Transcriptomic analysis of BRCA1 and BRCA2 carriers

Abstract

Most frequently mutations that lead to the development of breast and ovarian cancer are BRCA1 and BRCA2. Blood samples from BRCA1, BRCA2 and non-mutation carriers were extracted for both healthy and cancer-affected individuals. These samples underwent lymphocyte stimulation and they were analyzed by using novel bioinformatic tools to gain insight into the transcriptome and to revel different traits between each of the phenotypes. A complex transcriptomic analysis was performed, including and assessing the strategies undertaken in all the necessary steps, quality control, annotation, deconvolution, filtering, variable selection, differential expression and gene set enrichment analysis. Final results suggest that cell cycle and DNA replication pathways were positively overexpressed in BRCA1 and BRCA2 healthy samples, as well as and in BRCA1 affected. In contrast, negative pathways shared a similar pattern in all the studied groups.