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

Author:

Gliniewicz Katarzyna1ORCID,Kluźniak Wojciech1,Wokołorczyk Dominika1,Huzarski Tomasz12,Stempa Klaudia1,Rudnicka Helena1,Jakubowska Anna13ORCID,Szwiec Marek4,Jarkiewicz-Tretyn Joanna5,Naczk Mariusz6ORCID,Kluz Tomasz7,Dębniak Tadeusz1,Gronwald Jacek1ORCID,Lubiński Jan1ORCID,Narod Steven A.89ORCID,Akbari Mohammad R.89,Cybulski Cezary1ORCID

Affiliation:

1. International Hereditary Cancer Center, Department of Genetics and Pathology, Pomeranian Medical University in Szczecin, 71-252 Szczecin, Poland

2. Department of Clinical Genetics and Pathology, University of Zielona Góra, 65-046 Zielona Góra, Poland

3. Independent Laboratory of Molecular Biology and Genetic Diagnostics, Pomeranian Medical University in Szczecin, 70-204 Szczecin, Poland

4. Department of Surgery and Oncology, University of Zielona Góra, 65-046 Zielona Góra, Poland

5. Non-Public Health Care Centre, Cancer Genetics Laboratory, 87-100 Toruń, Poland

6. Institute of Health Sciences, Collegium Medicum, University of Zielona Góra, 65-417 Zielona Góra, Poland

7. Department of Gynecology and Obstetrics, Institute of Medical, Sciences, Medical College of Rzeszów University, 35-959 Rzeszów, Poland

8. Women’s College Research Institute, Women’s College Hospital, Toronto, ON M5S 1B2, Canada

9. Dalla Lana School of Public Health, University of Toronto, Toronto, ON M5T 3M7, Canada

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.

Funder

National Science Centre, Poland

Publisher

MDPI AG

Subject

Genetics (clinical),Genetics

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