Enviar artigo por via de e-mail Ethnic Features of Genetic Susceptibility to Breast Cancer
- Autores: Bermisheva M.1, Bogdanova N.2, Gilyazova I.1, Zinnatullina G.3, Bisultanova Z.4, Khusnutdinova E.1,5
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Afiliações:
- Institute of Biochemistry and Genetics
- Hannover Medical School
- Republican Clinical Oncology Center
- Department of Cell Biology, Morphology, and Microbiology
- Department of Genetics and Fundamental Medicine
- Edição: Volume 54, Nº 2 (2018)
- Páginas: 226-234
- Seção: Medical Genetics
- URL: https://journals.rcsi.science/1022-7954/article/view/188826
- DOI: https://doi.org/10.1134/S1022795418020047
- ID: 188826
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Resumo
The results of screening for BRCA1, BRCA2, ATM, NBN, CHEK2, PALB2, BLM gene mutations in 1000 breast cancer (BC) patients from the Republic of Bashkortostan (RB) are presented. Germline mutations in these genes accounted for 7.5% of breast cancer patients. The wide spectrum of mutations was found in women of Slavic origin, including: c.5266dupC, c.181T>G, and c.4034delA in BRCA1; c.5932G>T in ATM; c.657_661del5 in NBN; c.444+1G>A, c.1100delC, and dele9,10(5kb) in CHEK2; c.509_510delGA and c.172_175delTTGT in PALB2; and c.1642C>T in BLM gene.
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Sobre autores
M. Bermisheva
Institute of Biochemistry and Genetics
Autor responsável pela correspondência
Email: marina_berm@mail.ru
Rússia, Ufa, 450054
N. Bogdanova
Hannover Medical School
Email: marina_berm@mail.ru
Alemanha, Hannover, D-30625
I. Gilyazova
Institute of Biochemistry and Genetics
Email: marina_berm@mail.ru
Rússia, Ufa, 450054
G. Zinnatullina
Republican Clinical Oncology Center
Email: marina_berm@mail.ru
Rússia, Ufa, 450000
Z. Bisultanova
Department of Cell Biology, Morphology, and Microbiology
Email: marina_berm@mail.ru
Rússia, Grozny, 364093
E. Khusnutdinova
Institute of Biochemistry and Genetics; Department of Genetics and Fundamental Medicine
Email: marina_berm@mail.ru
Rússia, Ufa, 450054; Ufa, 450076
