HNF1B polymorphism influences the prognosis of endometrial cancer patients: A cohort study

Vincenzo Dario Mandato, Enrico Farnetti, Federica Torricelli, Martino Abrate, Bruno Casali, Gino Ciarlini, Debora Pirillo, Maria Carolina Gelli, Davide Nicoli, Mario Grassi, Giovanni Battista la Sala, Stefano Palomba

Research output: Contribution to journalArticlepeer-review


Background: HNF1B (formerly known as TCF2) gene encodes for a transcription factor that regulates gene expression involved in normal mesodermal and endodermal developments. A close association between rs4430796 polymorphism of HNF1B gene and decreased endometrial cancer (EC) risk has been demonstrated. The aim of the current study was to test the hypothesis that rs4430796 polymorphism can influence the prognosis of EC patients. Methods: Retrospective cohort study. Clinical and pathological data were extrapolated and genotypes were assessed on formalin-fixed and paraffin-embedded non-tumour tissues. The influence of patients' genotype on overall survival and progression free survival were our main outcome measures. Results: A total of 191 EC patients were included in the final analysis. Overall survival differed significantly (P = 0.003) among genotypes. At multivariate analysis, a significant (P <0.05) effect on overall survival was detected for FIGO stage, and rs4430796 polymorphism of HNF1B gene. After grouping EC patients according to adjuvant treatment, rs4430796 polymorphism resulted significantly (P <0.001) related to overall survival only in subjects who received radiotherapy plus chemotherapy. A significant (P = 0.014) interaction between rs4430796 polymorphism and chemo-radiotherapy was also detected. Finally, only a trend (P = 0.090) towards significance was observed for rs4430796 polymorphism effect on progression free survival. Conclusions: rs4430796 polymorphism of HNF1B gene influences independently the prognosis of EC patients with a potential effect on tumor chemo-sensitivity.

Original languageEnglish
Article number229
JournalBMC Cancer
Issue number1
Publication statusPublished - Apr 7 2015


  • Adjuvant therapy
  • Endometrial cancer
  • HNF1B
  • Rs4430796
  • SNP
  • Survival

ASJC Scopus subject areas

  • Oncology
  • Cancer Research
  • Genetics


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