Plasma Proteomic Profiling in Hereditary Breast Cancer Reveals a BRCA1-Specific Signature: Diagnostic and Functional Implications

Breast cancer (BC) is a leading cause of death among women. Among the major risk factors,an important role is played by familial history of BC. Germ-line mutations in BRCA1/2genes account for most of the hereditary breast and/or ovarian cancers. Gene expressionprofiling studies have disclosed specific molecular signatures for BRCA1/2-related breasttumors as compared to sporadic cases, which might help diagnosis and clinical follow-up.Even though, a clear hallmark of BRCA1/2-positive BC is still lacking. Many diseases arecorrelated with quantitative changes of proteins in body fluids. Plasma potentially carries importantinformation whose knowledge could help to improve early disease detection, prognosis,and response to therapeutic treatments. The aim of this study was to develop acomprehensive approach finalized to improve the recovery of specific biomarkers from plasmasamples of subjects affected by hereditary BC.