Screening in women with increased breast cancer risk

Abstract

About 10% of all breast cancer cases occur on a hereditary basis. BRCA1/2 (breast cancer oncogenes) account for about 50% of all hereditary breast cancer cases. The remaining cases of suspected inherited origin given by family histories might be associated with other known or currently unknown genes. Deleterious mutations in the BRCA1 or BRCA2 genes are associated with an increased life-time risk of breast and ovarian cancer. BRCA1/2 carriers are more likely in to develop breast cancer at a young age compared with the general population. For women at high breast cancer risk with a mean age under 40 years at diagnosis reported sensitivities of mammography and ultrasound are low, ranging around 30-40%. Using magnetic resonance imaging (MRI) as a complementary imaging tool the sensitivity may increase to 90%. However, the specificity of MRI appears to be generally lower than that of mammography and ultrasound. The data differ depending on patient selection and study design. However, all studies indicate that contrast enhanced magnetic resonance imaging may be the most promising method. Further investigations are still needed to minimize the false-postive rate and to investigate the efficacy of MRI as an integral screening modalitiy in the surveillance of women with increased breast cancer susceptibility. © 2006 S. Karger GmbH.