title: New variants in the BRCA1 gene in Buryat Mongol breast cancer patients: Report from two families.
abstract: 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.
authors.affiliation: Cancer Research Institute, Tomsk National Research Medical Centre, Russian Academy of Science, Tomsk, Russia.|Tomsk State University, Tomsk, Russia.|Cancer Research Institute, Tomsk National Research Medical Centre, Russian Academy of Science, Tomsk, Russia.
authors.forename: Nadezda
authors.initials: N
authors.lastname: Cherdyntseva
authors.affiliation: Cancer Research Institute, Tomsk National Research Medical Centre, Russian Academy of Science, Tomsk, Russia.|Cancer Research Institute, Tomsk National Research Medical Centre, Russian Academy of Science, Tomsk, Russia.
authors.forename: Polina
authors.initials: P
authors.lastname: Gervas
authors.affiliation: Therapy Research Institute of Siberian Branch of the Russian Academy of Medical Sciences, Novosibirsk, Russia.
authors.forename: Elena
authors.initials: E
authors.lastname: Voropaeva
authors.affiliation: Cancer Research Institute, Tomsk National Research Medical Centre, Russian Academy of Science, Tomsk, Russia.|Tomsk State University, Tomsk, Russia.
authors.forename: Evgeny
authors.initials: E
authors.lastname: Denisov
authors.affiliation: Cancer Research Institute, Tomsk National Research Medical Centre, Russian Academy of Science, Tomsk, Russia.
authors.forename: Lubov
authors.initials: L
authors.lastname: Pisareva
authors.affiliation: Cancer Research Institute, Tomsk National Research Medical Centre, Russian Academy of Science, Tomsk, Russia.
authors.forename: Elena
authors.initials: E
authors.lastname: Malinovskaya
authors.affiliation: Therapy Research Institute of Siberian Branch of the Russian Academy of Medical Sciences, Novosibirsk, Russia.
authors.forename: Vladimir
authors.initials: V
authors.lastname: Maksimov
authors.affiliation: Therapy Research Institute of Siberian Branch of the Russian Academy of Medical Sciences, Novosibirsk, Russia.
authors.forename: Michail
authors.initials: M
authors.lastname: Voevoda
authors.affiliation: Byratya Republic Cancer Center, Ulan Ude, Russia.
authors.forename: Dmitriy
authors.initials: D
authors.lastname: Perinov
authors.affiliation: Irkutsk Regional Oncological Dispensary, Irkutsk, Russia.
authors.forename: Yelena
authors.initials: Y
authors.lastname: Panferova
authors.affiliation: National Research Tomsk Polytechnic University, Tomsk, Russia.
authors.forename: Evgeny
authors.initials: E
authors.lastname: Cherdyntsev
authors.affiliation: Cancer Research Institute, Tomsk National Research Medical Centre, Russian Academy of Science, Tomsk, Russia.
authors.forename: Evgeny
authors.initials: E
authors.lastname: Choynzonov
mesh_terms: D000483:Alleles; D019943:Amino Acid Substitution; D019313:BRCA1 Protein / Q000235:genetics*; D001943:Breast Neoplasms / Q000235:genetics*; D005260:Female; D014644:Genetic Variation; D005838:Genotype; D005843:Geography; D006801:Humans; D009154:Mutation; D010375:Pedigree; D020641:Polymorphism, Single Nucleotide; D012426:Russia; D017422:Sequence Analysis, DNA
chemical_list: D019313:BRCA1 Protein
keywords: BRCA1; Buryat; Mongoloid race; breast cancer; mutation