Abstract
Development of one hundred or more adenomas in the colon and rectum is diagnostic for the dominantly inherited, autosomal disease Familial Adenomatous Polyposis (FAP). It is possible to identify a mutation in the Adenomatous Polyposis Coli (APC) gene in approximately 80% of the patients, and almost 1,000 different pathogenic mutations have been identified in the APC gene up till now. We report 12 novel and 24' previously described germline APC mutations from 48 unrelated Danish families. Four families with the mutation localized in the 3' region of the gene showed great variance in phenotypic presentation.
| Original language | English |
|---|---|
| Journal | Human Mutation |
| Volume | 23 |
| Issue number | 5 |
| Pages (from-to) | 522 |
| ISSN | 1059-7794 |
| DOIs | |
| Publication status | Published - May 2004 |
| Externally published | Yes |
Keywords
- 3' Flanking Region
- Adenomatous Polyposis Coli
- Adolescent
- Adult
- Aged
- Child
- DNA Mutational Analysis
- Denmark
- Female
- Genes, APC
- Germ-Line Mutation
- Humans
- Male
- Middle Aged
- Phenotype