title: Impact of functional germline variants and a deletion polymorphism in APOBEC3A and APOBEC3B on breast cancer risk and survival in a Swedish study population.
abstract: OBJECTIVE
  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).
  
  
  CONCLUSIONS
  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.
authors: Department of Molecular Genetic Epidemiology, German Cancer Research Center (DKFZ), Im Neuenheimer Feld 580, 69121, Heidelberg, Germany. stella-goehler@gmx.de.
authors: Stella
authors: S
authors: Göhler
authors: Department of Molecular Genetic Epidemiology, German Cancer Research Center (DKFZ), Im Neuenheimer Feld 580, 69121, Heidelberg, Germany.
authors: Miguel Inacio
authors: MI
authors: Da Silva Filho
authors: Department of Radiation Science, Oncology, Umeå University, 90187, Umeå, Sweden.
authors: Robert
authors: R
authors: Johansson
authors: Department of Public Health and Clinical Medicine/Nutritional Research, Umeå University, 90187, Umeå, Sweden.
authors: Kerstin
authors: K
authors: Enquist-Olsson
authors: Department of Radiation Science, Oncology, Umeå University, 90187, Umeå, Sweden.|Cancer Center Stockholm Gotland, 10239, Stockholm, Sweden.
authors: Roger
authors: R
authors: Henriksson
authors: Department of Molecular Genetic Epidemiology, German Cancer Research Center (DKFZ), Im Neuenheimer Feld 580, 69121, Heidelberg, Germany.|Center for Primary Health Care Research, Clinical Research Center, Lund University, 20502, Malmö, Sweden.
authors: Kari
authors: K
authors: Hemminki
authors: Department of Radiation Science, Oncology, Umeå University, 90187, Umeå, Sweden.
authors: Per
authors: P
authors: Lenner
authors: Department of Molecular Genetic Epidemiology, German Cancer Research Center (DKFZ), Im Neuenheimer Feld 580, 69121, Heidelberg, Germany.|Center for Primary Health Care Research, Clinical Research Center, Lund University, 20502, Malmö, Sweden.
authors: Asta
authors: A
authors: Försti
mesh_terms: D001943:Breast Neoplasms / Q000453:epidemiology / Q000235:genetics* / Q000401:mortality* / Q000473:pathology; D016022:Case-Control Studies; D003564:Cytidine Deaminase / Q000235:genetics*; D005260:Female; D005500:Follow-Up Studies; D018095:Germ-Line Mutation / Q000235:genetics*; D006801:Humans; D015778:Minor Histocompatibility Antigens; D009367:Neoplasm Staging; D020641:Polymorphism, Single Nucleotide / Q000235:genetics*; D011379:Prognosis; D011506:Proteins / Q000235:genetics*; D017384:Sequence Deletion / Q000235:genetics*; D015996:Survival Rate; D013548:Sweden / Q000453:epidemiology
chemical_list: D015778:Minor Histocompatibility Antigens; D011506:Proteins; C121399:APOBEC3A protein, human; C495794:APOBEC3B protein, human; D003564:Cytidine Deaminase
keywords: APOBEC3; Breast cancer; Deletion polymorphism; Germline variants; Single-nucleotide polymorphism