Advances in Molecular OncologyAdvances in Molecular OncologyУспехи молекулярной онкологии2313-805X2413-3787Publishing House ABV Press2010.17650/2313-805X.2014.1.2.16-25REVIEWОБЗОРЫHereditary breast cancer: genetic and clinical hetergeneity, genetic testing, prophylactic surgeryНаследственный рак молочной железы: генетическая и клиническая гетерогенность, молекулярная диагностика, хирургическая профилактика в группах рискаLyubchenkoL. N.ЛюбченкоЛ. Н.
Russian Federation
clingen@mail.ruBatenevaYe. I.БатеневаЕ. И.
Russian Federation
VorotnikovI. K.ВоротниковИ. К.
Russian Federation
PortnoyS. M.ПортнойС. М.
Russian Federation
KrokhinaO. V.КрохинаО. В.
Russian Federation
SobolevskiyV. A.СоболевскийВ. А.
Russian Federation
ZhukovaL. G.ЖуковаЛ. Г.
Russian Federation
KhaylenkoV. A.ХайленкоВ. А.
Russian Federation
TyulyandinS. A.ТюляндинС. А.
Russian Federation
Scientific Research Institute of Clinical Oncology, N. N. Blokhin Russian Cancer Research Center, Russia, 115478, Moscow, Kashirskoye shosse, 24Научно-исследовательский институт клинической онкологии ФГБНУ «РОНЦ им. Н. Н. Блохина», Россия, 115478, Москва, Каширское шоссе, 24150520141216250206201502062015Copyright ©; 2014, Lyubchenko L.N., Bateneva Y.I., Vorotnikov I.K., Portnoy S.M., Krokhina O.V., Sobolevskiy V.A., Zhukova L.G., Khaylenko V.A., Tyulyandin S.A.Copyright ©; 2014, Любченко Л.Н., Батенева Е.И., Воротников И.К., Портной С.М., Крохина О.В., Соболевский В.А., Жукова Л.Г., Хайленко В.А., Тюляндин С.А.2014Lyubchenko L.N., Bateneva Y.I., Vorotnikov I.K., Portnoy S.M., Krokhina O.V., Sobolevskiy V.A., Zhukova L.G., Khaylenko V.A., Tyulyandin S.A.Любченко Л.Н., Батенева Е.И., Воротников И.К., Портной С.М., Крохина О.В., Соболевский В.А., Жукова Л.Г., Хайленко В.А., Тюляндин С.А.https://creativecommons.org/licenses/by/4.0https://umo.abvpress.ru/jour/article/view/20

5–10 % of breast cancer cases are hereditary, 30 % of them are caused by BRCA1 and BRCA2 mutations (breast / ovarian cancer syndrome). Average cumulative risks of breast and ovarian cancer in BRCA1 mutation carriers run up to 87 % and 44 %, correspondingly. The risk for contralateral breast cancer is also high: after 25 years, 62.9 % of patients with BRCA1 mutation who were younger than 40 years of age at first breast cancer develop contralateral breast cancer. The role of single nucleotide polymorphisms in BRCA1 and BRCA2 genes modifying breast and gynaecological cancer risks is actively studied. Genetic testing is performed as a part of genetic counselling. The main inclusion criteria are multiple affected family members with breast / ovarian cancer, breast cancer at young age (under 35–50 years), ovarian cancer at any age, male breast cancer, morphological features of breast cancer (triple-negative, medullar tumors), ethnicity (Jewish ancestry). High-risk individuals carrying BRCA mutations undergo specific surveillance, chemoprophylaxis and surgery protocols. Prophylactic bilateral mastectomy reduces breast cancer risk by 90–94 %.

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