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. 2023 Jun 24;14(7):1329.
doi: 10.3390/genes14071329.

The APOBEC3B c.783delG Truncating Mutation Is Not Associated with an Increased Risk of Breast Cancer in the Polish Population

Katarzyna Gliniewicz  1 , Wojciech Kluźniak  1 , Dominika Wokołorczyk  1 , Tomasz Huzarski  1   2 , Klaudia Stempa  1 , Helena Rudnicka  1 , Anna Jakubowska  1   3 , Marek Szwiec  4 , Joanna Jarkiewicz-Tretyn  5 , Mariusz Naczk  6 , Tomasz Kluz  7 , Tadeusz Dębniak  1 , Jacek Gronwald  1 , Jan Lubiński  1 , Steven A Narod  8   9 , Mohammad R Akbari  8   9 , Cezary Cybulski  1
Affiliations

The APOBEC3B c.783delG Truncating Mutation Is Not Associated with an Increased Risk of Breast Cancer in the Polish Population

Katarzyna Gliniewicz et al. Genes (Basel). .

Abstract

The APOBEC3B gene belongs to a cluster of DNA-editing enzymes on chromosome 22 and encodes an activation-induced cytidine deaminase. A large deletion of APOBEC3B was associated with increased breast cancer risk, but the evidence is inconclusive. To investigate whether or not APOBEC3B is a breast cancer susceptibility gene, we sequenced this gene in 617 Polish patients with hereditary breast cancer. We detected a single recurrent truncating mutation (c.783delG, p.Val262Phefs) in four of the 617 (0.65%) hereditary cases by sequencing. We then genotyped an additional 12,484 women with unselected breast cancer and 3740 cancer-free women for the c.783delG mutation. The APOBEC3B c.783delG allele was detected in 60 (0.48%) unselected cases and 19 (0.51%) controls (OR = 0.95, 95% CI 0.56-1.59, p = 0.94). The allele was present in 8 of 1968 (0.41%) familial breast cancer patients from unselected cases (OR = 0.80, 95% CI 0.35-1.83, p = 0.74). Clinical characteristics of breast tumors in carriers of the APOBEC3B mutation and non-carriers were similar. No cancer type was more frequent in the relatives of mutation carriers than in those of non-carriers. We conclude the APOBEC3B deleterious mutation p.Val262Phefs does not confer breast cancer risk. These data do not support the hypothesis that APOBEC3B is a breast cancer susceptibility gene.

Keywords: APOBEC3B gene; Polish population; breast cancer risk; mutation.

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Conflict of interest statement

The authors declare no conflict of interest.

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