Social, Genetics and Histopathological Factors Related to Titin (TTN) Gene Mutation and Survival in Women with Ovarian Serous Cystadenocarcinoma: Bioinformatics Analysis

Genes (Basel). 2023 May 16;14(5):1092. doi: 10.3390/genes14051092.


Several factors may increase the risk of development of ovarian cancer. In this study, we investigated the relationship between social, genetic, and histopathologic factors in women with ovarian serous cystadenocarcinoma and titin (TTN) mutations, whether the TTN gene mutation may be a predictor, and its impact on mortality and survival in these patients. A total of 585 samples from patients with ovarian serous cystadenocarcinoma were collected from The Cancer Genome Atlas and PanCancer Atlas through the cBioPortal for analysis of social, genetic, and histopathological factors. Logistic regression was used to investigate whether TTN mutation could be a predictor, and the Kaplan-Meier method was applied to analyze survival time. TTN mutation frequency did not differ between age at diagnosis, tumor stage, and race, and was related to increased Buffa hypoxia score (p = 0.004), mutation count (p < 0.0001), Winter hypoxia Score (p = 0.030), nonsynonymous tumor mutation burden (TMB) (p < 0.0001), and reduced microsatellite instability sensor score (p = 0.010). The number of mutations (p < 0.0001) and winter hypoxia score (p = 0.008) were positively associated with TTN mutations, and nonsynonymous TMB (p < 0.0001) proved to be a predictor. Mutated TTN affects the score of genetic variables involved in cancer cell metabolism in ovarian cystadenocarcinoma.

Keywords: bioinformatics analysis; genetic factors; ovarian serous cystadenocarcinoma; survival; titin gene (TTN) mutation.

MeSH terms

  • Carcinoma, Ovarian Epithelial
  • Connectin / genetics
  • Cystadenocarcinoma, Serous* / genetics
  • Cystadenocarcinoma, Serous* / pathology
  • Female
  • Humans
  • Mutation
  • Ovarian Neoplasms* / genetics
  • Ovarian Neoplasms* / pathology


  • Connectin
  • TTN protein, human

Grants and funding

This research received no external funding.