Tumors of female reproductive systemTumors of female reproductive systemОпухоли женской репродуктивной системы1994-40981999-8627Publishing House ABV Press109810.17650/1994-4098-2023-19-2-16-24MAMMOLOGY. REVIEWSМАММОЛОГИЯ. ОБЗОРНЫЕ СТАТЬИBreast cancer screening in germline mutation carriers. A literature reviewСкрининг рака молочной железы у носителей герминальных мутаций. Обзор литературыhttps://orcid.org/0000-0003-0996-5995SultanbaevA. V.СултанбаевА. В.
Russian Federation

Aleksandr V. Sultanbaev.

73/1 Prospekt Oktyabrya, Ufa 450054; 74 Gafuri St., Ufa 450076, Republic of Bashkortostan

Султанбаев Александр Валерьевич.

Республика Башкортостан, 450054 Уфа, проспект Октября, 73/1; Республика Башкортостан, 450076 Уфа, ул. Гафури, 74

rkodrb@yandex.ruhttps://orcid.org/0000-0001-8340-7962NasretdinovA. F.НасретдиновА. Ф.
Russian Federation

73/1 Prospekt Oktyabrya, Ufa 450054

Республика Башкортостан, 450054 Уфа, проспект Октября, 73/1

https://orcid.org/0000-0001-7277-4644GaleevM. G.ГалеевМ. Г.
Russian Federation

73/1 Prospekt Oktyabrya, Ufa 450054

Республика Башкортостан, 450054 Уфа, проспект Октября, 73/1

https://orcid.org/0000-0003-3734-2779MenshikovK. V.МеньшиковК. В.
Russian Federation

73/1 Prospekt Oktyabrya, Ufa 450054; 74 Gafuri St., Ufa 450076, Republic of Bashkortostan

Республика Башкортостан, 450054 Уфа, проспект Октября, 73/1; Республика Башкортостан, 450076 Уфа, ул. Гафури, 74

https://orcid.org/0000-0003-1185-977XMusinSh. I.МусинШ. И.
Russian Federation

73/1 Prospekt Oktyabrya, Ufa 450054

Республика Башкортостан, 450054 Уфа, проспект Октября, 73/1

https://orcid.org/0000-0001-5926-0446SultanbaevaN. I.СултанбаеваН. И.
Russian Federation

73/1 Prospekt Oktyabrya, Ufa 450054

Республика Башкортостан, 450054 Уфа, проспект Октября, 73/1

https://orcid.org/0000-0002-6769-7194AyupovR. T.АюповР. Т.
Russian Federation

73/1 Prospekt Oktyabrya, Ufa 450054

Республика Башкортостан, 450054 Уфа, проспект Октября, 73/1

https://orcid.org/0000-0002-2488-597XRakhimovR. R.РахимовР. Р.
Russian Federation

73/1 Prospekt Oktyabrya, Ufa 450054

Республика Башкортостан, 450054 Уфа, проспект Октября, 73/1

https://orcid.org/0000-0002-8867-504XLipatovO. N.ЛипатовО. Н.
Russian Federation

73/1 Prospekt Oktyabrya, Ufa 450054; 3 Lenina St., Ufa 450008, Republic of Bashkortostan

Республика Башкортостан, 450054 Уфа, проспект Октября, 73/1; Республика Башкортостан, 450008 Уфа, ул. Ленина, 3

https://orcid.org/0000-0002-8461-9243IzmaylovA. A.ИзмайловА. А.
Russian Federation

73/1 Prospekt Oktyabrya, Ufa 450054; 3 Lenina St., Ufa 450008, Republic of Bashkortostan

Республика Башкортостан, 450054 Уфа, проспект Октября, 73/1; Республика Башкортостан, 450008 Уфа, ул. Ленина, 3

https://orcid.org/0000-0002-8665-8895MenshikovaI. A.МеньшиковаИ. А.
Russian Federation

3 Lenina St., Ufa 450008, Republic of Bashkortostan

Республика Башкортостан, 450008 Уфа, ул. Ленина, 3

https://orcid.org/0000-0002-7082-0085SerebrennikovG. A.СеребренниковГ. А.
Russian Federation

73/1 Prospekt Oktyabrya, Ufa 450054

Республика Башкортостан, 450054 Уфа, проспект Октября, 73/1

https://orcid.org/0000-0002-3193-9008LipatovD. O.ЛипатовД. О.
Russian Federation

3 Lenina St., Ufa 450008, Republic of Bashkortostan

Республика Башкортостан, 450008 Уфа, ул. Ленина, 3

Republican Clinical Oncology Dispensary, Ministry of Health of the Republic of BashkortostanГАУЗ «Республиканский клинический онкологический диспансер» Министерства здравоохранения Республики БашкортостанRepublican Center for Medical Genetics, Ministry of Health of the Republic of BashkortostanГБУЗ «Республиканский медико-генетический центр» Министерства здравоохранения Республики БашкортостанBashkir State Medical University, Ministry of Health of the Republic of BashkortostanФГБОУ ВО «Башкирский государственный медицинский университет» Министерства здравоохранения Республики Башкортостан0508202319216242603202305082023https://ojrs.abvpress.ru/ojrs/article/view/1098

Carriers of germline mutations have an increased risk of developing malignant neoplasms. Mutations in the BRCA1/2 gene are the most studied, leading to an increased risk of breast cancer, characterized by early manifestation and aggressive course. The development of screening measures aimed at identifying tumors characteristic of certain mutations will increase the patient’s chances for radical treatment, and therefore lower costs for the treatment of advanced forms of malignant neoplasms. It is important to know the correlation of mutations with the characteristics of their clinical manifestation, the study of this issue will lead to the formation of a medical and economic justification for additional diagnostic procedures.

Носители герминальных мутаций имеют повышенный риск развития злокачественных новообразований. Наиболее изучены мутации в гене BRCA1/2, приводящие к повышенному риску возникновения рака молочной железы, характеризующегося ранней манифестацией и агрессивным течением. Разработка мер скрининга, направленного на выявление характерных для определенных мутаций опухолей, позволит увеличить шансы пациентов на радикальное лечение, а значит, и уменьшить затраты на лечение запущенных форм злокачественных новообразований. Важно знание корреляции мутаций с особенностями их клинической манифестации, изучение данного вопроса приведет к формированию медико-экономического обоснования дополнительных диагностических процедур.

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