2026-04-30T06:56:24Zhttps://repisalud.isciii.es/rest/oai/requestoai:repisalud.isciii.es:20.500.12105/107702024-11-29T23:23:36Zcom_20.500.12105_2173com_20.500.12105_2051col_20.500.12105_19597
Repisalud
author
Benitez-Buelga, Carlos
author
Vaclová, Tereza
author
Ferreira, Sofia
author
Urioste, Miguel
author
Inglada-Perez, Lucia
author
Soberón, Nora
author
Blasco, MA
author
Osorio, Ana
author
Benitez, Javier
funder
Unión Europea. Fondo Europeo de Desarrollo Regional (FEDER/ERDF)
funder
Centro de Investigación Biomédica en Red - CIBERER (Enfermedades Raras)
funder
Unión Europea. Comisión Europea. European Research Council (ERC)
funder
Ministerio de Ciencia e Innovación (España)
funder
Botín Foundation
funder
Fundación Lilly
2020-07-14T11:56:43Z
2020-07-14T11:56:43Z
2016-05-03
Oncotarget . 2016;7(18):25815-25
10.18632/oncotarget.8272
1949-2553
Oncotarget
27015555
http://hdl.handle.net/20.500.12105/10770
We have recently shown that rs2304277 variant in the OGG1 glycosidase gene of the Base Excision Repair pathway can increase ovarian cancer risk in BRCA1 mutation carriers. In the present study, we aimed to explore the role of this genetic variant on different genome instability hallmarks to explain its association with cancer risk.We have evaluated the effect of this polymorphism on OGG1 transcriptional regulation and its contribution to telomere shortening and DNA damage accumulation. For that, we have used a series of 89 BRCA1 and BRCA2 mutation carriers, 74 BRCAX cases, 60 non-carrier controls and 23 lymphoblastoid cell lines (LCL) derived from BRCA1 mutation carriers and non-carriers.We have identified that this SNP is associated to a significant OGG1 transcriptional down regulation independently of the BRCA mutational status and that the variant may exert a synergistic effect together with BRCA1 or BRCA2 mutations on DNA damage and telomere shortening.These results suggest that this variant, could be associated to a higher cancer risk in BRCA1 mutation carriers, due to an OGG1 transcriptional down regulation and its effect on genome instability.
eng
Molecular insights into the OGG1 gene, a cancer risk modifier in BRCA1 and BRCA2 mutations carriers.
journal article
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URL
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MolecularinsightsintotheOGG1_2016.pdf
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MolecularinsightsintotheOGG1_2016.pdf.txt
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