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Sökning: onr:"swepub:oai:lup.lub.lu.se:7429c8e4-f3e3-4a15-b560-c9959c6ccf83" > Tiling resolution a...

LIBRIS Formathandbok  (Information om MARC21)
FältnamnIndikatorerMetadata
00007006naa a2200445 4500
001oai:lup.lub.lu.se:7429c8e4-f3e3-4a15-b560-c9959c6ccf83
003SwePub
008160404s2008 | |||||||||||000 ||eng|
0247 a https://lup.lub.lu.se/record/10423852 URI
0247 a https://doi.org/10.1186/1755-8794-1-32 DOI
040 a (SwePub)lu
041 a engb eng
042 9 SwePub
072 7a art2 swepub-publicationtype
072 7a ref2 swepub-contenttype
1001 a Heidenblad, Markusu Lund University,Lunds universitet,Avdelningen för klinisk genetik,Institutionen för laboratoriemedicin,Medicinska fakulteten,Division of Clinical Genetics,Department of Laboratory Medicine,Faculty of Medicine4 aut0 (Swepub:lu)kgen-mhd
2451 0a Tiling resolution array CGH and high density expression profiling of urothelial carcinomas delineate genomic amplicons and candidate target genes specific for advanced tumors.
264 c 2008-01-31
264 1b Springer Science and Business Media LLC,c 2008
338 a electronic2 rdacarrier
520 a ABSTRACT: BACKGROUND: Urothelial carcinoma (UC) is characterized by nonrandom chromosomal aberrations, varying from one or a few changes in early-stage and low-grade tumors, to highly rearranged karyotypes in muscle-invasive lesions. Recent array-CGH analyses have shed further light on the genomic changes underlying the neoplastic development of UC, and have facilitated the molecular delineation amplified and deleted regions to the level of specific candidate genes. In the present investigation we combine detailed genomic information with expression information to identify putative target genes for genomic amplifications. METHODS: We analyzed 38 urothelial carcinomas by whole-genome tiling resolution array-CGH and high density expression profiling to identify putative target genes in common genomic amplifications. When necessary expression profiling was complemented with Q-PCR of individual genes. RESULTS: Three genomic segments were frequently and exclusively amplified in high grade tumors; 1q23, 6p22 and 8q22, respectively. Detailed mapping of the 1q23 segment showed a heterogeneous amplification pattern and no obvious commonly amplified region. The 6p22 amplicon was defined by a 1.8 Mb core region present in all amplifications, flanked both distally and proximally by segments amplified to a lesser extent. By combining genomic profiles with expression profiles we could show that amplification of E2F3, CDKAL1, SOX4, and MBOAT1 as well as NUP153, AOF1, FAM8A1 and DEK in 6p22 was associated with increased gene expression. Amplification of the 8q22 segment was primarily associated with YWHAZ (14-3-3-zeta) and POLR2K over expression. The possible importance of the YWHA genes in the development of urothelial carcinomas was supported by another recurrent amplicon paralogous to 8q22, in 2p25, where increased copy numbers lead to enhanced expression of YWHAQ (14-3-3-theta). Homozygous deletions were identified at 10 different genomic locations, most frequently affecting CDKN2A/CDKN2B in 9p21 (32%). Notably, the latter occurred mutually exclusive with 6p22 amplifications. CONCLUSION: The presented data indicates 6p22 as a composite amplicon with more than one possible target gene. The data also suggests that amplification of 6p22 and homozygous deletions of 9p21 may have complementary roles. Furthermore, the analysis of paralogous regions that showed genomic amplification indicated altered expression of YWHA (14-3-3) genes as important events in the development of UC.
