Exome Sequencing of the Pancreatic Genome

Tiara Y Smith, Tennessee State University


Pancreatic cancer often has a poor prognosis, even when diagnosed early. Pancreatic cancer spreads rapidly and is seldom detected in its early stages. This results in it being a leading cause of cancer death. Signs and symptoms may not manifest until pancreatic cancer is advanced and complete surgical removal is not possible. A hallmark of cancer is the genome instability, which includes changes in DNA sequences, chromosomal rearrangement, and aneuploidy. This research focus is to uncover exome changes in pancreatic adenocarcinomas by comparison of malignant tissue and non-involved tissues of the same patient diagnosed with pancreatic cancer. The exome is the exon portion of the human genome that contains functionally important sequences of DNA that direct the body to make proteins essential for proper functioning. There are approximately 180,000 exons which represent about 1-3% of the human genome. Most of the errors that occur in DNA sequences, which lead to genetic disorders, are located in the exons. Therefore, sequencing of the exome is an efficient method of analyzing an individual’s DNA to discover the genetic cause of diseases. The genetic analysis begins with DNA extraction from pancreatic tumor sample and normal tissue. The purity of the DNA is confirmed via spectrophotometer and gel electrophoresis and sent to an outside lab for sequencing. The next generation sequencing data is used to discover which proteins or genes are affected that are specific to pancreatic adenocarcinomas. From this, I anticipate being able to extract gene information and identify mutations within the tumor sample, conclude if there are new mutation discoveries or new correlations that can be made using this data. Understanding this opens many opportunities to biomedical research and precision treatment concerning pancreatic adenocarcinomas patients.

Subject Area

Molecular biology|Geological

Recommended Citation

Tiara Y Smith, "Exome Sequencing of the Pancreatic Genome" (2016). ETD Collection for Tennessee State University. Paper AAI10158656.