Abstract
Cancer is the first-leading cause of death in Thailand. Cancer is caused by gene mutations that control the cell functions in cell growth and division. The genetic mutation causing cancer can be divided into two broad categories based on the tissues of origins: somatic mutation and germline mutation. The germline mutation passes directly from parent to offspring which can be detected in every cell within the body. Cancers associated with germline mutations are called hereditary cancers. Most hereditary cancer patients have similar clinical symptoms and signs to sporadic cancer, it is difficult to distinguish the hereditary cancers for the benefit of preventing, treating and screening cancer in at-risk family members. In addition, hereditary cancers account for up to 12 percent of all cancer diagnoses. Thus, genomic medicine has the potential to make the diagnosis more accurate. This project aims to utilize genome sequencing technology to identify germline mutations and diagnose hereditary cancer syndromes among Thai cancer patients, this would also create an opportunity to build large genome database for future study of the cancer susceptibility genes and polygenic risk of cancer for Thai population. Moreover, this project has created collaborative network among medical schools, large university-affiliated hospitals and cancer centers to support and share experience, exchange knowledge, and facilitate the integration of genomic medicine in cancer care. Study by next-generation sequencing (NGS) found that approximately 16% of cancer patients participated in this study harbored germline pathogenic or likely pathogenic variants in various cancer susceptibility genes. This information was useful for further expanding to identify at-risk family members with appropriate cancer screening, early detection and prevention in the future. Genetic diagnosis, genome-guided screening and prevention of cancer were also cost-effective and would be a model of the implementation of genomic medicine in national healthcare system.
