Article
Inactivation of germline mutant APC alleles by attenuated somatic mutations: a molecular genetic mechanism for attenuated familial adenomatous polyposis.
American journal of human genetics - 1 Sept 2000
Su L K, Barnes C J, Yao W, Qi Y, Lynch P M, Steinbach G
Abstract excerpt
Germline mutations of the adenomatous polyposis coli (APC) tumor-suppressor gene result in familial adenomatous polyposis (FAP). Patients with FAP typically develop hundreds to thousands of benign colorectal tumors and early-onset colorectal cancer. A subset of germline APC mutations results in an attenuated FAP (AFAP) phenotype, in which patients develop fewer tumors and develop them at an older age. Although a...
Topics
- Adenomatous Polyposis Coli
- Adolescent
- Alleles
- Codon
- Cytoskeletal Proteins
- DNA Mutational Analysis
- Exons
- Gene Expression Regulation, Neoplastic
- Genes, APC
- Genetic Predisposition to Disease
- Genotype
- Germ-Line Mutation
- Humans