Impact of functional germline variants and a deletion polymorphism in APOBEC3A and APOBEC3B on breast cancer risk and survival in a Swedish study population

Journal of Cancer Research and Clinical Oncology
Stella GöhlerAsta Försti

Abstract

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. 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. 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). 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.

References

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Sep 22, 2009·European Journal of Cancer : Official Journal for European Organization for Research and Treatment of Cancer (EORTC) [and] European Association for Cancer Research (EACR)·Verena VaradiAsta Försti
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Citations

Nov 16, 2017·Carcinogenesis·Liv B GansmoStian Knappskog
Jan 30, 2019·Asia-Pacific Journal of Clinical Oncology·Mohammad HashemiMohsen Taheri
Mar 15, 2019·Journal of Molecular Endocrinology·Nicola J Smith, Timothy Robert Fenton
Jul 23, 2019·Clinical and Experimental Pharmacology & Physiology·Gaetano Leto
Apr 15, 2020·Journal of Cancer Research and Clinical Oncology·Glauco Akelinghton Freire VitielloMaria Angelica Ehara Watanabe
Dec 8, 2021·Scientific Reports·Liv B GansmoStian Knappskog

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