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Article

Low penetrance of retinoblastoma for p.V654L mutation of the RB1 gene.

BMC medical genetics - 26 May 2011

Hung Chia-Cheng, Lin Shin-Yu, Lee Chien-Nan, Chen Chih-Ping, Lin Shuan-Pei, Chao Mei-Chyn, Chiou Shyh-Shin, Su Yi-Ning

Abstract excerpt

BACKGROUND: Retinoblastoma is caused by compound heterozygosity or homozygosity of retinoblastoma gene (RB1) mutations. In germline retinoblastoma, mutations in the RB1 gene predispose individuals to increased cancer risks during development. These mutations segregate as autosomal dominant traits with high penetrance (90%). METHODS: We screened 30 family members from one family using high resolution melting assay...

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Identifiers

PMID: 21615945
DOI: 10.1186/1471-2350-12-76
PMCID: PMC3119181

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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