Identification of Clinically Relevant Regions of the Human CDH1 Gene for Determining Predisposition to Hereditary Diffuse Gastric Cancer

Abstract

Genetic testing has opened new doors into understanding a patient’s future health. The human genome is extremely vast and complicated. Testing an entire genome for the innumerable genetic variants that have a bearing on the development of cancer is costly both in time25 and efficiency. Testing for just a single gene results in seeing a whole group of variations, which may or may not be pathogenic11. Pathogenic, in this case, is defined as a variant known to cause or increase risk of a disease, the degree of which is determined by how co-segregated it is with the disease16,17. One of the genes that is examined when looking at hereditary diffuse gastric cancer (HDGC) often is Cadherin-1, or CDH1.