650 7a MEDICIN OCH HÄLSOVETENSKAPx Medicinska och farmaceutiska grundvetenskaperx Medicinsk genetik0 (SwePub)301072 hsv//swe
650 7a MEDICAL AND HEALTH SCIENCESx Basic Medicinex Medical Genetics0 (SwePub)301072 hsv//eng
7001 a Lindgren, Davidu Lund University,Lunds universitet,Bröstcancer-genetik,Sektion I,Institutionen för kliniska vetenskaper, Lund,Medicinska fakulteten,Avdelningen för klinisk genetik,Institutionen för laboratoriemedicin,Breastcancer-genetics,Section I,Department of Clinical Sciences, Lund,Faculty of Medicine,Division of Clinical Genetics,Department of Laboratory Medicine4 aut0 (Swepub:lu)kgen-dli
7001 a Jonson, Tordu Lund University,Lunds universitet,Avdelningen för klinisk genetik,Institutionen för laboratoriemedicin,Medicinska fakulteten,Division of Clinical Genetics,Department of Laboratory Medicine,Faculty of Medicine4 aut0 (Swepub:lu)kgen-tjo
7001 a Liedberg, Fredriku Lund University,Lunds universitet,Bröstcancer-genetik,Sektion I,Institutionen för kliniska vetenskaper, Lund,Medicinska fakulteten,Urologi,Forskargrupper vid Lunds universitet,Breastcancer-genetics,Section I,Department of Clinical Sciences, Lund,Faculty of Medicine,Urology,Lund University Research Groups4 aut0 (Swepub:lu)urok-fli
7001 a Veerla, Srinivasu Lund University,Lunds universitet,Bröstcancer-genetik,Sektion I,Institutionen för kliniska vetenskaper, Lund,Medicinska fakulteten,Avdelningen för klinisk genetik,Institutionen för laboratoriemedicin,Breastcancer-genetics,Section I,Department of Clinical Sciences, Lund,Faculty of Medicine,Division of Clinical Genetics,Department of Laboratory Medicine4 aut0 (Swepub:lu)klin-sve
7001 a Chebil, Gunilla4 aut
7001 a Gudjonsson, Sigurduru Lund University,Lunds universitet,Urologi,Forskargrupper vid Lunds universitet,Urology,Lund University Research Groups4 aut0 (Swepub:lu)urok-sgu
7001 a Borg, Åkeu Lund University,Lunds universitet,Bröstcancer-genetik,Sektion I,Institutionen för kliniska vetenskaper, Lund,Medicinska fakulteten,Breastcancer-genetics,Section I,Department of Clinical Sciences, Lund,Faculty of Medicine4 aut0 (Swepub:lu)onk-abo
7001 a Månsson, Wikingu Lund University,Lunds universitet,Urologi,Forskargrupper vid Lunds universitet,Urology,Lund University Research Groups4 aut0 (Swepub:lu)uro-wma
7001 a Höglund, Mattiasu Lund University,Lunds universitet,Bröstcancer-genetik,Sektion I,Institutionen för kliniska vetenskaper, Lund,Medicinska fakulteten,Avdelningen för klinisk genetik,Institutionen för laboratoriemedicin,Breastcancer-genetics,Section I,Department of Clinical Sciences, Lund,Faculty of Medicine,Division of Clinical Genetics,Department of Laboratory Medicine4 aut0 (Swepub:lu)kgen-mho
7102 a Avdelningen för klinisk genetikb Institutionen för laboratoriemedicin4 org
7730 t BMC Medical Genomicsd : Springer Science and Business Media LLCg 1:Jan 31q 1:Jan 31x 1755-8794
8564 u https://portal.research.lu.se/files/5269499/1055618.pdfx primaryx freey FULLTEXT
8564 u http://www.ncbi.nlm.nih.gov/pubmed/18237450?dopt=Abstracty FULLTEXT
8564 u http://dx.doi.org/10.1186/1755-8794-1-3y FULLTEXT
8564 u https://bmcmedgenomics.biomedcentral.com/track/pdf/10.1186/1755-8794-1-3
8564 8u https://lup.lub.lu.se/record/1042385
8564 8u https://doi.org/10.1186/1755-8794-1-3

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