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- Title
Ethnic Features of Genetic Susceptibility to Breast Cancer.
- Authors
Bermisheva, M. A.; Bogdanova, N. V.; Gilyazova, I. R.; Zinnatullina, G. F.; Bisultanova, Z. I.; Khusnutdinova, E. K.
- 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.
- Subjects
BASHKORTOSTAN (Russia); BREAST cancer patients; GENETIC mutation; MOLECULAR genetics; NUCLEOTIDE sequencing
- Publication
Russian Journal of Genetics, 2018, Vol 54, Issue 2, p226
- ISSN
1022-7954
- Publication type
Article
- DOI
10.1134/S1022795418020047