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Article

Expanding the RB1 variant landscape of heritable retinoblastoma: unlocking precision oncology potential in Southern Africa.

BMC cancer - 28 Feb 2026

van Rensburg Indiana, Mustak Hamzah, Benefeld Gameda, Cunnama Lucy, Abrahamse-Pillay Helga, Ramesar Raj, Roberts Lisa

Abstract excerpt

BACKGROUND: Retinoblastoma (Rb) is the most common childhood intraocular cancer, with heritable forms caused by pathogenic germline variants in the RB1 (or retinoblastoma 1) gene, which necessitate intensive and costly lifelong surveillance. Genetic testing enables precise risk prediction and individualized clinical management, yet data on the RB1 variant spectrum in African populations remains scarce. This study...

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Identifiers

PMID: 41764457
DOI: 10.1186/s12885-026-15789-7
PMCID: PMC12983656

Genes

RB1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026.

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