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Интеллектуальная Система Тематического Исследования НАукометрических данных |
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BRCA-ASSOCIATED ANGIOSARCOMAE OF THE BREAST IN MONOZYGOTIC TWINSстатья
Статья опубликована в журнале из списка RSCI Web of Science
Статья опубликована в журнале из перечня ВАК- Авторы: BUDIK Y.A., SEMYANIKHINA A.V., POSPEKHOVA N.I., ANUROVA O.A., FEDENKO A.A., SOBOLEVSKY V.A., LYUBCHENKO L.N.
- Журнал: Медицинская генетика
- Том: 10
- Номер: 112
- Год издания: 2011
- Издательство: Гениус Медиа
- Местоположение издательства: М.
- Первая страница: 44
- Последняя страница: 49
- Аннотация: Soft tissue sarcomas are rare malignant tumors. Primary angiosarcomas of the breast account for about 0,04% of all malignant breast tumors cases. We present the case report of simultaneous development of primary angiosarcoma of the breast in the in 22-year-old twins. The histological examination of the core-biopsy specimen revealed the evidence of angiosarcoma. Each of the patients was treated with combined therapy. In one of the sisters, the tumor mass occupied almost the entire breast, wherefore the first phase Chemotherapy (CT) was administered with 5 cycles of gemcitabine and docetaxel. Subsequently the mastectomy with simultaneous breast reconstruction was performed on the right side. Postoperatively another 3 cycles of CT were carried out according to the above described scheme. In the second patient, due to the small tumor size (less than 5cm), the skin-repairing mastectomy with simultaneous breast reconstruction was performed. 6 courses of adjuvant CT was carried out according to the specified scheme. The genomic analysis of both patients, revealed the germline mutation А518А (c.1782A/T) in the exone-10 and the polymorphism V269V (с.4035T/C) in the exone-11 of the BRCA2 -genes. In addition, the polymorphism Int3dup16 was found in the third introne of the TP53 -gene. The same mutation (А518А (c.1782A/T) was also detected in the twin’s father. There was no progress in the disease after the 12 months follow-up.
- Добавил в систему: Семьянихина Александра Владимировна