| Experiment ID | EXP00280 |
| Reference | Title: MicroRNA expression signatures for the prediction of BRCA1/2 mutation-associated hereditary breast cancer in paraffin-embedded formalin-fixed breast tumors. Author: Tanic M, Yanowski K, Gómez-López G, Rodriguez-Pinilla MS, Marquez-Rodas I,Osorio A, Pisano DG, Martinez-Delgado B, Benítez J. Journal: Int J Cancer. 2015 Feb 1;136(3):593-602. doi: 10.1002/ijc.29021. Epub 2014 Jun19. Abstract: Screening for germline mutations in breast cancer-associated genes BRCA1 andBRCA2 is indicated for patients with breast cancer from high-risk breast cancerfamilies and influences both treatment options and clinical management. However, only 25% of selected patients test positive for BRCA1/2 mutation, indicating thatadditional diagnostic biomarkers are necessary. We analyzed 124 formalin-fixedparaffin-embedded (FFPE) tumor samples from patients with hereditary (104) andsporadic (20) invasive breast cancer, divided into two series (A and B).Microarray expression profiling of 829 human miRNAs was performed on 76 samples(Series A), and bioinformatics tool Prophet was used to develop and test amicroarray classifier. Samples were stratified into a training set (n = 38) formicroarray classifier generation and a test set (n = 38) for signaturevalidation. A 35-miRNA microarray classifier was generated for the prediction of BRCA1/2 mutation status with a reported 95% (95% CI = 0.88-1.0) and 92% (95% CI: 0.84-1.0) accuracy in the training and the test set, respectively. Differentialexpression of 12 miRNAs between BRCA1/2 mutation carriers versus noncarriers was validated by qPCR in an independent tumor series B (n = 48). Logistic regression model based on the expression of six miRNAs (miR-142-3p, miR-505*, miR-1248,miR-181a-2*, miR-25* and miR-340*) discriminated between tumors from BRCA1/2mutation carriers and noncarriers with 92% (95% CI: 0.84-0.99) accuracy. Inconclusion, we identified miRNA expression signatures predictive of BRCA1/2mutation status in routinely available FFPE breast tumor samples, which may beuseful to complement current patient selection criteria for gene testing byidentifying individuals with high likelihood of being BRCA1/2 mutation carriers. PMID: 24917463 |
| Expressiion Profile | Description: miRNA expression profiling in hereditary breast tumors Organism: Homo sapiens GEO ID: GSE44899 Platform: GPL7723 Number of samples: 80 |
| Design and Sample | Cancer Type: breast cancer Cancer SubType: N/D Cell Line: N/D Experimental Design: cancer vs normal Case Sample: breast cancer Control Sample: normal breast Num of Case: 76 Num of Control: 4 Quantification Software: Limma Num of miRNAs: 275 |
| Identification | Num of Up: 59 Num of Down: 62 |