Hereditary retinoblastoma
MONDO:0018160An autosomal dominant disorder caused by pathogenic variants in the RB1 gene, characterized by an increased risk of retinoblastoma in early childhood. Individuals with hereditary retinoblastoma also have an increased risk of developing secondary cancers, such as osteosarcoma, melanoma and carcinomas in childhood and adulthood.
Also known as: RB1, RB1-related retinoblastoma predisposition, familial retinoblastoma, hereditary retinoblastoma, retinoblastoma, autosomal dominant, somatic mutation, retinoblastoma, trilateral, autosomal dominant, somatic mutation
2880 clinical trials for this condition and its sub-types, 2 tagged with Hereditary retinoblastoma itself.
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Can Full-Body scans spot cancer early in High-Risk families?
Diagnosis OngoingThis study is testing whether whole body MRI scans can help find cancers early in children and adults with Li-Fraumeni syndrome, a genetic condition that greatly raises cancer risk. About 150 participants will receive annual whole body MRI scans for four years to see if they keep…
Sponsor: Dana-Farber Cancer Institute • Aim: Diagnosis
Last updated Jun 27, 2026 08:08 UTC
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Can yearly MRIs catch second cancers in retinoblastoma survivors?
Knowledge-focused OngoingThis study looks at whether yearly MRI scans can find new head and neck or brain cancers early in people who had hereditary retinoblastoma and were treated with radiation. Researchers will follow 88 participants for 10 years to see if early detection leads to better surgery outco…
Sponsor: Institut Curie • Aim: Knowledge-focused
Last updated Jun 26, 2026 16:56 UTC