Correlation between the Location of Germ-Line Mutations in the APC Gene and the Number of Colorectal Polyps in Familial Adenomatous Polyposis Patients

Hiroki Nagase, Yasuo Miyoshi, Akira Horii, Takahisa Aoki, Michio Ogawa, Joji Utsunomiya, Shozo Baba, Takehiko Sasazuki, Yusuke Nakamura

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308 Citations (Scopus)

Abstract

Recently we have isolated the adenomatous polyposis coli (APC) gene which causes familial adenomatous polyposis (FAP), and its germ-line mutations in a substantial number of FAP patients have been identified. On the basis of this information, we compared the location of germ-line mutations in the APC gene in 22 unrelated patients (12 of whom have been reported previously) with the number of colorectal polyps developed in FAP patients; 17 were sparse types and five were profuse types. All but one of the mutations were considered to cause truncation of the gene product by frame-shift due to deletion (14 cases) or nonsense mutation (seven cases). The location of the germ-line mutations seems to correlate with the two clinical types; germ-line mutations in five FAP patients with profuse polyps were observed between codon 1250 and codon 1464, whereas mutations in 17 FAP patients with fewer polyps were observed in the other regions of the APC gene. The result suggests that the number of colorectal polyps in FAP patients may be associated with a difference in the stability or biological function of the truncated APC protein.

Original languageEnglish
Pages (from-to)4055-4057
Number of pages3
JournalCancer Research
Volume52
Issue number14
Publication statusPublished - 1992 Jul

ASJC Scopus subject areas

  • Oncology
  • Cancer Research

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