In silico studies of molecular alterations in fanconi anemia genes from cancer cell lines and samples


  • Jade Alexandra Silva Name
  • Victória Maria Ramos Salomão
  • Alexandre Moreira de Almeida
  • Renata Matuo
  • Fabrício Garmus Sousa



cellminercdb, drug activity, gene expression, fanconi anemia


This paper proposes the use of bioinformatics tools to study the frequencies of alterations found in Fanconi Anemia (FA) genes, through cell lineage, drug activity (CellMinerCDB) in 4 databases (NCI-60, CCLE-Broad-MIT, GDSC-MGH-Sanger, and CTRP-Broad-MIT) evaluating expression, copy variation and mutation, and 32 cancer samples (cBioPortal) were analyzed, following the creation of genomic networks (Cytoscape). Results indicated FA genes with high mutation frequencies and with emphasis on the increase in gene copy gain. In cancer samples, a high frequency of mutations in uterine cancer in several FA genes was observed. Through network analysis, FANCI was correlated with molecular characteristics of repair pathways nominative as candidate for molecular markers and target uterine cancer therapies. Topoisomerases, Polo-Like-Kinases (PLK3), and Histone deacetylases (HDAC's) inhibitor drugs showed a significant P value in high correlations of several FA genes owing to copy gain, the expression these genes may be an important factor for anticancer treatment.


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How to Cite

Name, J. A. S., Salomão, V. M. R., de Almeida, A. M., Matuo, R., & Sousa, F. G. (2023). In silico studies of molecular alterations in fanconi anemia genes from cancer cell lines and samples. OBSERVATÓRIO DE LA ECONOMÍA LATINOAMERICANA, 21(9), 13067–13087.