We found a match
Your institution may have rights to this item. Sign in to continue.
- Title
Bioinformatic Analysis of Frequently Reported Somatically Mutated Genes of Triple-negative Breast Cancer and Comparison with Top Mutated Genes from the BRCA-UK Project.
- Authors
Hilario, Allan L.; Medina, John Robert C.; Nevado Jr., Jose B.; Silao, Catherine Lynn T.
- Abstract
Triple-negative breast cancer (TNBC) is a breast cancer subtype with uncertain causation except for some subtypes with known genetic etiology. It is associated with heritability and is considered a genetically heterogeneous disease. TNBC is associated with a poorer prognosis, is more aggressive in clinical course, has poorer treatment response, and has poorer survival. This study was done to review the differentially somatically mutated genes in published literature according to the frequency of articles cited, GO and STRING analyses performed, and comparison done with the genetic profile of the BRCA-UK Project TNBC cohort. A literature search was done in PubMed using specified mesh words. The top 54 frequently reported genes were characterized using GO and STRING protein-protein interaction (PPI) analyses. The set of genes cited in literature was compared with the top 50 somatically mutated genes in the BRCA-UK Project cohort. The top ten most frequently reported mutated genes in the literature were TP53, PIK3CA, PTEN, PALB2, RB1, ATM, AKT1, CDH1, EGFR, and KMT2C. GO analysis showed enrichment in themes associated with cell proliferation and enhanced cellular metabolism. STRING PPI analysis further showed involvement in proto-oncogene activation, cell proliferation, cell cycle regulation, evasion of apoptosis, loss of tumor suppression, epithelial-mesenchymal transition (EMT), and metastasis. It also suggested involvements in interacting signaling pathways such as P13K/AKT/mTOR, NOTCH, BRCA2, RAS/MAPK, and PK pathways. Interestingly, upon comparison with the BRCA-UK Project cohort, the number of dissimilar genes were more than the shared genes, which include TP53, TTN, SYNE1, and USH2A. The genetic profile of TNBC from literature provides a tumor microenvironment that reflects the aggressive biological behavior and poor clinical outcomes of TNBC. This can be used to elucidate the cancer biology of TNBC and provides biomarkers for possible prognosticators and targets for drug development and future research.
- Subjects
TRIPLE-negative breast cancer; BRCA genes; GENES; CELL cycle regulation; PROGNOSIS; TREATMENT effectiveness; HERITABILITY
- Publication
Philippine Journal of Science, 2021, Vol 150, Issue 1, p17
- ISSN
0031-7683
- Publication type
Article