New variants in the BRCA1 gene in Buryat Mongol breast cancer patients: Report from two families
| Autor: | E. N. Voropaeva, Vladimir N. Maksimov, N. Cherdyntseva, Evgeny Denisov, Elena A. Malinovskaya, Lubov Pisareva, Evgeny Cherdyntsev, Polina Gervas, Yelena Panferova, Evgeny Choynzonov, Dmitriy Perinov, Michail Voevoda |
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| Jazyk: | angličtina |
| Rok vydání: | 2017 |
| Předmět: |
0301 basic medicine
Cancer Research dbSNP Genotype Бурятия Population Single-nucleotide polymorphism Breast Neoplasms Gene mutation Biology medicine.disease_cause Polymorphism Single Nucleotide Russia 03 medical and health sciences 0302 clinical medicine Breast cancer Genetics medicine Humans education Indel рак молочной железы Alleles Sequence (medicine) education.field_of_study Mutation Geography BRCA1 Protein коренное население Genetic Variation General Medicine Sequence Analysis DNA medicine.disease мутации Pedigree BRCA1 ген 030104 developmental biology Oncology Amino Acid Substitution 030220 oncology & carcinogenesis Female |
| Zdroj: | Cancer biomarkers. 2017. Vol. 18, № 3. P. 291-296 |
| Popis: | Background The BRCA1 mutations that are endemic to the Slavic population of Russia have not been identified among indigenous peoples, including the Buryats, Tuvinians and Altaians with hereditary breast cancer. Objective This study was aimed to identify the mutations that are responsible for the occurrence of hereditary breast cancer in the indigenous population of the Republic of Buryatia. Methods Mutations in the BRCA1 gene were identified in blood samples by Sanger-based sequencing. Results We identified 11 polymorphisms (10 SNPs and 1 Indel) and 6 new unclassified sequence variants in the BRCA1 gene. In our study three new sequence variants (c.321T>A, c.366T>A, c.4357+2T>A) were found in position of previously described polymorphisms in dbSNPs: rs80357544 (c.321delT), rs190900046 (c.366T>G), and rs80358152 (c.4357+2T>C), respectively. Other three new sequence variants (c.3605A>G, c.1998A>C, and c.80+13A>C) have not been previously described in dbSNP, BIC and Human Gene Mutation Databases. Conclusions We described six new sequence variants that have never been published in the literature or databases. Further studies are required to confirm the impact of new sequence variants on the risk of breast cancer in the Buryat Mongol population. |
| Databáze: | OpenAIRE |
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