Genotype-phenotype correlations in patients with breast cancer and BRCA1 mutations (4153delA, 185delAG, 5382insC)
https://doi.org/10.17650/1994-4098-2014-0-2-8-11
Abstract
Hereditary breast cancer (BC) associated with BRCA1 mutations is characterized by a number of features as compared to sporadic and BRCA2- associated BC. Structural and functional changes in mutant proteins in accordance with the type and locus of BRCA1 mutations determine different variants of a BC phenotype. Identification of genotype-phenotype correlations in patients with hereditary BC makes it possible to single out its basic characteristics, to personalize its diagnosis and treatment, to estimate the prognosis and risk of multiple primary tumors in accordance with BRCA1 mutations (4153delA, 185delAG, 5382insC).
About the Authors
Ye. M. Bit-Sava
Saint Petersburg State Pediatric Medical University, Ministry of Health of Russia
Acad. I.P. Pavlov First Saint Petersburg State Medical University, Ministry of Health of Russia
Russian Federation
Russian Federation
V. F. Semiglazov
N.N. Petrov Oncology Research Institute, Ministry of Health of Russia, Saint Petersburg
Russian Federation
Russian Federation
Ye. N. Imyanitov
Saint Petersburg State Pediatric Medical University, Ministry of Health of Russia
N.N. Petrov Oncology Research Institute, Ministry of Health of Russia, Saint Petersburg
Russian Federation
Russian Federation
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Review
For citations:
Bit-Sava Ye.M., Semiglazov V.F., Imyanitov Ye.N. Genotype-phenotype correlations in patients with breast cancer and BRCA1 mutations (4153delA, 185delAG, 5382insC). Tumors of female reproductive system. 2014;(2):8-11. (In Russ.) https://doi.org/10.17650/1994-4098-2014-0-2-8-11
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