Western Kentucky University
Incidences of the *6A Variant on Exon 1 and The Single Nucleotide Polymorphism on Exon 7 of the Transforming Growth Factor-Beta Receptor Type 1 Gene in Colorectal Cancer Patients With More Than One Tumor
Institution
Western Kentucky University
Faculty Advisor/ Mentor
Julia Carter
Abstract
Colorectal cancer (CRC) is a disease that affects the large intestine (colon) and the rectum. In Kentucky, there is estimated to be 2,090 new cases and 850 deaths in 2015 (mortality rate of 40.7%). Throughout cancer progression, genetic abnormalities can favor cancer development and growth. This study investigated the incidence of two genetic changes in patients with more than one cancer. These two variants occur on a gene that codes for transforming growth factor-beta receptor type one (TGFβRI). TGFβ regulates the area surrounding the cell, but has variant forms that can promote cancer development. One of these variants occurs on the exon (part of DNA sequence) 1 region of the gene. Here, nine base pairs (subunits that make up DNA) have been deleted. This is referred to as the 9A/6A variant. The second variant is located near the exonintron (non-coding section of RNA) boundary of exon 7. Here, one base pair is altered to another (guanine to adenine shift). To extract the DNA, magnetic beads were used. The DNA then went through several cycles of polymerase chain reaction (PCR), in which the DNA is heated up and millions of copies are made. Lastly, the DNA was analyzed by capillary electrophoresis, where it moved through small tubes and was tagged by a laser. The results were then used to determine patients’ genotypes. The incidence of the Exon 1 variant remained consistent when compared to patients with one cancer; the variant Exon 7 incidence was decreased. The study also found that patients with variants were slightly older, female, and survived for a shorter period of time. Detecting colorectal cancer in its early stages would provide for a better prognosis and help to alleviate growing healthcare costs in the US. Genetic screening is a promising option for determining probability of cancer development.
Incidences of the *6A Variant on Exon 1 and The Single Nucleotide Polymorphism on Exon 7 of the Transforming Growth Factor-Beta Receptor Type 1 Gene in Colorectal Cancer Patients With More Than One Tumor
Colorectal cancer (CRC) is a disease that affects the large intestine (colon) and the rectum. In Kentucky, there is estimated to be 2,090 new cases and 850 deaths in 2015 (mortality rate of 40.7%). Throughout cancer progression, genetic abnormalities can favor cancer development and growth. This study investigated the incidence of two genetic changes in patients with more than one cancer. These two variants occur on a gene that codes for transforming growth factor-beta receptor type one (TGFβRI). TGFβ regulates the area surrounding the cell, but has variant forms that can promote cancer development. One of these variants occurs on the exon (part of DNA sequence) 1 region of the gene. Here, nine base pairs (subunits that make up DNA) have been deleted. This is referred to as the 9A/6A variant. The second variant is located near the exonintron (non-coding section of RNA) boundary of exon 7. Here, one base pair is altered to another (guanine to adenine shift). To extract the DNA, magnetic beads were used. The DNA then went through several cycles of polymerase chain reaction (PCR), in which the DNA is heated up and millions of copies are made. Lastly, the DNA was analyzed by capillary electrophoresis, where it moved through small tubes and was tagged by a laser. The results were then used to determine patients’ genotypes. The incidence of the Exon 1 variant remained consistent when compared to patients with one cancer; the variant Exon 7 incidence was decreased. The study also found that patients with variants were slightly older, female, and survived for a shorter period of time. Detecting colorectal cancer in its early stages would provide for a better prognosis and help to alleviate growing healthcare costs in the US. Genetic screening is a promising option for determining probability of cancer development.