Familial adenomatous polyposis patients without an identified APC germline mutation have a severe phenotype

Research output: Contribution to journalJournal articleResearchpeer-review

Development of more than 100 colorectal adenomas is diagnostic of the dominantly inherited autosomal disease familial adenomatous polyposis (FAP). Germline mutations can be identified in the adenomatous polyposis coli (APC) gene in approximately 80% of patients. The APC protein comprises several regions and domains for interaction with other proteins, and specific clinical manifestations are associated with the mutation assignment to one of these regions or domains.
Original languageEnglish
JournalGut
Volume53
Issue number2
Pages (from-to)266-70
Number of pages5
ISSN0017-5749
Publication statusPublished - Feb 2004
Externally publishedYes

    Research areas

  • Adenomatous Polyposis Coli, Adult, Age of Onset, Aged, Chi-Square Distribution, Genes, APC, Genotype, Germ-Line Mutation, Humans, Middle Aged, Odds Ratio, Phenotype, Risk

ID: 47744744