ArticleMolecular medicine reports2018
A novel APC mutation identified in a large Chinese family with familial adenomatous polyposis and a brief literature review.
Article in Molecular medicine reports, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 6 papers.
What it found
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Who cites it
6 citing papers in PubMed, 7 citations in OpenAlex.
- First Evidence of Familial Transmission of Hereditary Gastrointestinal Polyposis Associated with GermlineVeterinary sciences · 2023Article
- Mutational screening through comprehensive bioinformatics analysis to detect novel germline mutations in the APC gene in patients with familial adenomatous polyposis (FAP).Journal of clinical laboratory analysis · 2021Article
- A distinct APC pathogenic germline variant identified in a southern Thai family with familial adenomatous polyposis.BMC medical genomics · 2021Article
- Novel compound heterozygous DNAAF2 mutations cause primary ciliary dyskinesia in a Han Chinese family.Journal of assisted reproduction and genetics · 2020Article
- Novel compound heterozygous PKHD1 mutations cause autosomal recessive polycystic kidney disease in a Han Chinese family.Molecular medicine reports · 2019Article
- Advances in Identification of Susceptibility Gene Defects of Hereditary Colorectal Cancer.Journal of Cancer · 2019Review
Corrections and comments
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Authors and funding
12 authors at 3 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Familial adenomatous polyposis (FAP), an autosomal dominant disease, is a colon cancer predisposition syndrome that manifests as a large number of adenomatous polyps. Mutations in the Adenomatous polyposis coli (APC) gene are responsible for the majority of cases of FAP. The purpose of the present study was to report the clinical features of a Chinese family with FAP and screen for novel mutations using the targeted next‑generation sequencing technology. Among the 29 family members, 12 were diagnosed of FAP. Based on an established filtering strategy and data analyses, along with confirmation by Sanger sequencing and co‑segregation, a novel frameshift mutation c.1317delA (p.Ala440LeufsTer14) in exon 10 of the APC gene was identified. To the best of our knowledge, this mutation has not been reported prior to the present study. In addition, it was correlated with extra‑colonic phenotypes featuring duodenal polyposis and sebaceous cysts in this family. This novel frameshift mutation causing FAP not only expands the germline mutation spectrum of the APC gene in the Chinese population, but it also increases the understanding of the phenotypic and genotypic correlations of FAP, and may potentially lead to improved genetic counseling and specific treatment for families with FAP in the future.
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