A familial RB1 mutation detected by the HOT technique is homozygous in a second primary neoplasm.

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Article

A familial RB1 mutation detected by the HOT technique is homozygous in a second primary neoplasm.

Oncogene - 1 Dec 1991

Weir-Thompson E, Condie A, Leonard R C, Prosser J

Abstract excerpt

Using the hydroxylamine-osmium tetroxide (HOT) technique, we have identified a constitutional point mutation in the retinoblastoma susceptibility gene (RB1) which segregates with the expression of retinoblastoma in five affected family members. One member developed a second primary tumor, a small-cell lung carcinoma (SCLC), which metastasized to the liver. Analysis of liver tumour DNA revealed homozygosity for...

Topics

Adult
Base Sequence
Carcinoma, Small Cell
Exons
Eye Neoplasms
Female
Genes, Retinoblastoma
Genetic Techniques
Homozygote
Humans
Hydroxylamine
Hydroxylamines

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Lung Neoplasms

Male

Molecular Sequence Data

Mutation

Oligodeoxyribonucleotides

Osmium Tetroxide

Source

Open in PubMed

Identifiers

PMID: 1662795

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 29 Aug 2026. Prepared record publication-1662795-2026-08-29.1. Manifest publication-graph-cohort-2026-08-29.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 29 Aug 2026.

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