Predictors and prevalence of germ-line BRCA1 and BRCA2 mutations in high-risk patients screened at a community hospital.

Abstract

e11124 Background: Germline mutations in tumor suppressor genes, BRCA1 and BRCA2, confer high risks of breast and ovarian cancer in affected individuals. Genetic testing for these pathogenic mutations has potentially important health implications for judicious counseling and screening of high risk individuals. Methods: A retrospective analysis was conducted of all the patients seen at the oncology and genetics clinic from 2000 to 2010. A population of over 500 patients was identified, out of whom 310 subjects underwent risk factor assessment and genetic counseling. BRCA testing was performed on 231 of these subjects whereas 79 subjects were not tested secondary to lack of insurance/follow up, or patient/physician preference. Various ethnic groups were identified which included 138 Caucasian, 41 African American, 28 Ashkenazi Jewish, 4 Middle Eastern, 2 Asian and 2 Hispanic subjects. The race/ethnicity of 16 subjects was unknown secondary to lack of documentation. Results: BRCA mutation testing was complet...