TY - JOUR TI - Association of PIK3CA and PTEN genetic alterations with cervical cancer mortality and tumor recurrence DO - https://doi.org/doi:10.7282/T3KD228P PY - 2018 AB - Background: Despite the fact that cervical cancer is known to be a preventable cancer, it remains one of the major causes of cancer-related deaths in females. A number of studies have attributed differences in clinical outcomes of cervical cancer to several factors such as stage at presentation, treatment pattern, and socioeconomic status. However, the association of specific genetic alterations with differences in clinical outcomes remains largely unexplored. Objectives: The initial research purpose was to identify the most common oncogene and tumor suppressor gene in cervical cancer with mutations and copy number alterations (CNAs). The focused research purpose was to examine the association of the identified oncogene and tumor suppressor gene with clinical outcomes and racial differences. Methodology: This study made use of the Cancer Genome Atlas (TCGA) database. The TCGA cervical cancer data were submitted between 2011 and 2014. The two genomic profiles used were mutation data and CNA data. The Fisher’s exact and chi-square tests were used to test for associations between the categorical variables. Logistic regression analysis was used to quantify the strength of associations.   Results: There were 309 cervical cancer cases. Phosphatidylinositol3-Kinase Catalytic Subunit Alpha (PIK3CA) and Phosphatase and Tensin Homolog (PTEN) genes were identified as the most common oncogene and tumor suppressor gene respectively. 63 patients had mutations in PIK3CA or PTEN or both, and 70 patients had CNAs. The ORs (Exp(B)) of death and tumor recurrence for patients with mutations were 3.300(1.625– 6.700) and 2.461(1.120–5.407) respectively. The ORs of death and tumor recurrence for patients with CNAs were 2.316(1.282–4.186) and 2.383(1.228–4.624) respectively. The ORs for CNA positive for the Black race compared to White race was 2.378(1.137–5.452). Conclusions: Genetic alterations in PIK3CA or PTEN or both are associated with a higher risk of cervical cancer mortality and tumor recurrence. These genes can be explored as therapeutic targets to improve cervical cancer treatment. High prevalence of CNAs in African American women could be due to the fact that a larger percentage presented at a later stage as stages III and IV are significant predictors of the presence of CNAs in these genes. KW - Biomedical Informatics KW - Cervix uteri--Cancer LA - eng ER -