HEREDITARY BREAST CANCER
Abstract
Hereditary breast cancer occurs in 5–20 % of cases and it is associated with inherited mutations in particular genes, such as BRCA1 и BRCA2 in most cases. The CHEK2, PTEN, TP53, ATM, RAD51, BLM, PALB2, Nbs genes are associated with low and median risks of
developing breast cancer. Molecular genetic studies identify germinal mutations underlying hereditary breast cancer. In most cases hereditary breast cancer refers to triple-negative phenotype, which is the most aggressive type of breast cancer, that does not express the genes for estrogen receptor, progesterone receptor and human epidermal growth factor receptor 2 (HER2). The review presents the diagnostic and treatment methods of hereditary breast cancer. Clinical-morphological aspects allow the new diagnostic and treatment methods of hereditary breast cancer to be identified. Poly (ADP-ribose) polymerase (PARP) inhibitors demonstrate the potential for effective treatment of BRCA-associated breast cancer.
developing breast cancer. Molecular genetic studies identify germinal mutations underlying hereditary breast cancer. In most cases hereditary breast cancer refers to triple-negative phenotype, which is the most aggressive type of breast cancer, that does not express the genes for estrogen receptor, progesterone receptor and human epidermal growth factor receptor 2 (HER2). The review presents the diagnostic and treatment methods of hereditary breast cancer. Clinical-morphological aspects allow the new diagnostic and treatment methods of hereditary breast cancer to be identified. Poly (ADP-ribose) polymerase (PARP) inhibitors demonstrate the potential for effective treatment of BRCA-associated breast cancer.
About the Authors
E. M. Bit-Sava
St-Petersburg State Pediatric Medical Academy, St-Petersburg I.P. Pavlov State Medical University
Russian Federation
Russian Federation
N. B. Belogurova
St-Petersburg State Pediatric Medical Academy, St-Petersburg I.P. Pavlov State Medical University
Russian Federation
Russian Federation
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Review
For citations:
Bit-Sava E.M., Belogurova N.B. HEREDITARY BREAST CANCER. Siberian journal of oncology. 2013;(1):75-81. (In Russ.)
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