Germline <i>RB1</i> Mutation in Retinoblastoma Patients: Detection Methods and Implication in Tumor Focality-Reference-Cited by-同舟云学术

Germline RB1 Mutation in Retinoblastoma Patients: Detection Methods and Implication in Tumor Focality

Published:2022-09-29 Issue:9 Volume:11 Page:30
ISSN:2164-2591
Container-title:Translational Vision Science & Technology
language:en
Short-container-title:Trans. Vis. Sci. Tech.

Author:

Rojanaporn Duangnate¹,Chitphuk Sermsiri²,Iemwimangsa Nareenart³,Chareonsirisuthigul Takol⁴,Saengwimol Duangporn²,Aroonroch Rangsima⁴,Anurathathapan Usanarat⁵,Hongeng Suradej⁵,Kaewkhaw Rossukon⁶⁷

Affiliation:

1. Department of Ophthalmology, Faculty of Medicine Ramathibodi Hospital, Mahidol University, Bangkok, Thailand

2. Research Center, Faculty of Medicine Ramathibodi Hospital, Mahidol University, Bangkok, Thailand

3. Center for Medical Genomics, Faculty of Medicine Ramathibodi Hospital, Mahidol University, Bangkok, Thailand

4. Department of Pathology, Faculty of Medicine Ramathibodi Hospital, Mahidol University, Bangkok, Thailand

5. Department of Pediatrics, Faculty of Medicine Ramathibodi Hospital, Mahidol University, Bangkok, Thailand

6. Program in Translational Medicine, Faculty of Medicine Ramathibodi Hospital, Mahidol University, Bangkok, Thailand

7. Chakri Naruebodindra Medical Institute, Faculty of Medicine Ramathibodi Hospital, Mahidol University, Samut Prakan, Thailand

Publisher

Association for Research in Vision and Ophthalmology (ARVO)

Subject

Ophthalmology,Biomedical Engineering

Reference30 articles.

1. Association between genotype and phenotype in consecutive unrelated individuals with retinoblastoma;Salviat;JAMA Ophthalmol,2020

2. Long-term risk of subsequent cancer incidence among hereditary and nonhereditary retinoblastoma survivors;Schonfeld;Br J Cancer,2021

3. Recommendations for long-term follow-up of adults with heritable retinoblastoma;Tonorezos;Ophthalmology,2020

4. Enhanced sensitivity for detection of low-level germline mosaic RB1 mutations in sporadic retinoblastoma cases using deep semiconductor sequencing;Chen;Hum Mutat,2014

5. Mutation and cancer: statistical study of retinoblastoma;Knudson;Proc Natl Acad Sci USA,1971

Cited by 2 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. Mutational analysis of the RB1 gene in patients with unilateral retinoblastoma;Frontiers in Medicine;2024-08-21

2. Clinical and genetic characteristics of retinoblastoma patients in a single center with four novel RB1 variants;International Journal of Ophthalmology;2023-08-18