<i>PMS2</i> -related constitutional mismatch repair deficiency in a patient with unilateral retinoblastoma and negative germline <i>RB1</i>
This case highlights the importance of considering CMMRD in retinoblastoma with normal germline <i>RB1</i> sequence, particularly with additional factors like family cancer history, consanguinity, or multiple childhood malignancies. Given retinoblastoma's association with CMMRD, screening for it in children with CMMRD is recommended.
Authors
- Celeste S. Wyman
- Vikas Khetan (ORCID: https://orcid.org/0000-0003-4396-9877)
- David N. Korones
- Alexandra Hubbel
- Eran Tallis (ORCID: https://orcid.org/0000-0002-7492-1844)
- Laura Rohan
- Goura Chattannavar (ORCID: https://orcid.org/0000-0001-7825-4834)
- Lindsay Adamczak
Institutions
- L V Prasad Eye Institute (IN)
- Golisano Children's Hospital (US)
- University of Rochester (US)
Publication Details
- Journal
- Ophthalmic Genetics
- Published
- 2025-05-25
- DOI
- https://doi.org/10.1080/13816810.2025.2503387
- Citations
- 1
- Primary Topic
- Genetic factors in colorectal cancer
- Type
- article
- Field-Weighted Citation Impact
- 1.47
Funders
- University of Rochester