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

Autor: Gliniewicz K; International Hereditary Cancer Center, Department of Genetics and Pathology, Pomeranian Medical University in Szczecin, 71-252 Szczecin, Poland., Kluźniak W; International Hereditary Cancer Center, Department of Genetics and Pathology, Pomeranian Medical University in Szczecin, 71-252 Szczecin, Poland., Wokołorczyk D; International Hereditary Cancer Center, Department of Genetics and Pathology, Pomeranian Medical University in Szczecin, 71-252 Szczecin, Poland., Huzarski T; International Hereditary Cancer Center, Department of Genetics and Pathology, Pomeranian Medical University in Szczecin, 71-252 Szczecin, Poland.; Department of Clinical Genetics and Pathology, University of Zielona Góra, 65-046 Zielona Góra, Poland., Stempa K; International Hereditary Cancer Center, Department of Genetics and Pathology, Pomeranian Medical University in Szczecin, 71-252 Szczecin, Poland., Rudnicka H; International Hereditary Cancer Center, Department of Genetics and Pathology, Pomeranian Medical University in Szczecin, 71-252 Szczecin, Poland., Jakubowska A; International Hereditary Cancer Center, Department of Genetics and Pathology, Pomeranian Medical University in Szczecin, 71-252 Szczecin, Poland.; Independent Laboratory of Molecular Biology and Genetic Diagnostics, Pomeranian Medical University in Szczecin, 70-204 Szczecin, Poland., Szwiec M; Department of Surgery and Oncology, University of Zielona Góra, 65-046 Zielona Góra, Poland., Jarkiewicz-Tretyn J; Non-Public Health Care Centre, Cancer Genetics Laboratory, 87-100 Toruń, Poland., Naczk M; Institute of Health Sciences, Collegium Medicum, University of Zielona Góra, 65-417 Zielona Góra, Poland., Kluz T; Department of Gynecology and Obstetrics, Institute of Medical, Sciences, Medical College of Rzeszów University, 35-959 Rzeszów, Poland., Dębniak T; International Hereditary Cancer Center, Department of Genetics and Pathology, Pomeranian Medical University in Szczecin, 71-252 Szczecin, Poland., Gronwald J; International Hereditary Cancer Center, Department of Genetics and Pathology, Pomeranian Medical University in Szczecin, 71-252 Szczecin, Poland., Lubiński J; International Hereditary Cancer Center, Department of Genetics and Pathology, Pomeranian Medical University in Szczecin, 71-252 Szczecin, Poland., Narod SA; Women's College Research Institute, Women's College Hospital, Toronto, ON M5S 1B2, Canada.; Dalla Lana School of Public Health, University of Toronto, Toronto, ON M5T 3M7, Canada., Akbari MR; Women's College Research Institute, Women's College Hospital, Toronto, ON M5S 1B2, Canada.; Dalla Lana School of Public Health, University of Toronto, Toronto, ON M5T 3M7, Canada., Cybulski C; International Hereditary Cancer Center, Department of Genetics and Pathology, Pomeranian Medical University in Szczecin, 71-252 Szczecin, Poland.
Jazyk: angličtina
Zdroj: Genes [Genes (Basel)] 2023 Jun 24; Vol. 14 (7). Date of Electronic Publication: 2023 Jun 24.
DOI: 10.3390/genes14071329
Abstrakt: 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.
Databáze: MEDLINE
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