Kevin Chih-Yang Huang1,2, Shu-Fen Chiang3,4, Tao-Wei Ke5, William Tzu-Liang Chen5, Tsung-Wei Chen6,7, Kun-San Clifford Chao8. 1. Translation Research Core, China Medical University Hospital, China Medical University, Taichung, Taiwan, R.O.C. 2. Department of Nutrition, HungKuang University, Taichung, Taiwan, R.O.C. 3. Cancer Center, China Medical University Hospital, China Medical University, Taichung, Taiwan, R.O.C. 4. Lab of Precision Medicine, Feng-Yuan Hospital, Ministry of Health and Welfare, Taichung, Taiwan, R.O.C. 5. Department of Colorectal Surgery, China Medical University Hospital, China Medical University, Taichung, Taiwan, R.O.C. 6. Department of Pathology, China Medical University Hospital, China Medical University, Taichung, Taiwan, R.O.C. 7. Graduate Institute of Biomedical Science, China Medical University, Taichung, Taiwan, R.O.C. 8. Cancer Center, China Medical University Hospital, China Medical University, Taichung, Taiwan, R.O.C. d94032@mail.cmuh.org.tw.
Abstract
BACKGROUND: The progression of colorectal cancer (CRC) mainly stems from the occurrence of somatic mutation. However, there is little information that can be used to comprehensively analyse the importance of germline variants in CRC patients. PATIENTS AND METHODS: The candidate germline variants between tumor relapse and cured rectal adenocarcinoma (READ) were firstly filtered by whole-exome sequencing (n=4), and validated by targeted sequencing and associated with clinical outcome in READ (n=48). RESULTS: We identified 9 pathogenic germline variants that were clinically associated with survival outcome in READ, including TIPIN, TLR1, TLR10, OR4D6, IGSF3, UBBP4, OR6J1, FAM208A and DISC1. Patients carrying these germline susceptibility variants had an increased risk of poor survival outcome compared to those without these variants. CONCLUSION: Not only the tumor genome, but also the germline sequence must be analysed to depict the overall genetic profile, providing potential therapeutic strategies for personalized medicine. Copyright
BACKGROUND: The progression of colorectal cancer (CRC) mainly stems from the occurrence of somatic mutation. However, there is little information that can be used to comprehensively analyse the importance of germline variants in CRCpatients. PATIENTS AND METHODS: The candidate germline variants between tumor relapse and cured rectal adenocarcinoma (READ) were firstly filtered by whole-exome sequencing (n=4), and validated by targeted sequencing and associated with clinical outcome in READ (n=48). RESULTS: We identified 9 pathogenic germline variants that were clinically associated with survival outcome in READ, including TIPIN, TLR1, TLR10, OR4D6, IGSF3, UBBP4, OR6J1, FAM208A and DISC1. Patients carrying these germline susceptibility variants had an increased risk of poor survival outcome compared to those without these variants. CONCLUSION: Not only the tumor genome, but also the germline sequence must be analysed to depict the overall genetic profile, providing potential therapeutic strategies for personalized medicine. Copyright
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