Göhler Stella, Da Silva Filho Miguel Inacio, Johansson Robert, Enquist-Olsson Kerstin, Henriksson Roger, Hemminki Kari, Lenner Per, Försti Asta
Department of Molecular Genetic Epidemiology, German Cancer Research Center (DKFZ), Im Neuenheimer Feld 580, 69121, Heidelberg, Germany.
Department of Radiation Science, Oncology, Umeå University, 90187, Umeå, Sweden.
J Cancer Res Clin Oncol. 2016 Jan;142(1):273-6. doi: 10.1007/s00432-015-2038-7. Epub 2015 Aug 31.
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.
由载脂蛋白B mRNA编辑酶催化多肽样蛋白（APOBEC）家族成员引起的C→T突变特征有助于乳腺癌（BC）的发生发展。此外，APOBEC3B的过表达以及APOBEC3A和APOBEC3B之间约29.5 kb的缺失多态性与BC风险增加有关。
在一项基于人群的研究中，我们纳入了782例瑞典BC患者和1559例对照，研究了APOBEC3A或APOBEC3B基因中潜在的功能性种系变异与BC风险及生存之间的关联。此外，我们鉴定了缺失多态性携带者，并探讨了其与BC的可能关联。
未观察到任何种系变异（包括缺失多态性）与BC风险或生存之间存在关联的证据。仅APOBEC3A启动子多态性rs5757402与低分期相关（比值比=0.69，95%置信区间0.50-0.96，显性模型）。
在瑞典人群中未证实缺失多态性与BC风险之间的报道关联，且任何基因分型的种系变异均未显示与BC风险或生存存在关联。
