Affiliation:
1. N.N. Blokhin National Medical Research Center of Oncology
2. A.I. Yevdokimov Moscow State University of Medicine and Dentistry
Abstract
Introduction. The study of mutation in BRCA1/2 genes was first initiated in the USA and Europe, and later in Russia. Statistics indicate that women with the BRCA1/BRCA2 mutation have a higher risk of breast and/or ovarian cancer than the general population. According to different authors, the average cumulative risk among BRCA1 carriers is 65% (range 44–78%) for breast cancer and 39% (range 18–54%) for ovarian cancer. For mutation carriers in the BRCA2 gene, the risk for breast cancer is 45–49%, while the risk for RNA is 11–18%. However, in patients already diagnosed with breast cancer or ovarian cancer, the risk of a second tumor persists throughout life and may remain high even in old age. Treatment of BRCA-associated breast cancer and/or ovarian cancer is almost the same as treatment for sporadic cancer, and includes surgical, radiation, and drug anticancer therapy. However, there are some features that need to be considered in clinical practice. Clinical case. In this article we present the clinical experience of the treatment of a 32-year-old patient with BRCA1-associated primary multiple synchronous breast cancer and metachronous uterine tube cancer. In July 2015, the patient was diagnosed with synchronous cancer of both breast (Luminal A right breast cancer and Luminal B left breast cancer). As part of a treatment and with the patient’s consent, a bilateral adnexectomy was performed. In the histological examination of the operating material, the uterine tube cancer was diagnosed in situ. From 16.03.2016 to the present time the patient receives adjuvant endocrinotherapy without signs of disease progression. Conclusion. This clinical case study presents the importance of a combined approach to the treatment and prevention of BRCAassociated cancer.
Reference45 articles.
1. Imyanitov Е.N., Kalinovskyi V.P., Knyazev P.G., Lyshchev A.A., Novikov L.B. Molecular genetics of human tumors. Voprosi oncologii = Problems in oncology. 1997;43(1):95–101. (In Russ.) Available at: https://elibrary.ru/item.asp?id=26105529.
2. Groep P., Wall E., Diest P. Pathology of hereditary breast cancer. Cell Oncol (Dordr). 2011;34(2):71–88. doi: 10.1007/s13402-011-0010-3.
3. Wooster R., Bignell G., Lancaster J., Swift S., Seal S., Mangion J. et al. Identification of the breast cancer susceptibility gene BRCA2. Nature. 1995;378(6559):789–792. doi: 10.1038/378789a0.
4. Tavtigian S.V., Simard J., Rommens J., Couch F., Shattuck-Eidens D., Neuhausen S. et al. The Complete BRCA2 Gene and Mutations in Chromosome 13q-linked Kindreds. Nat Genet. 1996;12(3):333–337. doi: 10.1038/ng0396-333.
5. Bae I., Fan S., Meng Q., Rih J.K., Kim H.J., Kang H.J. et al. BRCA1 induces antioxidant gene expression and resistance to oxidative stress. Cancer Res. 2004;64(21):7893–7909. doi: 10.1158/0008-5472.CAN-04-1119.