Article
Identification of 127 amino acid substitution variants in screening 37 DNA repair genes in humans.
Cancer epidemiology, biomarkers & prevention : a publication of the American Association for Cancer Research, cosponsored by the American Society of Preventive Oncology - 1 Oct 2002
Mohrenweiser Harvey W, Xi Tong, Vázquez-Matías Johana, Jones Irene M
Abstract excerpt
The repair of damaged DNA requires the function of multiple proteins in generally damage-specific, nonredundant pathways. The relationship of DNA repair to cancer susceptibility is obvious in "cancer families," in which low frequency, high penetrance, loss-of-function variant alleles of genes with roles in the repair of damaged DNA have been associated with a high risk of disease. More important for the cancer...
Topics
- Amino Acid Substitution
- Base Sequence
- DNA Ligases
- DNA Repair
- Genetic Predisposition to Disease
- Genetic Testing
- Genetic Variation
- Humans
- Molecular Sequence Data
- Phenotype