Ethnic Features of Genetic Susceptibility to Breast Cancer |
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| Authors: | M. A. Bermisheva N. V. Bogdanova I. R. Gilyazova G. F. Zinnatullina Z. I. Bisultanova E. K. Khusnutdinova |
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| Affiliation: | 1.Institute of Biochemistry and Genetics,Ufa Science Center, Russian Academy of Sciences,Ufa,Russia;2.Hannover Medical School,Hannover,Germany;3.Republican Clinical Oncology Center,Ufa,Russia;4.Department of Cell Biology, Morphology, and Microbiology,Chechen State University,Grozny,Russia;5.Department of Genetics and Fundamental Medicine,Bashkir State University,Ufa,Russia |
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| Abstract: | 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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