Наследственный рак молочной железы: генетическая и клиническая гетерогенность, молекулярная диагностика, хирургическая профилактика в группах риска

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 %.На долю наследственных форм приходится 5–10 % случаев рака молочной железы, 30 % из них обусловлены мутациями в генах BRCA1 / 2 (синдром наследственного рака молочной железы / рака яичников). Средние кумулятивные риски для носителей мутаций в гене BRCA1 достигают 87 % в отношении развития рака молочной железы и 44 % в отношении развития рака яичников. Высок риск контралатерального рака молочной железы: при манифестации первичной опухоли у носителей мутаций в гене BRCA1 в возрасте до 40 лет он составляет 62,9 %. Активно изучается роль однонуклеотидных полиморфизмов, модифицирующих риск развития рака молочной железы и других опухолей женской репродуктивной системы у носителей мутаций в генах BRCA1 / 2. Молекулярная диагностика проводится в рамках медико-генетического консультирования. Основными показаниями для генетического тестирования являются онкологически отягощенный семейный анамнез, рак молочной железы у женщин в молодом возрасте (до 35–50 лет), рак яичников, рак молочной железы у мужчин, морфологические особенности рака молочной железы (трижды негативные, медуллярные опухоли), этническая принадлежность (ашкеназские евреи). В группах высокого генетического риска проводятся профилактические химиотерапевтические и хирургические мероприятия. Показана высокая эффективность профилактических операций в отношении развития рака молочной железы и рака яичников. Двусторонняя профилактическая мастэктомия снижает риск развития рака молочной железы на 90–94 %

Breast magnetic resonance imaging significance for breast cancer diagnostic in women with genetic predisposition and a strong family history

Screening of breast cancer with mammography recommended to women over 40 has been shown to decrease breast cancer mortality. But mam- mography has much lower accuracy in young women with BRCA1/2 mutations and women with a strong family history. Therefore new screening methods in young high-risk women are necessary to detect early-stage cancer

Analysis of Metrological Provision Problems of a Test Stand for Testing Radio-Electronic Products for Resistance to Irradiation with High-Energy Heavy Ions

Abstract: The problems of the metrological certification of beams of high-energy heavy charged particles (HCPs) and protons that will be used in the study—as well as testing for radiation resistance—of promising products of semiconductor micro- and nanoelectronics, solid-state microwave electronics, and micromechanical systems are considered. One of the main requirements for such beams is ensuring the desired range of linear energy transfer (LET). Two methods for changing the LET are considered, one of which is based on using the ions of various types (16O, 22Ne, 40Ar, 56Fe, 84Kr, 136Xe, 209Bi), and the other is based on using ion of the same type (197Au), but with different energies. The advantages of using both methods are considered and the problems arising when using the second method are analyzed. © 2019, Pleiades Publishing, Ltd

Superconductivity at 253 K in lanthanum–yttrium ternary hydrides

Here we report the high-pressure synthesis of a series of lanthanum–yttrium ternary hydrides obtained at pressures of 170–196 GPa via the laser heating of P6 3/mmc La–Y alloys with ammonia borane. As a result, we discovered several novel compounds: cubic hexahydride (La,Y)H$_6$ and decahydrides (La,Y) H$_{10}$ with a maximum critical temperature T$_C$ ~ 253 K and an extrapolated upper critical magnetic field B$_{C2}$ (0) of up to 135 T at 183 GPa. The current–voltage measurements show that the critical current density J$_C$ in (La,Y)H10 is 12–27.7 kA/mm$^2$ at 4.2 K, which is comparable with that of commercial superconducting wires such as NbTi and Nb$_3$ Sn. (La,Y)H$_6$ and (La,Y)H$_{10}$ are among the first examples of ternary high-T$_C$ superconducting hydrides. Our experiments show that part of metal atoms in the structures of recently discovered Im$\bar{3}$m-YH$_6$ and Fm$\bar{3}$m-LaH$_{10}$ can be replaced with lanthanum (~ 70%) and yttrium (~ 25%), respectively, with the formation of unique ternary superhydrides containing metal encapsulated cages La@H$_{24}$ and Y@H$_{32}$, which are specific for Im$\bar{3}$m-LaH$_6$ and Fm$\bar{3}$m-YH$_{10}$. This work demonstrates that hydrides, unstable in pure form such as LaH$_6$ and YH$_{10}$ , may nevertheless be stabilized at relatively low pressures in solid solutions with superhydrides having the desired structure