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Article

Genetics and epigenetics of human retinoblastoma.

Annual review of pathology - 1 Jan 2015

Benavente Claudia A, Dyer Michael A

Abstract excerpt

Retinoblastoma is a pediatric tumor of the developing retina from which the genetic basis for cancer development was first described. Inactivation of both copies of the RB1 gene is the predominant initiating genetic lesion in retinoblastoma and is rate limiting for tumorigenesis. Recent whole-genome sequencing of retinoblastoma uncovered a tumor that had no coding-region mutations or focal chromosomal lesions...

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Identifiers

PMID: 25621664
DOI: 10.1146/annurev-pathol-012414-040259

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Source receipt: pubmed, retrieved 7 Sept 2026.

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