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Article

Subset of retinoblastoma tumours is associated with BRCA1/2 mutations.

The British journal of ophthalmology - 20 Jun 2024

Kim Yong Joon, Park Hyo Song, Youk Jeonghwan, Han Jung Woo, Byeon Suk Ho, Kim Sung Soo, Ju Young Seok, Lee Christopher Seungkyu

Abstract excerpt

BACKGROUND: We investigated the potential association between pathogenic BRCA1/2 variants and retinoblastoma pathogenicity. METHODS: In this single-centre, retrospective case series, we performed hereditary cancer panel tests using blood samples for patients with retinoblastoma diagnosed between March 2017 and October 2021. Bioinformatics prediction tools were then used to conduct in silico pathogenicity...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 37833038
DOI: 10.1136/bjo-2023-323388

Genes

BRCA1
RB1
BRIP1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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