- Title
- A novel polymorphic repeat in the upstream regulatory region of the estrogen-induced gene EIG121 is not associated with the risk of developing breast or endometrial cancer
- Creator
- Bolton, Katherine A.; Holliday, Elizabeth G.; Attia, John; Bowden, Nikola A.; Avery-Kiejda, Kelly A.; Scott, Rodney J.
- Relation
- BMC Research Notes Vol. 9, Issue 1
- Publisher Link
- http://dx.doi.org/10.1186/s13104-016-2086-3
- Publisher
- BioMed Central
- Resource Type
- journal article
- Date
- 2016
- Description
- Background: The estrogen-induced gene 121 (EIG121) has been associated with breast and endometrial cancers, but its mechanism of action remains unknown. In a genome-wide search for tandem repeats, we found that EIG121 contains a short tandem repeat (STR) in its upstream regulatory region which has the potential to alter gene expression. The presence of this STR has not previously been analysed in relation to breast or endometrial cancer risk. Results: In this study, the lengths of this STR were determined by PCR, fragment analysis and sequencing using DNA from 223 breast cancer patients, 204 endometrial cancer patients and 220 healthy controls to determine if they were associated with the risk of developing breast or endometrial cancer. We found this repeat to be highly variable with the number of copies of the AG motif ranging from 27 to 72 and having a bimodal distribution. No statistically significant association was identified between the length of this STR and the risk of developing breast or endometrial cancer or age at diagnosis. Conclusions: The STR in the upstream regulatory region of EIG121 is highly polymorphic, but is not associated with the risk of developing breast or endometrial cancer in the cohorts analysed here. While this polymorphic STR in the regulatory region of EIG121 appears to have no impact on the risk of developing breast or endometrial cancer, its association with disease recurrence or overall survival remains to be determined.
- Subject
- EIG121; KIAA1324; short tandem repeats; STR; microsatellites; breast cancer; endometrial cancer; cancer risk
- Identifier
- http://hdl.handle.net/1959.13/1348637
- Identifier
- uon:30240
- Identifier
- ISSN:1756-0500
- Rights
- © 2016 The Author(s). This article is distributed under the terms of the Creative Commons Attribution 4.0 International Licens(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.
- Language
- eng
- Full Text
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