Stella Göhler1, Miguel Inacio Da Silva Filho2, Robert Johansson3, Kerstin Enquist-Olsson4, Roger Henriksson3,5, Kari Hemminki2,6, Per Lenner3, Asta Försti2,6. 1. Department of Molecular Genetic Epidemiology, German Cancer Research Center (DKFZ), Im Neuenheimer Feld 580, 69121, Heidelberg, Germany. stella-goehler@gmx.de. 2. Department of Molecular Genetic Epidemiology, German Cancer Research Center (DKFZ), Im Neuenheimer Feld 580, 69121, Heidelberg, Germany. 3. Department of Radiation Science, Oncology, Umeå University, 90187, Umeå, Sweden. 4. Department of Public Health and Clinical Medicine/Nutritional Research, Umeå University, 90187, Umeå, Sweden. 5. Cancer Center Stockholm Gotland, 10239, Stockholm, Sweden. 6. Center for Primary Health Care Research, Clinical Research Center, Lund University, 20502, Malmö, Sweden.
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.
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.
Entities:
Keywords:
APOBEC3; Breast cancer; Deletion polymorphism; Germline variants; Single-nucleotide polymorphism
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