Two different types of DNA risk variants for cancer have so far been identified: Rare, high or moderate risk protein coding variants that affect disease risk through their direct interaction with specific pathways that drive cancer pathogenesis. Identifying these variants or mutations in subjects before they get cancer is a major aspect of surgical, risk reducing intervention strategies that prevent cancer formation. And more common low risk genetic variants that likely affect expression of one or more driver genes through their interactions with non-protein coding DNA elements. While the effects on cancer risk of each variant is low, when summed together as a genetic risk score (GRS), combinations of these DNA variants can be clinically very significant when identifying subjects in a population that may warrant cancer monitoring to help prevent cancers from occurring. Moreover, genetic risk alleles can vary in both frequency and location by ancestry allowing us to evaluate the genetic risks of different cancers depending on the genetic origin of an individual.
In South Texas, a large portion of the population is Hispanic/Latino; and so much of our effort is directed towards finding genetic risk factors that are more common in populations of this ancestry. We do this by comparing the genetic profiles of individuals who have cancer with those of a similar age and ancestral background that do not have cancer. So far this has led to the finding that there are hundreds of genetic risk factors for common cancers like breast, prostate and colon cancer and many more that are at least partially responsible for cancer that are more common in Hispanic individuals like liver, gastric, cervical cancers and childhood leukemias. We can use this information in clinical practice to translate these findings into new prevention strategies to reduce deaths from these cancers.