Context-Previous studies of BRCA1 mutation prevalence have been based on high-risk groups, yielding estimates that do not reflect the experience of the general population of US patients with breast cancer.
ObjectiveTo determine prevalence of known disease-related mutations and other variants in BRCA and how it differs by race, age at diagnosis, and family history status in a population-based sample of white and black patients with breast cancer unselected for family history.
- A 24-county area of central and eastern North Carolina.
- Cases were women aged 20 to 74 years diagnosed as having a first invasive breast cancer between May 1993 and June 1996.
Controls were frequency matched to cases by 5-year age range and race.
The first 21 1 cases and 188 controls regardless of race and the subsequent 99 cases and 108 controls of African American ancestry are included in this report.
- Germline variants at any site in the coding sequence, splice junctions, 5'untranslated region, or 3'untranslated region of the BRCA1 gene were analyzed in cases, and selected variants were analyzed in controls.
Screening was performed using multiplex single-strand conformation analysis, with all potential variants confirmed using genomic sequencing.
- Three of 211 patients with breast cancer had disease-related variants at BRCA1, all of which were protein-truncating mutations. (...)
Mots-clés Pascal : Carcinome, Glande mammaire, Dépistage, Expression génique, Mutation, Maladie héréditaire, Prévalence, Femelle, Etats Unis, Amérique du Nord, Amérique, Homme, Tumeur maligne, Glande mammaire pathologie, Déterminisme génétique, Immunopathologie, BRCA1 gene
Mots-clés Pascal anglais : Carcinoma, Mammary gland, Medical screening, Gene expression, Mutation, Genetic disease, Prevalence, Female, United States, North America, America, Human, Malignant tumor, Mammary gland diseases, Genetic determinism, Immunopathology
Notice produite par :
Inist-CNRS - Institut de l'Information Scientifique et Technique
Cote : 98-0217310
Code Inist : 002B20E02. Création : 11/09/1998.