Circulating tumor cells as an early detection tool for BRCA positive women

e13025Background: Women with BRCA mutation have a high risk to develop breast and ovarian cancer. Even though intensive radiologic breast cancer screening is successful in this group of patients, surgery and systemic treatment will not be prevented. Several clinical trials have shown that detection of circulating tumor cells (CTC) in adjuvant treated breast cancer patients are a good prognostic tool and might be reason enough to re-start treatment. In this prospective study we investigated the presence of CTCs and their possible predictive value regarding any cancer diagnosis in cancer-free women with germline BRCA mutation. Methods: In 2009, cancer-free women with BRCA germline mutation, without previous bilateral prophylactic mastectomy, were included in the study. Before blood sample donation, all women were screened by mammography and breast-MRI as well as vaginal ultrasonography, and CA-12.5 assessment. All samples underwent immunomagnetic enrichment using the AdnaTest BreastCancerSelect (AdnaGen AG,...