Familial adenomatous polyposis patients without an identified APC germline mutation have a severe phenotype
Research output: Contribution to journal › Journal article › Research › peer-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 language | English |
---|---|
Journal | Gut |
Volume | 53 |
Issue number | 2 |
Pages (from-to) | 266-70 |
Number of pages | 5 |
ISSN | 0017-5749 |
Publication status | Published - Feb 2004 |
Externally published | Yes |
- Adenomatous Polyposis Coli, Adult, Age of Onset, Aged, Chi-Square Distribution, Genes, APC, Genotype, Germ-Line Mutation, Humans, Middle Aged, Odds Ratio, Phenotype, Risk
Research areas
ID: 47744744