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Science 8 July 1988: Vol. 241. no. 4862, pp. 218 - 221 DOI: 10.1126/science.3388033
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Articles
Science, Vol 241, Issue 4862, 218-221
Copyright © 1988 by American Association for the Advancement of Science
Inactivation of the retinoblastoma susceptibility gene in human breast cancers
EY Lee,
H To,
JY Shew,
R Bookstein,
P Scully,
and
WH Lee
Department of Pathology, School of Medicine, University of California, San Diego, La Jolla 92093.
Mutational inactivation of the retinoblastoma susceptibility (RB) gene, a recessive cancer gene, has been implicated in the genesis of retinoblastoma and certain other human neoplasms. This gene is now shown to be inactivated in two of nine human breast cancer cell lines examined. The RB gene of one cell line had a homozygous internal duplication of a 5-kilobase region containing exons 5 and 6. The RB messenger RNA transcript was correspondingly lengthened, and its translation was probably terminated prematurely due to a shifted reading frame. The other cell line had a homozygous deletion of the RB gene that removed the entire gene beyond exon 2. The RB gene product, pp110RB, was not detectable in either cell line by immuno-precipitation with specific antibodies. These findings are significant in relation to proposed genetic mechanisms of breast cancer formation.
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