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  Frequent mutations in chromatin-remodelling genes in pulmonary carcinoids

Fernandez-Cuesta, L., Peifer, M., Lu, X., Sun, R., Ozretic, L., Seidel, D., et al. (2014). Frequent mutations in chromatin-remodelling genes in pulmonary carcinoids. Nature Communications, 5: 5:3518. doi:10.1038/ncomms4518.

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Item Permalink: http://hdl.handle.net/11858/00-001M-0000-0025-1F6D-A Version Permalink: http://hdl.handle.net/11858/00-001M-0000-0025-1F77-0
Genre: Journal Article

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© 2014 Macmillan Publishers Limited
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 Creators:
Fernandez-Cuesta, L., Author
Peifer, M., Author
Lu, X., Author
Sun, R.1, Author              
Ozretic, L., Author
Seidel, D., Author
Zander, T., Author
Leenders, F., Author
George, J., Author
Müller, C., Author
Dahmen, I., Author
Pinther, B., Author
Bosco, G., Author
Konrad, K., Author
Altmüller, J., Author
Nürnberg, P., Author
Achter, V., Author
Lang, U., Author
Schneider, P. M., Author
Bogus, M., Author
Soltermann, A., AuthorBrustugun, O. T., AuthorHelland, A., AuthorSolberg, S., AuthorLund-Iversen, M., AuthorAnsen, S., AuthorStoelben, E., AuthorWright, G. M., AuthorRussell, P., AuthorWainer, Z., AuthorSolomon, B., AuthorField, J. K., AuthorHyde, R., AuthorDavies, M. P., AuthorHeukamp, L. C., AuthorPetersen, I., AuthorPerner, S., AuthorLovly, C. M., AuthorCappuzzo, F., AuthorTravis, W. D., AuthorWolf, J., AuthorVingron, M.2, Author              Brambilla, E., AuthorHaas, S. A.1, Author              Buettner, R., AuthorThomas, R. K., Author more..
Affiliations:
1Gene Structure and Array Design (Stefan Haas), Dept. of Computational Molecular Biology (Head: Martin Vingron), Max Planck Institute for Molecular Genetics, Max Planck Society, ou_1479640              
2Gene regulation (Martin Vingron), Dept. of Computational Molecular Biology (Head: Martin Vingron), Max Planck Institute for Molecular Genetics, Max Planck Society, ou_1479639              

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Free keywords: Adolescent Adult Aged Base Sequence Carcinoid Tumor/*genetics/pathology Chromatin Assembly and Disassembly/*genetics Chromosome Mapping DNA Copy Number Variations Exome/genetics Female Gene Dosage Gene Expression Profiling Gene Expression Regulation, Neoplastic Genome, Human/genetics Humans Lung Neoplasms/*genetics/pathology Male Middle Aged Molecular Sequence Data *Mutation Polymorphism, Single Nucleotide Sequence Analysis, DNA Young Adult
 Abstract: Pulmonary carcinoids are rare neuroendocrine tumours of the lung. The molecular alterations underlying the pathogenesis of these tumours have not been systematically studied so far. Here we perform gene copy number analysis (n=54), genome/exome (n=44) and transcriptome (n=69) sequencing of pulmonary carcinoids and observe frequent mutations in chromatin-remodelling genes. Covalent histone modifiers and subunits of the SWI/SNF complex are mutated in 40 and 22.2% of the cases, respectively, with MEN1, PSIP1 and ARID1A being recurrently affected. In contrast to small-cell lung cancer and large-cell neuroendocrine lung tumours, TP53 and RB1 mutations are rare events, suggesting that pulmonary carcinoids are not early progenitor lesions of the highly aggressive lung neuroendocrine tumours but arise through independent cellular mechanisms. These data also suggest that inactivation of chromatin-remodelling genes is sufficient to drive transformation in pulmonary carcinoids.

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Language(s): eng - English
 Dates: 2014-02-262014-03-27
 Publication Status: Published online
 Pages: -
 Publishing info: -
 Table of Contents: -
 Rev. Method: Peer
 Identifiers: DOI: 10.1038/ncomms4518
ISSN: 2041-1723 (Electronic)
 Degree: -

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Title: Nature Communications
  Abbreviation : Nat. Commun.
Source Genre: Journal
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Publ. Info: London : Nature Publishing Group
Pages: - Volume / Issue: 5 Sequence Number: 5:3518 Start / End Page: - Identifier: ISSN: 2041-1723
CoNE: https://pure.mpg.de/cone/journals/resource/2041-1723