Some clinical morphological and molecular genetic aspects in patients with clinical signs of hereditary breast cancer
- Authors: Shatova Y.S1, Chebotareva EA1, Zlatnik EY.1, Novikova IA1, Vodolazhskiy DI1, Dzhenkova EA1
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Affiliations:
- Rostov Research Institute of Oncology
- Issue: Vol 99, No 2 (2018)
- Pages: 224-229
- Section: Theoretical and clinical medicine
- URL: https://journals.rcsi.science/kazanmedj/article/view/8410
- DOI: https://doi.org/10.17816/KMJ2018-224
- ID: 8410
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Abstract
Aim. To study the clinical morphological and molecular genetic characteristics of clinically hereditary breast cancer with and without verified mutation of BRCA1, BRCA2 compared to sporadic breast cancer.
Methods. The study included 191 female patients with verified breast cancer stage I-IIA and clinical signs of hereditary breast cancer. In order to identify mutations in genes ВRCA1/2 molecular genetic analysis of deoxyribonucleic acid from peripheral blood leukocytes was performed.
Results. The total frequency of mutations in the genes BRCA1 and ВRCA2 amounted 14.1% of the total number of examined patients. The most common mutation in clinically hereditary breast cancer among residents of the Rostov Region was 5382insC in BRCA1 gene, which corresponds to the nationwide data. Also common features of hereditary breast cancer compared to sporadic breast cancer were identified: young age at the time of disease manifestation, high prevalence of triple-negative cancer, history of infertility, increased level of p53 and androgen receptor expression, decreased level of aneuploid cell and proliferation index in the tumor.
Conclusion. In a number of clinical morphological and molecular genetic parameters, clinically hereditary breast cancer differs from sporadic breast cancer. These indicators in the future can be used as criteria for selection of patients with clinically hereditary breast cancer without confirmed BRCA1/2 mutation by standard panels for in-depth genetic testing.
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##article.viewOnOriginalSite##About the authors
Yu S Shatova
Rostov Research Institute of Oncology
Author for correspondence.
Email: doctor-ea@mail.ru
Rostov-on-Don, Russia
E A Chebotareva
Rostov Research Institute of Oncology
Email: doctor-ea@mail.ru
Rostov-on-Don, Russia
E Yu Zlatnik
Rostov Research Institute of Oncology
Email: doctor-ea@mail.ru
Rostov-on-Don, Russia
I A Novikova
Rostov Research Institute of Oncology
Email: doctor-ea@mail.ru
Rostov-on-Don, Russia
D I Vodolazhskiy
Rostov Research Institute of Oncology
Email: doctor-ea@mail.ru
Rostov-on-Don, Russia
E A Dzhenkova
Rostov Research Institute of Oncology
Email: doctor-ea@mail.ru
Rostov-on-Don, Russia
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