Juan Manuel Fernandez Muñoz¹, Martin Eduardo Guerrero Gimenez¹, M. Evelyn Cordoba¹, Mariel Fanelli¹, Felipe Carlos Martin Zoppino¹
Breast cancer (BC) represents a major health problem for thousands of women around the world. In Argentina, the incidence and mortality rates are the highest, compared to other types of invasive tumors in women. Cancer is a genetic disease where the function of critical genes in the regulation of growth and survival of cells is altered. Several types of mutations have been studied in order to identify new prognostic markers or therapeutic targets. In this work, we have focused on structural variants, particularly the Copy Number Variation (CNV). CNVs are DNA fragments of 1Kb to 5Mb in length, that are present in a variable number of copies compared to a reference genome. The chaperone complex “TRiC-CCT” assists proteins to acquire their 3D conformation. Among its clients are actin and tubulin, as well as Cdc20, Cdh1, CCND1, among others. Previous studies have revealed that high expression of this complex is related to a worse prognosis in patients with BC. We propose to evaluate the effect of CNVs in TRiC-CCT genes on patient survival and on the main molecular pathways related to cancer. To achieve this objective, the R programming language was used. We obtained the expression, CNV, and clinical data of 1.094 women with BC, from “The Cancer Genome Atlas” (TCGA). As promising results, amplifications observed in three CCT-members (TCP1, CCT2, and CCT8) are associated with worse survival outcomes. Also, multiple molecular pathways related to cancer such as cell cycle, focal adhesions, among others, are altered in relation to patients who do not present alterations in these genes.