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

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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...

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

Abstract excerpt

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