Inactivation of both APC alleles in an early stage of colon adenomas in a patient with familial adenomatous polyposis (FAP).

doi:10.1093/hmg/1.6.387

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Article

Inactivation of both APC alleles in an early stage of colon adenomas in a patient with familial adenomatous polyposis (FAP).

Human molecular genetics - 1 Sept 1992

Ichii S, Horii A, Nakatsuru S, Furuyama J, Utsunomiya J, Nakamura Y

Abstract excerpt

To examine whether the dosage effect of germ-line mutations in patients with familial adenomatous polyposis (FAP) is sufficient to cause colorectal adenomas, or an additional somatic mutation of the normal allele is required as well, we have investigated somatic mutations of the APC gene in multiple adenomas developed in one FAP patient. In addition to a 5-bp deletion of one allele present constitutionally in...

Topics

Adenoma
Adenomatous Polyposis Coli
Adult
Alleles
Base Sequence
Chromosomes, Human, Pair 5
Cloning, Molecular
Colon
Colonic Neoplasms
DNA
Female

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Frameshift Mutation

Genes, APC

Humans

Intestinal Mucosa

Leukocytes

Molecular Sequence Data

Oligodeoxyribonucleotides

Source

Open in PubMed

Identifiers

PMID: 1338760
DOI: 10.1093/hmg/1.6.387

Genes

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 29 Aug 2026. Prepared record publication-1338760-2026-08-29.1. Manifest publication-graph-cohort-2026-08-29.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 29 Aug 2026.

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Inactivation of both APC alleles in an early stage of colon adenomas in a patient with familial adenomatous polyposis (FAP).PMID 1338760Read ↗

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