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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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.
AbstractList 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.
Author Zinnatullina, G. F.
Bogdanova, N. V.
Gilyazova, I. R.
Bisultanova, Z. I.
Khusnutdinova, E. K.
Bermisheva, M. A.
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  surname: Bermisheva
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  givenname: N. V.
  surname: Bogdanova
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  surname: Gilyazova
  fullname: Gilyazova, I. R.
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  organization: Republican Clinical Oncology Center
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  givenname: Z. I.
  surname: Bisultanova
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  givenname: E. K.
  surname: Khusnutdinova
  fullname: Khusnutdinova, E. K.
  organization: Institute of Biochemistry and Genetics, Ufa Science Center, Russian Academy of Sciences, Department of Genetics and Fundamental Medicine, Bashkir State University
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Keywords breast cancer
mutations
Republic of Bashkortostan
genetic susceptibility
genes
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Language English
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Snippet 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...
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SubjectTerms Animal Genetics and Genomics
Biomedical and Life Sciences
Biomedicine
Human Genetics
Medical Genetics
Microbial Genetics and Genomics
Title Ethnic Features of Genetic Susceptibility to Breast Cancer
URI https://link.springer.com/article/10.1134/S1022795418020047
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