Delving Into Retinoblastoma Genetics: Discovery of Novel Mutations and Their Clinical Impact: Retrospective Cohort Study
This study provides a comprehensive analysis of RB1 germline mutations in a group of cases with Rb, leading to the identification of 13 novel mutations in Rb patients at a referral center in Iran. We expect that our findings will yield valuable insights to inform the management and genetic counseling of Rb patients, as well as their relatives who are at a higher risk.
Authors
- Negin Sadighnia (ORCID: https://orcid.org/0000-0001-6302-979X)
- Ali Elahinia (ORCID: https://orcid.org/0000-0002-5245-0041)
- Reza Mirshahi (ORCID: https://orcid.org/0000-0002-5997-6417)
- Ahad Sedaghat
- Pooya Faranoush (ORCID: https://orcid.org/0000-0001-9329-6426)
- Davood Bashash (ORCID: https://orcid.org/0000-0002-8029-4920)
- Zeinab Davoodi‐Moghaddam
- Shirin Ravanbod
- Masood Naseripour (ORCID: https://orcid.org/0000-0003-1217-3470)
- Alireza Jahandideh (ORCID: https://orcid.org/0000-0002-4212-6416)
- Parisa Shams
- Delbar Daneshjou
- Farzaneh Nasirnejad
Institutions
- University of Science and Culture (IR)
- Islamic Azad University, Science and Research Branch (IR)
- Iran University of Medical Sciences (IR)
- Academic Center for Education, Culture and Research (IR)
- Hemophilia Center of Iran (IR)
- Rasool Akram Hospital (IR)
- Shahid Beheshti University of Medical Sciences (IR)
Publication Details
- Journal
- Cancer Medicine
- Published
- 2025-05-01
- DOI
- https://doi.org/10.1002/cam4.70922
- Citations
- 4
- Primary Topic
- Ocular Oncology and Treatments
- Type
- article
- Field-Weighted Citation Impact
- 6.83
Funders
- Iran University of Medical Sciences