http://www.cnr.it/ontology/cnr/individuo/prodotto/ID167374
Identification of a novel candidate gene, CASC2, in a region of common allelic loss at chromosome 10q26 in human endometrial cancer. (Articolo in rivista)
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- Identification of a novel candidate gene, CASC2, in a region of common allelic loss at chromosome 10q26 in human endometrial cancer. (Articolo in rivista) (literal)
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- 2004-01-01T00:00:00+01:00 (literal)
- Http://www.cnr.it/ontology/cnr/pubblicazioni.owl#doi
- 10.1002/humu.20015 (literal)
- Alternative label
Baldinu P; Cossu A; Manca A; Satta MP; Sini MC; Rozzo C; Dessole S; Cherchi P; Gianfrancesco F; Pintus A; Carboni A; Deiana A; Tanda F; Palmieri G (2004)
Identification of a novel candidate gene, CASC2, in a region of common allelic loss at chromosome 10q26 in human endometrial cancer.
in Human mutation; Wiley-Liss, New York (Stati Uniti d'America)
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- Baldinu P; Cossu A; Manca A; Satta MP; Sini MC; Rozzo C; Dessole S; Cherchi P; Gianfrancesco F; Pintus A; Carboni A; Deiana A; Tanda F; Palmieri G (literal)
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- Istituto di Anatomia Patologica, Universita` di Sassari, Via Matteotti, Sassari, Italy; Istituto di Chimica Biomolecolare-Sezione di Sassari, Consiglio Nazionale delle Ricerche, Localita` Tramariglio, Santa Maria La Palma (SS), Italy; Dipartimento di Ostetricia e Ginecologia, Universita`di Sassari, Viale San Pietro, Sassari, Italy; Istituto di Genetica delle Popolazioni, Consiglio Nazionale Ricerche, Localita` Tramariglio, Santa MariaLa Palma (SS), Italy (literal)
- Titolo
- Identification of a novel candidate gene, CASC2, in a region of common allelic loss at chromosome 10q26 in human endometrial cancer. (literal)
- Abstract
- 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.-156G4Tand c.22C4T (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. (literal)
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