Source:http://linkedlifedata.com/resource/pubmed/id/15024726
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rdf:type | |
lifeskim:mentions | |
pubmed:issue |
4
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pubmed:dateCreated |
2004-3-16
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pubmed:databankReference | |
pubmed:abstractText |
Allelic deletions, which are suggestive for the presence of tumor suppressor genes, represent a common event in endometrial cancer (EC). Previous loss-of-heterozygosity studies for human chromosome 10q identified a candidate deletion interval at 10q25-q26, which we further narrowed to a 160-kb region at 10q26, bounded by markers D10S1236 and WIAF3299. Using a positional candidate approach, we identified three alternative transcripts of a novel human gene, CASC2 (cancer susceptibility candidate 2; formely C10orf5). One of such transcripts, CASC2a, encodes a short protein of 102 amino acids with no similarity to any other known gene product. Three (7%) CASC2a mutations were identified in tumor DNA from 44 EC patients. While c.-156G>T and c.22C>T (p.Pro8Ser) are sequence variants with unknown functional significance, c.84delA is a mutation with a truncation effect on the predicted protein (p. Asn28fsX50). Expression studies by real-time RT-PCR on several normal and tumor cells revealed that CASC2a mRNA is downregulated in cancer, suggesting that it may act as a potential tumor suppressor gene. The very low mutation rate seems to also indicate that inactivation of CASC2a might probably be due to mechanisms different from genetic alterations.
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pubmed:language |
eng
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pubmed:journal | |
pubmed:citationSubset |
IM
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pubmed:chemical | |
pubmed:status |
MEDLINE
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pubmed:month |
Apr
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pubmed:issn |
1098-1004
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pubmed:author |
pubmed-author:BaldinuPaolaP,
pubmed-author:CarboniAnnangelaA,
pubmed-author:CherchiPierLuigiP,
pubmed-author:CossuAntonioA,
pubmed-author:DeianaAngeloA,
pubmed-author:DessoleSalvatoreS,
pubmed-author:GianfrancescoFernandoF,
pubmed-author:MancaAntonellaA,
pubmed-author:PalmieriGiuseppeG,
pubmed-author:PintusAdrianaA,
pubmed-author:RozzoCarlaC,
pubmed-author:SattaMaria PMP,
pubmed-author:SiniMaria CMC,
pubmed-author:TandaFrancescoF
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pubmed:copyrightInfo |
Copyright 2004 Wiley-Liss, Inc.
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pubmed:issnType |
Electronic
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pubmed:volume |
23
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pubmed:owner |
NLM
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pubmed:authorsComplete |
Y
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pubmed:pagination |
318-26
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pubmed:dateRevised |
2006-11-15
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pubmed:meshHeading |
pubmed-meshheading:15024726-Carcinoma,
pubmed-meshheading:15024726-Cell Line, Tumor,
pubmed-meshheading:15024726-Chromosomes, Human, Pair 10,
pubmed-meshheading:15024726-DNA Mutational Analysis,
pubmed-meshheading:15024726-Endometrial Neoplasms,
pubmed-meshheading:15024726-Female,
pubmed-meshheading:15024726-Genetic Predisposition to Disease,
pubmed-meshheading:15024726-Humans,
pubmed-meshheading:15024726-Loss of Heterozygosity,
pubmed-meshheading:15024726-RNA, Messenger,
pubmed-meshheading:15024726-Sequence Analysis,
pubmed-meshheading:15024726-Tissue Distribution,
pubmed-meshheading:15024726-Tumor Cells, Cultured,
pubmed-meshheading:15024726-Tumor Suppressor Proteins
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pubmed:year |
2004
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pubmed:articleTitle |
Identification of a novel candidate gene, CASC2, in a region of common allelic loss at chromosome 10q26 in human endometrial cancer.
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pubmed:affiliation |
Istituto di Anatomia Patologica, Università di Sassari, Via Matteotti, Sassari, Italy.
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pubmed:publicationType |
Journal Article,
Research Support, Non-U.S. Gov't
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