Abstract
Purpose
The C → T mutation signature caused by APOBEC family members contributes to the development of breast cancer (BC). Also overexpression of APOBEC3B and a ~29.5-kb deletion polymorphism between APOBEC3A and APOBEC3B have been associated with increased BC risk.
Methods
We investigated in a population-based study, with 782 Swedish BC cases and 1559 controls, associations between potentially functional germline variants in APOBEC3A or APOBEC3B gene and BC risk and survival. Additionally, we identified deletion polymorphism carriers and explored possible associations with BC.
Results
No evidence of association between any germline variant, including the deletion polymorphism, and BC risk or survival was observed. Only APOBEC3A promoter polymorphism rs5757402 was associated with low stage (OR = 0.69, 95 % CI 0.50–0.96, dominant model).
Conclusion
The reported association between the deletion polymorphism and BC risk was not confirmed in the Swedish population, nor did any genotyped germline variant show any association with BC risk or survival.
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All participants have given informed consent to the use of their samples for research purpose. The study was approved by the Ethical Committee of Karolinska Institute Syd and Umeå University.
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The authors declare that they have no conflict of interest.
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Göhler, S., Da Silva Filho, M.I., Johansson, R. et al. Impact of functional germline variants and a deletion polymorphism in APOBEC3A and APOBEC3B on breast cancer risk and survival in a Swedish study population. J Cancer Res Clin Oncol 142, 273–276 (2016). https://doi.org/10.1007/s00432-015-2038-7
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DOI: https://doi.org/10.1007/s00432-015-2038-7