Email this article Hereditary breast cancer: genetic and clinical hetergeneity, genetic testing, prophylactic surgery
- Authors: Lyubchenko L.N.1, Bateneva Y.I.1, Vorotnikov I.K.1, Portnoy S.M.1, Krokhina O.V.1, Sobolevskiy V.A.1, Zhukova L.G.1, Khaylenko V.A.1, Tyulyandin S.A.1
-
Affiliations:
- Scientific Research Institute of Clinical Oncology, N. N. Blokhin Russian Cancer Research Center, Russia, 115478, Moscow, Kashirskoye shosse, 24
- Issue: Vol 1, No 2 (2014)
- Pages: 16-25
- Section: REVIEW
- Published: 02.06.2015
- URL: https://umo.abvpress.ru/jour/article/view/20
- DOI: https://doi.org/10.17650/2313-805X.2014.1.2.16-25
- ID: 20
Cite item
Full Text
Abstract
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 %.
About the authors
L. N. Lyubchenko
Scientific Research Institute of Clinical Oncology, N. N. Blokhin Russian Cancer Research Center, Russia, 115478, Moscow, Kashirskoye shosse, 24
Author for correspondence.
Email: clingen@mail.ru
Russian Federation
Ye. I. Bateneva
Scientific Research Institute of Clinical Oncology, N. N. Blokhin Russian Cancer Research Center, Russia, 115478, Moscow, Kashirskoye shosse, 24
Email: fake@neicon.ru
Russian Federation
I. K. Vorotnikov
Scientific Research Institute of Clinical Oncology, N. N. Blokhin Russian Cancer Research Center, Russia, 115478, Moscow, Kashirskoye shosse, 24
Email: fake@neicon.ru
Russian Federation
S. M. Portnoy
Scientific Research Institute of Clinical Oncology, N. N. Blokhin Russian Cancer Research Center, Russia, 115478, Moscow, Kashirskoye shosse, 24
Email: fake@neicon.ru
Russian Federation
O. V. Krokhina
Scientific Research Institute of Clinical Oncology, N. N. Blokhin Russian Cancer Research Center, Russia, 115478, Moscow, Kashirskoye shosse, 24
Email: fake@neicon.ru
Russian Federation
V. A. Sobolevskiy
Scientific Research Institute of Clinical Oncology, N. N. Blokhin Russian Cancer Research Center, Russia, 115478, Moscow, Kashirskoye shosse, 24
Email: fake@neicon.ru
Russian Federation
L. G. Zhukova
Scientific Research Institute of Clinical Oncology, N. N. Blokhin Russian Cancer Research Center, Russia, 115478, Moscow, Kashirskoye shosse, 24
Email: fake@neicon.ru
Russian Federation
V. A. Khaylenko
Scientific Research Institute of Clinical Oncology, N. N. Blokhin Russian Cancer Research Center, Russia, 115478, Moscow, Kashirskoye shosse, 24
Email: fake@neicon.ru
Russian Federation
S. A. Tyulyandin
Scientific Research Institute of Clinical Oncology, N. N. Blokhin Russian Cancer Research Center, Russia, 115478, Moscow, Kashirskoye shosse, 24
Email: fake@neicon.ru
Russian Federation
References
Supplementary files
