Germ-line mutations of the APC gene in 53 familial adenomatous polyposis patients

Y. Miyoshi, H. Ando, H. Nagase, I. Nishisho, A. Horii, Y. Miki, T. Mori, J. Utsunomiya, S. Baba, G. Petersen, S. R. Hamilton, K. W. Kinzler, B. Vogelstein, Y. Nakamura

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493 Scopus citations


We searched for germ-line mutations of the APC gene in 79 unrelated patients with familial adenomatous polyposis using a ribonuclease protection analysis coupled with polymerase chain reaction amplifications of genomic DNA. Mutations were found in 53 patients (67%); 28 of the mutations were small deletions and 2 were 1- to 2-base-pair insertions; 19 were point mutations resulting in stop codons and only 4 were missense point mutations. Thus, 92% of the mutations were predicted to result in truncations of the APC protein. More than two-thirds (68%) of the mutations were clustered in the 5' half of the last exon, and nearly two-fifths of the total mutations occurred at one of five positions. This information has significant implications for understanding the role of APC mutation in inherited forms of colorectal neoplasia and for designing effective methods for genetic counseling and presymptomatic diagnosis.

Original languageEnglish (US)
Pages (from-to)4452-4456
Number of pages5
JournalProceedings of the National Academy of Sciences of the United States of America
Issue number10
StatePublished - 1992

ASJC Scopus subject areas

  • General


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