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Cyclin D1 splice site variant triggers chromosomal aberrations in healthy humans
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SYSNO ASEP 0432539 Document Type J - Journal Article R&D Document Type Journal Article Subsidiary J Článek ve WOS Title Cyclin D1 splice site variant triggers chromosomal aberrations in healthy humans Author(s) Hemminki, K. (DE)
Mušák, L. (SK)
Vymetálková, Veronika (UEM-P) RID
Šmerhovský, Z. (CZ)
Halásová, E. (SK)
Osina, O. (SK)
Letková, L. (SK)
Försti, A. (DE)
Vodičková, Ludmila (UEM-P) RID
Buchancová, J. (SK)
Vodička, Pavel (UEM-P) RIDSource Title Leukemia. - : Springer - ISSN 0887-6924
Roč. 28, č. 3 (2014), s. 721-722Number of pages 2 s. Language eng - English Country GB - United Kingdom Keywords chromosomal aberrations ; DNA repair Subject RIV EB - Genetics ; Molecular Biology Institutional support UEM-P - RVO:68378041 UT WOS 000332845700033 EID SCOPUS 84895826663 DOI 10.1038/leu.2013.353 Annotation The present results on 730 healthy individuals show that the cyclin D1 splice site polymorphism is associated with an increased frequency of lymphocyte CAs. The known biology of the splice site variant is consistent in assigning allele A, encoding isoform 1b, with an increased CA frequency as this isoform lacks DNA damage response. The present findings suggest a biological basis for the link between CAs and cancer risk. Moreover, they provide the first evidence on a genetic control of the overall CA frequency. Workplace Institute of Experimental Medicine Contact Lenka Koželská, lenka.kozelska@iem.cas.cz, Tel.: 241 062 218, 296 442 218 Year of Publishing 2015
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