Abstract
BackgroundBreast 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 BRCA1/2 genes account for most of the hereditary breast and/or ovarian cancers. Gene expression profiling studies have disclosed specific molecular signatures for BRCA1/2-related breast tumors 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 are correlated with quantitative changes of proteins in body fluids. Plasma potentially carries important information whose knowledge could help to improve early disease detection, prognosis, and response to therapeutic treatments. The aim of this study was to develop a comprehensive approach finalized to improve the recovery of specific biomarkers from plasma samples of subjects affected by hereditary BC.MethodsTo perform this analysis, we used samples from patients belonging to highly homogeneous population previously reported. Depletion of high abundant plasma proteins, 2D gel analysis, liquid chromatography-tandem mass spectrometry (LC-MS/MS) and bioinformatics analysis were used into an integrated approach to investigate tumor-specific changes in the plasma proteome of BC patients and healthy family members sharing the same BRCA1 gene founder mutation (5083del19), previously reported by our group, with the aim to identify specific signatures.ResultsThe comparative analysis of the experimental results led to the identification of gelsolin as the most promising biomarker.ConclusionsFurther analyses, performed using a panel of breast cancer cell lines, allowed us to further elucidate the signaling network that might modulate the expression of gelsolin in breast cancer.
Highlights
Breast cancer (BC) is the most commonly diagnosed cancer in women worldwide, representing about 12% of all new cancer cases and 25% of all cancer cases in women [1]
Further analyses, performed using a panel of breast cancer cell lines, allowed us to further elucidate the signaling network that might modulate the expression of gelsolin in breast cancer
It is estimated that 5%–10% of all breast and ovarian cancer (BOC) cases are genetically inherited, and the BC susceptibility genes BRCA1 and BRCA2 have been identified as being responsible for 21%–40% of these cases [3]
Summary
Breast cancer (BC) is the most commonly diagnosed cancer in women worldwide, representing about 12% of all new cancer cases and 25% of all cancer cases in women [1]. It is estimated that 5%–10% of all breast and ovarian cancer (BOC) cases are genetically inherited, and the BC susceptibility genes BRCA1 and BRCA2 have been identified as being responsible for 21%–40% of these cases [3]. Women who carry a germline mutation in BRCA1 have a lifetime risk of 50%–85% of developing breast cancer and 12%–60% of developing ovarian cancer. Germ-line mutations in BRCA1/2 genes account for most of the hereditary breast and/or ovarian cancers. Gene expression profiling studies have disclosed specific molecular signatures for BRCA1/2-related breast tumors as compared to sporadic cases, which might help diagnosis and clinical follow-up. Plasma potentially carries important information whose knowledge could help to improve early disease detection, prognosis, and response to therapeutic treatments.
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