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Mutational Analysis of the Candidate Tumor Suppressor Genes TEL and KIP1 in Childhood Acute Lymphoblastic Leukemia

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TLDR
The exon organization of the TEL gene is determined and mutational analysis of TEL and KIP1 are performed in 33 childhood ALL patients known to have loss of heterozygosity at this locus; this suggest that neither TEL nor Kip1 is the critical 12p tumor suppressor gene in childhood ALL.
Abstract
We have shown previously that loss of heterozygosity at chromosome band 12p13 is among the most frequent genetic abnormalities identified in acute lymphoblastic leukemia (ALL) of childhood. Two known genes map within the critically deleted region of 12p: TEL, the gene encoding a new member of the ETS family of transcription factors, which is rearranged in a variety of hematological malignancies; and KIP1, the gene encoding the cyclin-dependent kinase inhibitor p27. Both genes are, therefore, excellent candidate tumor suppressor genes. In this report, we determined the exon organization of the TEL gene and performed mutational analysis of TEL and KIP1 in 33 childhood ALL patients known to have loss of heterozygosity at this locus. No mutations in either TEL or KIP1 were found; this suggests that neither TEL nor KIP1 is the critical 12p tumor suppressor gene in childhood ALL.

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Increased proteasome-dependent degradation of the cyclin-dependent kinase inhibitor p27 in aggressive colorectal carcinomas.

TL;DR: It was found that carcinomas with low or absent p27 protein displayed enhanced proteolytic activity specific for p27, suggesting that low p27 expression can result from increased proteasome-mediated degradation rather than altered gene expression.
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The murine gene p27Kip1 is haplo-insufficient for tumour suppression

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References
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Mutation and Cancer: Statistical Study of Retinoblastoma

TL;DR: The hypothesis is developed that retinoblastoma is a cancer caused by two mutational events, in the dominantly inherited form, one mutation is inherited via the germinal cells and the second occurs in somatic cells.
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Detection of polymorphisms of human DNA by gel electrophoresis as single-strand conformation polymorphisms

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Journal ArticleDOI

The p53 tumour suppressor gene

TL;DR: The cell cycle is composed of a series of steps which can be negatively or postively regulated by various factors, chief among the negative regulators is the p53 protein, which can lead to cancer.
Journal ArticleDOI

A human DNA segment with properties of the gene that predisposes to retinoblastoma and osteosarcoma

TL;DR: The isolation of a complementary DNA segment that detects a chromosomal segment having the properties of the gene at this locus is described, which is expressed in many tumour types, but no RNA transcript has been found in retinoblastomas and osteosarcomas.
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