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

Shigetoshi Ichii, Akira Horii, Shuichi Nakatsuru, Junichi Furuyama, Joji Utsunomiya, Yusuke Nakamura

Research output: Contribution to journalArticlepeer-review

117 Citations (Scopus)

Abstract

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 this patient, the normal APC allele had been lost in five of seven DNA samples extracted from small adenomas (<3mm in diameter) with mild or moderate atypia. This result indicates that the inactivation of both alleles of the APC gene is probably essential for the development of an early-stage adenoma, in agreement with the two-hit mutational model underlying the concept of tumor suppressor genes.

Original languageEnglish
Pages (from-to)387-390
Number of pages4
JournalHuman molecular genetics
Volume1
Issue number6
DOIs
Publication statusPublished - 1992 Sep 1

ASJC Scopus subject areas

  • Molecular Biology
  • Genetics
  • Genetics(clinical)

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