Oncogene. 1991 Dec;6(12):2353-6.

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

Weir-Thompson E, Condie A, Leonard RC, Prosser J.

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MRC Human Genetics Unit, Western General Hospital, Edinburgh, UK.

Abstract

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 the constitutional mutation, a G----A transition at the fifth base of intron 21, resulting in the excision of exon 21 from the mRNA. This is the first demonstration of homozygotization of a constitutional RB mutation in a metastatic second primary tumour and underlines the usefulness of the HOT technique for identification of mutations of the RB1 gene.

PMID:: 1662795; [PubMed - indexed for MEDLINE]

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Mechanisms of oncogenesis in patients with familial retinoblastoma. [Br J Cancer. 1993]
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Onadim Z, Hogg A, Cowell JK. Br J Cancer. 1993 Nov; 68(5):958-64.
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