P077: Detection of germline low-level mosaic RB1 variant in a patient with unilateral retinoblastoma and implications
Abstract
Retinoblastoma (RB) is a malignant intraocular tumor affecting young children, usually before age 5 years. Patients may present with unilateral or bilateral tumors, and about 40% of all cases are heritable. Only about 0.5–20% of patients have family history. Almost all RBs are caused by biallelic inactivation of RB1 gene. Bilateral cases are associated with germline RB1 variants and heritable disease. Most unilateral RBs are non-hereditary and carry RB1 somatic variants acquired during retinal development, but 10-15% of cases carry a germline variant conferring heritable disease risk to the affected family.
Fields of Study & Subjects
Ocular Oncology and Treatments
Retinal Development and Disorders
Genetic factors in colorectal cancer
Publication details
- Journal / source
- Genetics in Medicine Open
- Volume
- 4
- Pages
- 103568–103568
- Publication date
- 1 January 2026
- Language
- EN