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Article

A case of a child with an APC pathogenic mutation, aberrant expression of splice variants and positive family history of FAP.

Japanese journal of clinical oncology - 1 Jun 2014

Taki Keiko, Sato Yasuyoshi, Sato Yuri, Ashihara Yuumi, Chino Akiko, Igarashi Masahiro, Sato Koichiro, Kitagawa Tomoyuki, Maetani Iruru, Nemoto Chieko, Nasuno Kiyoto, Sekine Takashi, Arai Masami

Abstract excerpt

Familial adenomatous polyposis is an autosomal dominant hereditary disease characterized by the appearance of hundreds to thousands of colorectal adenomatous polyps; if left untreated, there is nearly a 100% lifetime risk of colorectal cancer. In the present case, adenomatous polyps were observed at 6 years of age. Unlike our previous assumption, adenomatous polyps were detected by colonoscopy at <10 years of...

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Source

Identifiers

PMID: 24823678
DOI: 10.1093/jjco/hyu050

Genes

APC
FAP

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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