Change search
ReferencesLink to record
Permanent link

Direct link
Polymorphisms in telomere-associated genes, breast cancer susceptibility and prognosis
Umeå University, Faculty of Medicine, Department of Radiation Sciences, Oncology.
Show others and affiliations
2009 (English)In: European Journal of Cancer, ISSN 0959-8049, E-ISSN 1879-0852, Vol. 45, no 17, 3008-3016 p.Article in journal (Refereed) Published
Abstract [en]

Telomeres are essential structures for maintaining chromosomal stability and their length has been reported to correlate with cancer risk and clinical outcome. Single nucleotide polymorphisms (SNPs) in genes encoding telomere-associated proteins could affect telomere length and chromosomal stability by influencing gene expression or protein configuration in the telomeres. Here, we report the results of the first association study on genetic variation in telomere-associated genes and their effect on telomere length, breast cancer (BC) susceptibility and prognosis. We genotyped 14 potentially functional and most informative SNPs in nine telomere-associated genes (TERT, TEP1, TERF1, TERF2, TERF2IP, ACD, POT1, TNKS and TNKS2) in 782 incident BC cases and 1559 matched controls. Relative telomere length (RTL) varied statistically significantly between the genotypes of the SNPs rs446977 (TEP1, p=0.04), rs938886 (TEP1, p=0.04) and rs6990097 (TNKS, p=0.04). However, none of them was associated with BC susceptibility and only rs6990097 correlated with regional lymph node metastasis (odds ratio (OR) 1.38, 95% confidence interval (CI) 1.08-1.77). The strongest association with BC susceptibility was observed for rs3785074 (TERF2, OR 0.51, 95% CI 0.31-0.83) and rs10509637 (TNKS2, OR 1.33, 95% CI 1.08-1.62). Haplotype and diplotype analysis confirmed the association of the TNKS2 gene with BC susceptibility. rs3785074 (TERF2) was additionally associated with histologic grade (OR 1.44, 95% CI 1.08-1.92) and negative oestrogen receptor status (OR 2.93, 95% CI 1.13-7.58). None of the SNPs showed a significant correlation with survival of the breast cancer patients. With these results, none of the SNPs represents any valuable prognostic marker for BC.

Place, publisher, year, edition, pages
Oxford: Pergamon , 2009. Vol. 45, no 17, 3008-3016 p.
URN: urn:nbn:se:umu:diva-30048DOI: 10.1016/j.ejca.2009.08.012PubMedID: 19766477OAI: diva2:279103
Available from: 2009-12-01 Created: 2009-12-01 Last updated: 2012-10-10Bibliographically approved

Open Access in DiVA

No full text

Other links

Publisher's full textPubMed

Search in DiVA

By author/editor
Johansson, RobertEnquist, KerstinHenriksson, RogerSvenson, UlrikaTavelin, BjörnRoos, GöranLenner, Per
By organisation
OncologyNutritional ResearchPathology
In the same journal
European Journal of Cancer

Search outside of DiVA

GoogleGoogle Scholar
The number of downloads is the sum of all downloads of full texts. It may include eg previous versions that are now no longer available

Altmetric score

Total: 43 hits
ReferencesLink to record
Permanent link

Direct link