Genotype-phenotype correlations in patients with breast cancer and BRCA1 mutations (4153delA, 185delAG, 5382insC)
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...
Saved in:
| Main Authors: | , , |
|---|---|
| Format: | Article |
| Language: | Russian |
| Published: |
ABV-press
2014-07-01
|
| Series: | Опухоли женской репродуктивной системы |
| Subjects: | |
| Online Access: | https://ojrs.abvpress.ru/ojrs/article/view/19 |
| Tags: |
Add Tag
No Tags, Be the first to tag this record!
|
| _version_ | 1849399025511432192 |
|---|---|
| author | Ye. M. Bit-Sava V. F. Semiglazov Ye. N. Imyanitov |
| author_facet | Ye. M. Bit-Sava V. F. Semiglazov Ye. N. Imyanitov |
| author_sort | Ye. M. Bit-Sava |
| collection | DOAJ |
| description | 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). |
| format | Article |
| id | doaj-art-968a0053b4d64b53a2c577cb67cf423e |
| institution | Kabale University |
| issn | 1994-4098 1999-8627 |
| language | Russian |
| publishDate | 2014-07-01 |
| publisher | ABV-press |
| record_format | Article |
| series | Опухоли женской репродуктивной системы |
| spelling | doaj-art-968a0053b4d64b53a2c577cb67cf423e2025-08-20T03:38:26ZrusABV-pressОпухоли женской репродуктивной системы1994-40981999-86272014-07-010281110.17650/1994-4098-2014-0-2-8-1134Genotype-phenotype correlations in patients with breast cancer and BRCA1 mutations (4153delA, 185delAG, 5382insC)Ye. M. Bit-Sava0V. F. Semiglazov1Ye. N. Imyanitov2Saint Petersburg State Pediatric Medical University, Ministry of Health of Russia Acad. I.P. Pavlov First Saint Petersburg State Medical University, Ministry of Health of RussiaN.N. Petrov Oncology Research Institute, Ministry of Health of Russia, Saint PetersburgSaint Petersburg State Pediatric Medical University, Ministry of Health of Russia N.N. Petrov Oncology Research Institute, Ministry of Health of Russia, Saint PetersburgHereditary 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).https://ojrs.abvpress.ru/ojrs/article/view/19hereditary breast cancer, brca1-associated cancer, brca1 mutations (4153dela, 185delag, 5382insc) |
| spellingShingle | Ye. M. Bit-Sava V. F. Semiglazov Ye. N. Imyanitov Genotype-phenotype correlations in patients with breast cancer and BRCA1 mutations (4153delA, 185delAG, 5382insC) Опухоли женской репродуктивной системы hereditary breast cancer, brca1-associated cancer, brca1 mutations (4153dela, 185delag, 5382insc) |
| title | Genotype-phenotype correlations in patients with breast cancer and BRCA1 mutations (4153delA, 185delAG, 5382insC) |
| title_full | Genotype-phenotype correlations in patients with breast cancer and BRCA1 mutations (4153delA, 185delAG, 5382insC) |
| title_fullStr | Genotype-phenotype correlations in patients with breast cancer and BRCA1 mutations (4153delA, 185delAG, 5382insC) |
| title_full_unstemmed | Genotype-phenotype correlations in patients with breast cancer and BRCA1 mutations (4153delA, 185delAG, 5382insC) |
| title_short | Genotype-phenotype correlations in patients with breast cancer and BRCA1 mutations (4153delA, 185delAG, 5382insC) |
| title_sort | genotype phenotype correlations in patients with breast cancer and brca1 mutations 4153dela 185delag 5382insc |
| topic | hereditary breast cancer, brca1-associated cancer, brca1 mutations (4153dela, 185delag, 5382insc) |
| url | https://ojrs.abvpress.ru/ojrs/article/view/19 |
| work_keys_str_mv | AT yembitsava genotypephenotypecorrelationsinpatientswithbreastcancerandbrca1mutations4153dela185delag5382insc AT vfsemiglazov genotypephenotypecorrelationsinpatientswithbreastcancerandbrca1mutations4153dela185delag5382insc AT yenimyanitov genotypephenotypecorrelationsinpatientswithbreastcancerandbrca1mutations4153dela185delag5382insc |