Common polymorphic inversions at 17q21.31 and 8p23.1 associate with cancer prognosis
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- dc.contributor.author Ruiz-Arenas, Carlos
- dc.contributor.author Cáceres, Alejandro
- dc.contributor.author Moreno, Víctor
- dc.contributor.author González, Juan Ramón
- dc.date.accessioned 2020-07-22T06:39:02Z
- dc.date.available 2020-07-22T06:39:02Z
- dc.date.issued 2019
- dc.description.abstract Background: Chromosomal inversions are structural genetic variants where a chromosome segment changes its orientation. While sporadic de novo inversions are known genetic risk factors for cancer susceptibility, it is unknown if common polymorphic inversions are also associated with the prognosis of common tumors, as they have been linked to other complex diseases. We studied the association of two well-characterized human inversions at 17q21.31 and 8p23.1 with the prognosis of lung, liver, breast, colorectal, and stomach cancers. Results: Using data from The Cancer Genome Atlas (TCGA), we observed that inv8p23.1 was associated with overall survival in breast cancer and that inv17q21.31 was associated with overall survival in stomach cancer. In the meta-analysis of two independent studies, inv17q21.31 heterozygosity was significantly associated with colorectal disease-free survival. We found that the association was mediated by the de-methylation of cg08283464 and cg03999934, also linked to lower disease-free survival. Conclusions: Our results suggest that chromosomal inversions are important genetic factors of tumor prognosis, likely affecting changes in methylation patterns.
- dc.format.mimetype application/pdf
- dc.identifier.citation Ruiz-Arenas C, Cáceres A, Moreno V, González JR. Common polymorphic inversions at 17q21.31 and 8p23.1 associate with cancer prognosis. Hum Genomics. 2019; 13(1):57. DOI: 10.1186/s40246-019-0242-2
- dc.identifier.doi http://dx.doi.org/10.1186/s40246-019-0242-2
- dc.identifier.issn 1473-9542
- dc.identifier.uri http://hdl.handle.net/10230/45150
- dc.language.iso eng
- dc.publisher BioMed Central
- dc.relation.ispartof Hum Genomics. 2019; 13(1):57
- dc.rights © The Author(s). 2019 Open Access This article is distributed under the terms of the Creative Commons Attribution 4.0 International License (http://creativecommons.org/licenses/by/4.0/), which permits unrestricted use, distribution, and reproduction in any medium, provided you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons license, and indicate if changes were made. The Creative Commons Public Domain Dedication waiver (http://creativecommons.org/publicdomain/zero/1.0/) applies to the data made available in this article, unless otherwise stated.
- dc.rights.accessRights info:eu-repo/semantics/openAccess
- dc.rights.uri http://creativecommons.org/licenses/by/4.0/
- dc.subject.keyword Cancer prognosis
- dc.subject.keyword Chromosomal inversions
- dc.subject.keyword DNA methylation
- dc.subject.keyword Gene expression
- dc.subject.keyword Genetic epidemiology
- dc.title Common polymorphic inversions at 17q21.31 and 8p23.1 associate with cancer prognosis
- dc.type info:eu-repo/semantics/article
- dc.type.version info:eu-repo/semantics/publishedVersion