Ethnic Features of Genetic Susceptibility to Breast Cancer

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...

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Published inRussian journal of genetics Vol. 54; no. 2; pp. 226 - 234
Main Authors Bermisheva, M. A., Bogdanova, N. V., Gilyazova, I. R., Zinnatullina, G. F., Bisultanova, Z. I., Khusnutdinova, E. K.
Format Journal Article
LanguageEnglish
Published Moscow Pleiades Publishing 01.02.2018
Subjects
Animal Genetics and Genomics
Biomedical and Life Sciences
Biomedicine
Human Genetics
Medical Genetics
Microbial Genetics and Genomics
breast cancer
mutations
Republic of Bashkortostan
genetic susceptibility
genes
populations
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Summary: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.
ISSN:1022-7954
1608-3369
DOI:10.1134/S1022795418020047