ArticleBMC cancer2017
First-decade patient with colorectal cancer carrying both germline and somatic mutations in APC gene.
Article in BMC cancer, 2017. 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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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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Who cites it
5 citing papers in PubMed, 4 citations in OpenAlex.
- A rare upstream regulatory region mutation in APC presenting as classical familial adenomatous polyposis: A case report and literature review.Experimental and therapeutic medicine · 2026Article
- An integrated DNA and RNA variant detector identifies a highly conserved three base exon in theRNA biology · 2021Article
- Colorectal cancer under 20 years old: a retrospective analysis from three tertiary hospitals.Journal of cancer research and clinical oncology · 2021Article
- Predictive Testing for Tumor Predisposition Syndromes in Pediatric Relatives: An Asian Experience.Frontiers in pediatrics · 2020Article
- Macrophages as an Emerging Source of Wnt Ligands: Relevance in Mucosal Integrity.Frontiers in immunology · 2019Review
Corrections and comments
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Authors and funding
7 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundColorectal carcinoma (CRC) is one of the most common causes of cancer-related deaths. The mean age of patients with CRC ranges from 49 to 60 years. Pediatric CRC is unusual, which often escapes early diagnosis because of a lack of awareness of its occurrence in children. The association between the mutation of APC and the occurrence of CRC in the first decade of life remains unknown. CASE PRESENTATION: We report a 10-year-old child with CRC; he was diagnosed with stage IIIB advanced transverse colon cancer without distal metastases. We detected a heterozygous germline mutation at c.5465 T > A in both blood and tissue samples and a heterozygous somatic mutation at c.7397C > T in the tissue sample. Both of these mutations can cause CRC tumorigenesis in the first decade of life.
conclusionsThe rare genetic features of this 10-year-old patient might be the predisposing cause of pediatric CRC. Therefore, screening patients with early-onset CRC through clinical and genetic characterizations is suggested.
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Registered trials
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