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Structural Rearrangement of the Retinoblastoma Gene in Human Breast Carcinoma

SciencePublished 14 October 1988
Anne Tang, Jennifer M. Varley, Shikha Chakraborty, A. Linn Murphree, Yuen-Kai Fung
Citations411
SJR quartileQ1
SJR score10.42
SNIP6.62

TL;DR

The results further support the concept that the human RB1 gene has pleiotropic effects on specific types of cancer.

Abstract

Structural changes of the human retinoblastoma gene have been demonstrated previously in retinoblastoma and some clinically related tumors including osteosarcoma. Structural aberrations of the retinoblastoma locus (RB1) were observed in 25% of breast tumor cell lines studied and 7% of the primary tumors. These changes include homozygous internal deletions and total deletion of RB1; a duplication of an exon was observed in one of the cell lines. In all cases, structural changes either resulted in the absence or truncation of the RB1 transcript. No obvious defect in RB1 was detected by DNA blot analysis in primary tumors or cell lines from Wilms' tumor, cervical carcinoma, or hepatoma. These results further support the concept that the human RB1 gene has pleiotropic effects on specific types of cancer.

Keywords

Medicine