ArticleJournal of human genetics2015
Detection of APC mosaicism by next-generation sequencing in an FAP patient.
Article in Journal of human genetics, 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 22 papers, 2 of them syntheses that pooled it.
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Who cites it
22 citing papers in PubMed, 2 syntheses or guidelines pooled it, 35 citations in OpenAlex.
- Genomic mosaicism in colorectal cancer and polyposis syndromes: a systematic review and meta-analysis.International journal of colorectal disease · 2024Pooled it
- Mosaicism in Patients With Colorectal Cancer or Polyposis Syndromes: A Systematic Review.Clinical gastroenterology and hepatology : the official clinical practice journal of the American Gastroenterological Association · 2020Pooled it
- Phosphorylation of PPDPF via IL6-JAK2 activates the Wnt/β-catenin pathway in colorectal cancer.EMBO reports · 2023Article
- Use of sanger and next-generation sequencing to screen for mosaic and intronic APC variants in unexplained colorectal polyposis patients.Familial cancer · 2022Article
- APC germline variant analysis in the adenomatous polyposis phenotype in Japanese patients.International journal of clinical oncology · 2021Article
- Next-generation sequencing with comprehensive bioinformatics analysis facilitates somatic mosaic APC gene mutation detection in patients with familial adenomatous polyposis.BMC medical genomics · 2019Article
- RNA analysis of cancer predisposing genes in formalin-fixed paraffin-embedded tissue determines aberrant splicing.European journal of human genetics : EJHG · 2018Article
- Prenatal DNA Sequencing: Clinical, Counseling, and Diagnostic Laboratory Considerations.Prenatal diagnosis · 2018Review
- Longitudinal analysis of colon crypt stem cell dynamics in sulindac treated Familial Adenomatous Polyposis patients.Scientific reports · 2017Article
- The American Society of Colon and Rectal Surgeons Clinical Practice Guidelines for the Management of Inherited Polyposis Syndromes.Diseases of the colon and rectum · 2017Article
- Postzygotic single-nucleotide mosaicisms contribute to the etiology of autism spectrum disorder and autistic traits and the origin of mutations.Human mutation · 2017Article
- The genetic basis of colonic adenomatous polyposis syndromes.Hereditary cancer in clinical practice · 2017Review
- How does inflammation drive mutagenesis in colorectal cancer?Trends in cancer research · 2017Article
- Hereditary gastrointestinal cancer.Surgery today · 2016Review
- Sequencing-based diagnostics for pediatric genetic diseases: progress and potential.Expert review of molecular diagnostics · 2016Review
- Practical aspects of NGS-based pathways analysis for personalized cancer science and medicine.Oncotarget · 2016Review
- 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
- Sporadic colorectal cancer: Studying ways to an end.United European gastroenterology journal · 2016Article
- Cracking the Code of Human Diseases Using Next-Generation Sequencing: Applications, Challenges, and Perspectives.BioMed research international · 2015Review
Corrections and comments
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Authors and funding
17 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Familial adenomatous polyposis (FAP) of the colon is characterized by multiple polyps in the intestine and extra-colonic manifestations. Most FAP cases are caused by a germline mutation in the tumor-suppressor gene APC, but some cases of adenomatous polyposis result from germline mutations in MUTYH, POLD1 or POLE. Although sequence analysis of APC by the Sanger method is routinely performed for genetic testing, there remain cases whose mutations are not detected by the analysis. Next-generation sequencing has enabled us to analyze the comprehensive human genome, improving the chance of identifying disease causative variants. In this study, we conducted whole-genome sequencing of a sporadic FAP patient in which we did not find any pathogenic APC mutations by the conventional Sanger sequencing. Whole-genome sequencing and subsequent deep sequencing identified a mosaic mutation of c.3175G>T, p.E1059X in ~12% of his peripheral leukocytes. Additional deep sequencing of his buccal mucosa, hair follicles, non-cancerous mucosa of the stomach and colon disclosed that these tissues harbored the APC mutation at different frequencies. Our data implied that genetic analysis by next-generation sequencing is an effective strategy to identify genetic mosaicism in hereditary diseases.
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