Use of peripheral blood mRNA signature to distinguish patients with breast cancer from benign breast disease and nonconclusive mammography.

Abstract

10581 Background: Due to small volume and high-density breast, Asian women, especially the young group, are classified as BI-RADS 0 in their mammographic diagnosis when imaging cannot identify. Within the framework of Breast Cancer Screening Program of Fudan University Cancer Hospital (FUCH), this proportion is at least 10%. Follow-up is usually recommended, which requires a long, expensive and anxiety producing process, based on ultrasonography or MRI or even biopsy. No alternative based on blood biomarkers has yet succeeded to discriminate within the BI-RADS 0 patients, between breast cancer (BC) and benign breast disease (BBD). DNA-microarrays and PAXgene are used in the present study to explore gene expression repertoire in peripheral blood samples, with attractive perspectives for new biomarker discovery. Methods: 84 BC and 94 BBD patients with mammographic results and confirmed pathologic information were enrolled in our study, categorized in two groups, 79 BC + 73 BBD with BI-RADS 1-5, and 5 BC + 21 BBD with BI-RADS 0. RNA extracted from peripheral blood samples collected in PAXgene tube, were analysed after NuGEN WT-Ovation RNA amplification, using Affymetrix GeneChip HG-U133 Plus 2.0 arrays. A 28-gene panel was developed, to discriminate BC and BBD patients with BI-RADS 1-5. This model has then been tested in the BI-RADS 0 group. Results: Using this 28-gene panel, we correctly classified 88% samples in the training set of BI-RADS 1-5, and correctly predicted 73% samples in the test set of BI-RADS 0. The majority of these genes had a decreased expression level in BC patients, and predominantly encoded proteins implicated in ribosome production and translation control. In contrast, the expression of some defense-related genes was increased in those patients. Conclusions: Our work has led to identify a peripheral blood mRNA signature which can help discriminate breast cancer from benign breast disease, with a particular interest in patients with non-conclusive mammography. Author Disclosure Employment or Leadership Position Consultant or Advisory Role Stock Ownership Honoraria Research Funding Expert Testimony Other Remuneration bioMerieux