Article
The relationship between frequencies of extracolonic manifestations and the position of APC germline mutation in patients with familial adenomatous polyposis.
Japanese journal of clinical oncology - 1 Feb 2000
Enomoto M, Konishi M, Iwama T, Utsunomiya J, Sugihara K I, Miyaki M
Abstract excerpt
BACKGROUND: Familial adenomatous polyposis (FAP) patients develop various extracolonic lesions; however, the relationship between germline mutation of the APC gene and extracolonic manifestations is mostly unknown. To examine the genotype-phenotype relationship, we compared the APC mutation and clinical data. METHODS: Germline mutations from codon 157 to 1465 of the APC gene were identified in 39 families of FAP...
Topics
- Adenoma
- Adenomatous Polyposis Coli
- Adolescent
- Adult
- Cytoskeletal Proteins
- DNA Mutational Analysis
- DNA, Neoplasm
- Duodenal Diseases
- Female
- Genes, APC
- Genotype