Single Nucleotide Polymorphism (SNP) represents a natural genetic variability found in high density in the human genome. A SNP is characterized by an alternate nucleotide in a given and defined genetic location at a frequency exceeding 1% in a given population. There has been a growing recognition that large collections of mapped SNPs would provide a powerful tool for human genetic studies. In a complex disease involving a large number of genes such as cancer, SNPs with significant association with the disease may be useful for developing diagnostic tools which can identify individuals with higher susceptibility for disease manifestation and to facilitate disease management and treatment.
The SNP Division intends to develop a genetic screen for cancer predisposition that can be utilized as an early diagnostic tool and provide an effective method of improving the outcome of cancer treatment by associating SNPs in genes that are linked with cancer progression. Currently, our focus is on liver cancer, colorectal cancer and brain tumor. For liver cancer study, we seek to identify SNPs in the Alpha Fetoprotein (AFP) gene and analyze if the polymorphic variations are associated with hepatocellular carcinoma development. Using the candidate gene approach and making use of available SNP data, we will screen for additional candidate genes that are associated with liver cancer risk, progression and development. For colorectal cancer and brain tumor study, we conduct SNP microarray to identify novel cancer susceptibility loci in the whole genome. Statistical analysis is utilized to validate the association of identified SNPs with the disease condition. Identifying and evaluating of these functional SNPs shall contribute to a better knowledge of cancer which shall increase understanding of the role of microenvironmental factors in cancer development and improve the design studies that address chemoprevention, biomarker discovery and appropriate therapy
Moreover, the SNP Division also seeks to study association of genetic variations in relation with drug response. By establishing an association between the genetic makeup of an individual and drug response, it is possible to develop a genome-based diet and medicines that are more effective and safer for each individual. At this stage, we intend to determine the association of gene polymorphisms with the dose requirement of warfarin, an oral anticoagulant drug in the prevention of thromboembolism for patients with venous and arterial thromboembolic disorders. Based on the genotypes for SNPs that are significantly associated with warfarin sensitivity, a predictive system could then be developed, that will enable a dose appropriate treatment for patients in Indonesia.