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Lack of association between UGT1A7, UGT1A9, ARP, SPINK1 and CFTR gene polymorphisms and pancreatic cancer in Italian patients
Authors:Piepoli Ada  Gentile Annamaria  Valvano Maria Rosa  Barana Daniela  Oliani Cristina  Cotugno Rosa  Quitadamo Michele  Andriulli Angelo  Perri Francesco
Affiliation:1. Unit and Research Laboratory of Gastroenterology, "Casa Sollievodella Sofferenza", Hospital, IRCCS, San Giovanni Rotondo, Italy
2. Department of Medical Oncology, Hospital and University of Verona, Verona, Italy
3. Department of Medical Oncology, Hospital and University of Verona, Verona, Italy;Department of Medical Oncology, Hospital and University of Verona, Verona, Italy
Abstract:AIM: To investigate simultaneously UGT1A7, UGT1A9, ARP, SPINK and CFTR genes to verify whether genetic polymorphisms predispose to the development of pancreatic cancer (PC). METHODS: Genomic DNA of 61 pancreatic cancer patients and 105 healthy controls (HC) were analyzed. UGT1A7 genotyping was determined by PCR-RFLP analysis. Specific PCR and sequencing were used to analyze genetic variants of UGT1A9, ARP, SPINK1 and CFTR genes. RESULTS: Four different alleles (*1: WT; *2: N129K and R131K; *3: N129K, R131K, and W208R; and *4: W208R) in UGT1A7 and three different alleles (*1: WT; *4: Y242X; and *5: D256N) in UGT1A9 were detected. All UGT1A polymorphisms were observed at similar frequency in PC patients and HC. Seven different alleles in ARP were found in PC patients and HC at similar frequency. The SPINK1 mutations N34S and P55S occurred in five PC patients with a prevalence (4.1%) not significantly different from that observed (2.0%) in HC. The only CFTR DeltaF508 mutation was recognized in three PC patients with a prevalence (4.9%) similar to HC. CONCLUSION: UGT1A7, UGT1A9, ARP, SPINK1 and CFTR gene polymorphisms are not associated with PC in Italian patients.
Keywords:Pancreatic cancer  Genetic polymorphisms  Risk factors  Sporadic
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