Association of CYP1A2 gene polymorphism (rs762551) with the risk of breast cancer and miscarriage of the first pregnancy

Introduction. Missed pregnancy, as a rule, is caused by a combination of several factors. Exogenous factors can have a teratogenic effect, leading to the occurrence of mutations of varying severity. In such case at the early stages of embryogenesis, serious disturbances occur, leading to a halt in the pregnancy development. The system of their biotransformation is responsible for the elimination of xenobiotics from the body, the inadequate functioning of which increases the activity of mutagenesis, which may raise the risk of breast cancer.

Materials and methods. One hundred thirty four women were examined. The first group included 63 women, 28 of them were diagnosed with fetal egg death in primigravida young women, in 35 women the first pregnancy ended with physiological childbirth. The second group included 71 woman, 33 of them were diagnosed with a malignant breast neoplasm, 38 had no suspicion of breast cancer (BC) according to the results of mammography. Polymorphisms of the CYP1A2*1F gene of the xenobiotic biotransformation system in these groups were determined by polymerase chain reaction.

Results. In the group of women with a missed first pregnancy, a statistically reliable association of a high risk of the fetal egg death with the A/A CYP1A2*1F genotype and resistance to this pathology in the case of the C/A CYP1A2*1F polymorphism was revealed. In the group of BC women, the association of a high risk of developing a malignant neoplasm with the A/A CYP1A2*1F genotype and resistance to the development of the disease in the presence of C/A CYP1A2*1F polymorphism was shown.

Limitations. The study was limited by the number of samples, there is no data on polymorphisms of the BRCA-1, BRCA-2 genes.

Conclusion. The results obtained will allow not only adjusting the tactics of pregnancy management in women with a high risk of the fetal egg death or the selection of pharmacological drugs in the treatment of BC under the conditions of serious environmental stress, but also developing preventive measures to reduce the risk of these pathologies.

Compliance with ethical standards. The examination of patients corresponded to the ethical standards of the Bioethical Committee of the Research Institute for Complex Problems of Hygiene and Occupational Diseases, elaborated in accordance with the Helsinki Declaration of the World Medical Association “Ethical Principles for Conducting Scientific Medical Research Involving Humans” as amended in 2013 and the “Rules of Clinical Practice in the Russian Federation”, approved by Order of the Ministry of Health of the Russian Federation No. 266 dated 06/19/2003. Each participant of the study gave informed voluntary written consent to participate in the study and publish personal medical information in anonymized form in the Hygiene and Sanitation, Russian journal.

Contribution:
Gulyaeva O.N. — the concept and design of the study, collection and processing of material, statistical processing, editing;
Kazitskaya A.S. — collection and processing of material;
Ulanova E.V. — collection and processing of material, editing;
Matoshin S.V. — collection and processing of material;
Chifranova M.V. — collection and processing of material;
Renge L.V. — the concept and design of the study;
Shramko S.V. — the concept and design of the study.
All authors are responsible for the integrity of all parts of the manuscript and approval of the manuscript final version.

Conflict of interest. The authors declare no conflict of interest.

Acknowledgement. The study had no sponsorship.

Received: April 24, 2023 / Accepted: June 7, 2023 / Published: October 9, 2023