APC gene mutations and extraintestinal phenotype of familial adenomatous polyposis.

@article{Giardiello1997APCGM,
  title={APC gene mutations and extraintestinal phenotype of familial adenomatous polyposis.},
  author={Francis M. Giardiello and G. M. van Petersen and Steven Piantadosi and Stephen B. Gruber and Elias I. Traboulsi and G. Johan A. Offerhaus and Kei Muro and Anne J Krush and Susan V. Booker and Michael C. Luce and Steven J. Laken and Kenneth W. Kinzler and Bert Vogelstein and Stanley R. Hamilton},
  journal={Gut},
  year={1997},
  volume={40 4},
  pages={521-5}
}
BACKGROUND Familial adenomatous polyposis (FAP) is caused by germline mutation of the adenomatous polyposis coli (APC) gene on chromosome 5q. AIMS This study assessed genotype-phenotype correlations for extraintestinal lesions in FAP. METHODS Mutations of the APC gene were compared with the occurrence of seven extraintestinal manifestations in 475 FAP patients from 51 families. The frequency of manifestations was adjusted for different ages of patients using person years of exposure. In… CONTINUE READING