Отправить статью по E-mail Ethnic Features of Genetic Susceptibility to Breast Cancer
- Авторы: Bermisheva M.A.1, Bogdanova N.V.2, Gilyazova I.R.1, Zinnatullina G.F.3, Bisultanova Z.I.4, Khusnutdinova E.K.1,5
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Учреждения:
- 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
- Выпуск: Том 54, № 2 (2018)
- Страницы: 226-234
- Раздел: 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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Аннотация
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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M. Bermisheva
Institute of Biochemistry and Genetics
Автор, ответственный за переписку.
Email: marina_berm@mail.ru
Россия, Ufa, 450054
N. Bogdanova
Hannover Medical School
Email: marina_berm@mail.ru
Германия, Hannover, D-30625
I. Gilyazova
Institute of Biochemistry and Genetics
Email: marina_berm@mail.ru
Россия, Ufa, 450054
G. Zinnatullina
Republican Clinical Oncology Center
Email: marina_berm@mail.ru
Россия, Ufa, 450000
Z. Bisultanova
Department of Cell Biology, Morphology, and Microbiology
Email: marina_berm@mail.ru
Россия, Grozny, 364093
E. Khusnutdinova
Institute of Biochemistry and Genetics; Department of Genetics and Fundamental Medicine
Email: marina_berm@mail.ru
Россия, Ufa, 450054; Ufa, 450076
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