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Cyclin D1 splice site variant triggers chromosomal aberrations in healthy humans
- 1.0432539 - ÚEM 2015 RIV GB eng J - Journal Article
Hemminki, K. - Mušák, L. - Vymetálková, Veronika - Šmerhovský, Z. - Halásová, E. - Osina, O. - Letková, L. - Försti, A. - Vodičková, Ludmila - Buchancová, J. - Vodička, Pavel
Cyclin D1 splice site variant triggers chromosomal aberrations in healthy humans.
Leukemia. Roč. 28, č. 3 (2014), s. 721-722. ISSN 0887-6924. E-ISSN 1476-5551
Institutional support: RVO:68378041
Keywords : chromosomal aberrations * DNA repair
Subject RIV: EB - Genetics ; Molecular Biology
Impact factor: 10.431, year: 2014
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.
Permanent Link: http://hdl.handle.net/11104/0236882
Number of the records: 1