112,034,824 and 112,045,845, fully encompassing the 1B promoter region of the APC gene. Results are presented here that include the sequence evidence supporting the presence of the deletion as well as base level characterization of the deletion site. These results demonstrate the capacity of whole genome sequencing for the detection of large structural variants in single individuals.
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