Approved Research

Polymorphisms of the TERT gene and colorectal cancer survival

Lay summary

Colorectal cancer (CRC) is a disease of the large intestine (colon) and/or the region connecting the colon to the anus (rectum). CRC is one of the most common cancers worldwide and the second deadliest. One method to reduce CRC mortality and morbidity is to identify biological markers (biomarkers) that indicate a person has increased risk of dying from a specific cancer.

Our DNA is wound tightly within our cells into structures called chromosomes. End caps on these chromosomes called telomeres serve as a protective feature of the DNA-just like plastic caps on shoelaces. Telomeres get shortened each time a cell divides, and when they get too short, a normal cell would die. Cancer cells have found ways to keep these telomeres extra long so that they can stay alive and produce more cancer cells.

A gene called TERT produces a protein that helps build these telomeres. Changes, called SNPs, along this gene can change its function. Our study seeks to understand if any of these SNPs can change our risk of dying from CRC. The protein produced by TERT also has other functions in the cell. A secondary aim of our study is to see if the risk of dying from CRC is mostly influenced by the SNPs causing a change in the telomere length, or if they exert their effects through other means.

Identifying the genetic markers that show an increased risk of dying from CRC allows for targeted screening. Findings from this study can help decide who should get screened for CRC. Targeted screening helps catch cancer earlier, improving the likelihood of survival.