Genetic variants involved in specialized DNA replication and their relation with breast cancer risk, disease progression and patient prognosis

Background The molecular mechanisms involved in genetic instability, which is a driving force of cancer cells from earlier stages of pathologenesis, are not fully understood. Current evidence shows that overexpression of Pol θ, a “DNA repair” polymerase specialized in the replication of damaged DNA, which is altered in breast tumors, is not a passive agent in tumor development and is able to predict patient outcome. Aberrant POLQ expression may be related to genetic instability, and also resistance to “replicative stress”, leading to changes in replicating parameters and consequent tumor development. The objective of this project is to analyze genetic variants related to POLQ as new population biomarkers of risk, progression and prognosis in hereditary (HBC) and sporadic (SBC) breast cancer in Brazil.