TP53 Arg72Pro Polymorphism and Pancreatic Cancer Susceptibility: Assessing rs1042522 as a Risk Factor for Pancreatic Cancer

Background: Pancreatic cancer (PaC) is expected to become the 2nd leading cause of death by 2030 death in Western countries. There is a need to pinpoint high-risk populations since extensive screening would be economically impractical. Methods: This study has focused on the polymorphic variants of gene TP53 involved in pancreatic cancerogenesis by next generation sequencing. Results: The analysis revealed the TP53 variant rs1042522 in 30 out of 35 patients, with a cytosine (C) replaced by a guanine (G), hence inserting an Arginine in the final protein instead of a Proline. The presence of the rs1042522 variant confers an Odds Ratio of 6,11 for PaC and an OR of 20 for homozygosity G/G when comparing our cohort of PaC patients to a heathy population from the 1000GenomeProject. Conclusion: This finding could identify a very high risk population deserving to be screened for PaC, even though a wider validation of rs1042522 as a risk factor is needed.