Mutations of the APC(Adenomatous Polyposis Coli) Gene in FAP(Familial Polyposis Coli) Patients and in Sporadic Colorectal Tumors

Yusuke Nakamura, Isamu Nishisho, Yasuo Miyoshi, Yoshio Miki, Hiroshi Ando, Akira Horii, Kenneth W. Kinzler, Bert Vogelstein

Research output: Contribution to journalArticle

26 Citations (Scopus)

Abstract

We have isolated several genes on chromosome 5q21 region tightly linked to hereditary familial polyposis coli (FAP) and Gardner's syndrome (GS). Two of these genes (MCC and APC) were found to be somatically altered by point mutation, deletion or insertion in tumors of sporadic colorectal cancer patients. One (APO) of them was also found mutations in the germ line of both APC and GS patients. The identification of these genes has significant implications for understanding the pathogenesis of colorectal neoplasia and for the diagnosis and counseling of individuals with inherited predispositions to colorectal cancer.

Original languageEnglish
Pages (from-to)141-147
Number of pages7
JournalTohoku Journal of Experimental Medicine
Volume168
Issue number2
DOIs
Publication statusPublished - 1992

Keywords

  • Gardner's syndrome (GS)
  • adenomatous polyposis coli (APC) gene
  • chromosome 5q21
  • familial polyposis coli (FAP)
  • mutation

ASJC Scopus subject areas

  • Biochemistry, Genetics and Molecular Biology(all)

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