Article
Mutation spectrum of retinoblastoma patients in Vietnam.
Molecular genetics & genomic medicine - 1 Nov 2023
Linh Dao Nguyen Ha, Van Huy Nguyen, Nguyen Phuoc-Dung, Le Thi Phuong, Tuan Hoang Anh, Van Nguyen Trong, Tran Thu Ha, Tran Hai Anh, Ta Thanh Dat, Pham Tuan L A, Bui The-Hung, Tran Thinh Huy, Van Ta Thanh, Tran Van-Khanh
Abstract excerpt
BACKGROUND: Retinoblastoma (RB), an intraocular malignancy commonly diagnosed in children, is mostly caused by inactivating mutations of both alleles of the RB1 gene. Early genetic screening for RB1 gene mutations would greatly improve treatment outcomes and patient management. METHODS: In this study, both somatic and germline mutations were detected in blood and tumour samples of 42 RB patients using direct...
Topics
- Child
- Humans
- Retinoblastoma
- Vietnam
- Mutation
- Genetic Testing
- Retinal Neoplasms