ePoster
Talk Description
Institution: Dharmais National Cancer Center Hospital - Jakarta, Indonesia
Aims: Germline variant profiling in patients with tumors helps in understanding hereditary cancer predisposition. However, most of the germline variant profile studies were conducted on Western populations, while data from other less-represented populations, such as the Indonesian population, are scarce. This study aims to generate pilot data to inform future large-scale genomic studies of head and neck tumors in the Indonesian population.
Methodology: Eleven patients with head and neck tumors were included in this study. The germline DNA was analyzed using the TruSight Hereditary Cancer Panel containing 113 genes. Germline variants in each patient were classified as benign, likely benign, variant of uncertain significance (VUS), likely pathogenic, or pathogenic according to ACMG 2015 guidelines.
Results: We identified variants in 16 distinct genes that were involved in key cancer-related pathways, including DNA damage response, cell cycle regulation, and signal transduction. Germline variants were identified in 9 of 11 patients (81.8%), with the majority classified as variants of uncertain significance (VUS). One pathogenic variant (stop-gain) in MUTYH (c.1351G>T) and one likely pathogenic variant in ERCC3 (c.1720C>T), both involved in DNA repair pathways, were also identified.
Conclusion: This pilot study provides preliminary insight into germline variants in Indonesian patients with head and neck tumors and demonstrates the feasibility of targeted germline sequencing in this setting. Larger studies are required to clarify their clinical relevance.
Presenters
Authors
Authors
Mr Alif Rizqy Soeratman - , Mr Muhammad Al Azhar - , Mr Fahreza Saputra - , Ms Maria Angelika Setiadi - , Dr Ramadhan Karsono - , Mr Iskandar Iskandar -