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Genomic profiling of malignant melanoma using tiling-resolution arrayCGH.

Jönsson, Göran B LU ; Dahl, C; Staaf, Johan LU ; Törngren, Therese LU ; Bendahl, Pär-Ola LU ; Ringnér, Markus LU ; Guldberg, P and Borg, Åke LU (2007) In Oncogene 26(32). p.4738-4748
Abstract
Malignant melanoma is an aggressive, heterogeneous disease where new biomarkers for diagnosis and clinical outcome are needed. We searched for chromosomal aberrations that characterize its pathogenesis using 47 different melanoma cell lines and tiling-resolution bacterial artificial chromosome-arrays for comparative genomic hybridization. Major melanoma genes, including BRAF, NRAS, CDKN2A, TP53, CTNNB1, CDK4 and PTEN, were examined for mutations. Distinct copy number alterations were detected, including loss or gain of whole chromosomes but also minute amplifications and homozygous deletions. Most common overlapping regions with losses were mapped to 9p24.3–q13, 10 and 11q14.1-qter, whereas copy number gains were most frequent on... (More)
Malignant melanoma is an aggressive, heterogeneous disease where new biomarkers for diagnosis and clinical outcome are needed. We searched for chromosomal aberrations that characterize its pathogenesis using 47 different melanoma cell lines and tiling-resolution bacterial artificial chromosome-arrays for comparative genomic hybridization. Major melanoma genes, including BRAF, NRAS, CDKN2A, TP53, CTNNB1, CDK4 and PTEN, were examined for mutations. Distinct copy number alterations were detected, including loss or gain of whole chromosomes but also minute amplifications and homozygous deletions. Most common overlapping regions with losses were mapped to 9p24.3–q13, 10 and 11q14.1-qter, whereas copy number gains were most frequent on chromosomes 1q, 7, 17q and 20q. Amplifications were delineated to oncogenes such as MITF (3p14), CCND1 (11q13), MDM2 (12q15), CCNE1 (19q12) and NOTCH2 (1p12). Frequent findings of homozygous deletions on 9p21 and 10q23 confirmed the importance of CDKN2A and PTEN. Pair-wise comparisons revealed distinct sets of alterations, for example, mutually exclusive mutations in BRAF and NRAS, mutual mutations in BRAF and PTEN, concomitant chromosome 7 gain and 10 loss and concomitant chromosome 15q22.2–q26.3 gain and 20 gain. Moreover, alterations of the various melanoma genes were associated with distinct chromosomal imbalances suggestive of specific genomic programs in melanoma development. (Less)
Please use this url to cite or link to this publication:
author
organization
publishing date
type
Contribution to journal
publication status
published
subject
keywords
melanoma, mutation, arrayCGH
in
Oncogene
volume
26
issue
32
pages
4738 - 4748
publisher
Nature Publishing Group
external identifiers
  • wos:000248037900015
  • scopus:34447515273
ISSN
1476-5594
DOI
10.1038/sj.onc.1210252
project
CREATE Health
language
English
LU publication?
yes
id
034ebc9b-033e-467d-ac16-28a59f478057 (old id 164594)
alternative location
http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=17260012&dopt=Abstract
date added to LUP
2007-07-16 10:09:08
date last changed
2017-10-08 03:41:43
@article{034ebc9b-033e-467d-ac16-28a59f478057,
  abstract     = {Malignant melanoma is an aggressive, heterogeneous disease where new biomarkers for diagnosis and clinical outcome are needed. We searched for chromosomal aberrations that characterize its pathogenesis using 47 different melanoma cell lines and tiling-resolution bacterial artificial chromosome-arrays for comparative genomic hybridization. Major melanoma genes, including BRAF, NRAS, CDKN2A, TP53, CTNNB1, CDK4 and PTEN, were examined for mutations. Distinct copy number alterations were detected, including loss or gain of whole chromosomes but also minute amplifications and homozygous deletions. Most common overlapping regions with losses were mapped to 9p24.3–q13, 10 and 11q14.1-qter, whereas copy number gains were most frequent on chromosomes 1q, 7, 17q and 20q. Amplifications were delineated to oncogenes such as MITF (3p14), CCND1 (11q13), MDM2 (12q15), CCNE1 (19q12) and NOTCH2 (1p12). Frequent findings of homozygous deletions on 9p21 and 10q23 confirmed the importance of CDKN2A and PTEN. Pair-wise comparisons revealed distinct sets of alterations, for example, mutually exclusive mutations in BRAF and NRAS, mutual mutations in BRAF and PTEN, concomitant chromosome 7 gain and 10 loss and concomitant chromosome 15q22.2–q26.3 gain and 20 gain. Moreover, alterations of the various melanoma genes were associated with distinct chromosomal imbalances suggestive of specific genomic programs in melanoma development.},
  author       = {Jönsson, Göran B and Dahl, C and Staaf, Johan and Törngren, Therese and Bendahl, Pär-Ola and Ringnér, Markus and Guldberg, P and Borg, Åke},
  issn         = {1476-5594},
  keyword      = {melanoma,mutation,arrayCGH},
  language     = {eng},
  number       = {32},
  pages        = {4738--4748},
  publisher    = {Nature Publishing Group},
  series       = {Oncogene},
  title        = {Genomic profiling of malignant melanoma using tiling-resolution arrayCGH.},
  url          = {http://dx.doi.org/10.1038/sj.onc.1210252},
  volume       = {26},
  year         = {2007},
}