Publication Date
Fall 2025
Degree Type
Master's Project
Degree Name
Master of Science in Bioinformatics (MSBI)
Department
Computer Science
First Advisor
Dr. Leonard Wesley
Second Advisor
Dr. William Andreopoulos
Third Advisor
Dr. James Casaletto
Keywords
Enrichment Analysis, Epigenetic Pathways, Fisher’s Exact Test, Pancreatic Ductal Adenocarcinoma, Single Nucleotide Polymorphisms
Abstract
Individuals diagnosed with Pancreatic Ductal Adenocarcinoma (PDAC) have a less than a 5% chance of surviving beyond 5 years. By the time PDAC is detected, the tumor has already advanced to an untreatable stage. The absence of reliable early detection biomarkers in pancreatic cancer motivates a comprehensive biological and statistical evaluation of the enrichment of a single nucleotide polymorphism (SNP) of interest in pancreatic cancer. Since smoking is a major risk factor for the disease, the study also explores the SNP’s association with smoking-related tumorigenesis. This non-invasive SNP detection in an individual can also point to mechanistic and epigenetic pathways relevant for early tumor development. To evaluate both SNP enrichment and its association with smoking, Fisher’s exact test is employed to account for some rarity and sparsity of the data in this exploratory analysis. The current literature supports both, the role of SNPs in epigenetic regions influencing PDAC, and specifically the impact of smoking driving PDAC. To investigate these relationships further, the mutational and clinical data from cBioPortal serves as a valuable resource. Statistically significant outcomes may warrant more investigation for a potential biomarker and help in uncovering the biological pathways involved in pancreatic cancer.
Recommended Citation
Dawar, Hina, "Statistical Relevance of SIRT6 Mutation in Pancreatic Cancer and Smoking" (2025). Master's Projects. 1590.
DOI: https://doi.org/10.31979/etd.zrgc-3rzy
https://scholarworks.sjsu.edu/etd_projects/1590
