Hereditary breast cancer: genetic and clinical hetergeneity, genetic testing, prophylactic surgery
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 i...
| Main Authors: | , , , , , , , , |
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| Format: | Article |
| Language: | Russian |
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ABV-press
2015-06-01
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| Series: | Успехи молекулярной онкологии |
| Subjects: | |
| Online Access: | https://umo.abvpress.ru/jour/article/view/20 |
| _version_ | 1797700107913658368 |
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| author | L. N. Lyubchenko Ye. I. Bateneva I. K. Vorotnikov S. M. Portnoy O. V. Krokhina V. A. Sobolevskiy L. G. Zhukova V. A. Khaylenko S. A. Tyulyandin |
| author_facet | L. N. Lyubchenko Ye. I. Bateneva I. K. Vorotnikov S. M. Portnoy O. V. Krokhina V. A. Sobolevskiy L. G. Zhukova V. A. Khaylenko S. A. Tyulyandin |
| author_sort | L. N. Lyubchenko |
| collection | DOAJ |
| description | 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 %. |
| first_indexed | 2024-03-12T04:18:14Z |
| format | Article |
| id | doaj.art-a37c7e85850748e286b34152105d1818 |
| institution | Directory Open Access Journal |
| issn | 2313-805X 2413-3787 |
| language | Russian |
| last_indexed | 2024-03-12T04:18:14Z |
| publishDate | 2015-06-01 |
| publisher | ABV-press |
| record_format | Article |
| series | Успехи молекулярной онкологии |
| spelling | doaj.art-a37c7e85850748e286b34152105d18182023-09-03T10:34:50ZrusABV-pressУспехи молекулярной онкологии2313-805X2413-37872015-06-0112162510.17650/2313-805X.2014.1.2.16-2520Hereditary breast cancer: genetic and clinical hetergeneity, genetic testing, prophylactic surgeryL. N. Lyubchenko0Ye. I. Bateneva1I. K. Vorotnikov2S. M. Portnoy3O. V. Krokhina4V. A. Sobolevskiy5L. G. Zhukova6V. A. Khaylenko7S. A. Tyulyandin8Научно-исследовательский институт клинической онкологии ФГБНУ «РОНЦ им. Н. Н. Блохина», Россия, 115478, Москва, Каширское шоссе, 24Научно-исследовательский институт клинической онкологии ФГБНУ «РОНЦ им. Н. Н. Блохина», Россия, 115478, Москва, Каширское шоссе, 24Научно-исследовательский институт клинической онкологии ФГБНУ «РОНЦ им. Н. Н. Блохина», Россия, 115478, Москва, Каширское шоссе, 24Научно-исследовательский институт клинической онкологии ФГБНУ «РОНЦ им. Н. Н. Блохина», Россия, 115478, Москва, Каширское шоссе, 24Научно-исследовательский институт клинической онкологии ФГБНУ «РОНЦ им. Н. Н. Блохина», Россия, 115478, Москва, Каширское шоссе, 24Научно-исследовательский институт клинической онкологии ФГБНУ «РОНЦ им. Н. Н. Блохина», Россия, 115478, Москва, Каширское шоссе, 24Научно-исследовательский институт клинической онкологии ФГБНУ «РОНЦ им. Н. Н. Блохина», Россия, 115478, Москва, Каширское шоссе, 24Научно-исследовательский институт клинической онкологии ФГБНУ «РОНЦ им. Н. Н. Блохина», Россия, 115478, Москва, Каширское шоссе, 24Научно-исследовательский институт клинической онкологии ФГБНУ «РОНЦ им. Н. Н. Блохина», Россия, 115478, Москва, Каширское шоссе, 245–10 % 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 %.https://umo.abvpress.ru/jour/article/view/20наследственный рак молочной железынаследственный рак яичниковbrca1brca2мутацияоднонуклеотидный полиморфизммедико-генетическое консультированиемолекулярная диагностикапрофилактическая мастэктомияпрофилактическая овариэктомия |
| spellingShingle | L. N. Lyubchenko Ye. I. Bateneva I. K. Vorotnikov S. M. Portnoy O. V. Krokhina V. A. Sobolevskiy L. G. Zhukova V. A. Khaylenko S. A. Tyulyandin Hereditary breast cancer: genetic and clinical hetergeneity, genetic testing, prophylactic surgery Успехи молекулярной онкологии наследственный рак молочной железы наследственный рак яичников brca1 brca2 мутация однонуклеотидный полиморфизм медико-генетическое консультирование молекулярная диагностика профилактическая мастэктомия профилактическая овариэктомия |
| title | Hereditary breast cancer: genetic and clinical hetergeneity, genetic testing, prophylactic surgery |
| title_full | Hereditary breast cancer: genetic and clinical hetergeneity, genetic testing, prophylactic surgery |
| title_fullStr | Hereditary breast cancer: genetic and clinical hetergeneity, genetic testing, prophylactic surgery |
| title_full_unstemmed | Hereditary breast cancer: genetic and clinical hetergeneity, genetic testing, prophylactic surgery |
| title_short | Hereditary breast cancer: genetic and clinical hetergeneity, genetic testing, prophylactic surgery |
| title_sort | hereditary breast cancer genetic and clinical hetergeneity genetic testing prophylactic surgery |
| topic | наследственный рак молочной железы наследственный рак яичников brca1 brca2 мутация однонуклеотидный полиморфизм медико-генетическое консультирование молекулярная диагностика профилактическая мастэктомия профилактическая овариэктомия |
| url | https://umo.abvpress.ru/jour/article/view/20 |
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