ArticleCancer biomarkers : section A of Disease markers2017
New variants in the BRCA1 gene in Buryat Mongol breast cancer patients: Report from two families.
Article in Cancer biomarkers : section A of Disease markers, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 5 papers, 1 of them a synthesis that pooled it.
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Who cites it
5 citing papers in PubMed, 1 synthesis or guideline pooled it, 7 citations in OpenAlex.
- A Systematic Review of the Prevalence of Germline BRCA mutations in North Asia Breast Cancer Patients.Asian Pacific journal of cancer prevention : APJCP · 2024Pooled it
- Functional analysis of a splicing variant of the DOCK8 gene in a patient with breast cancer (Buryat ethnicity).Asian Pacific journal of cancer prevention : APJCP · 2026Article
- Pathogenicity Reclassification of Genetic Variants Related to Early-Onset Breast Cancer among Women of Mongoloid Origin.Asian Pacific journal of cancer prevention : APJCP · 2022Article
- New germline mutations in non-BRCA genes among breast cancer women of Mongoloid origin.Molecular biology reports · 2020Article
- New germline BRCA2 gene variant in the Tuvinian Mongol breast cancer patients.Molecular biology reports · 2019Article
Corrections and comments
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Authors and funding
12 authors at 3 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundThe 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.
objectiveThis 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.
methodsMutations in the BRCA1 gene were identified in blood samples by Sanger-based sequencing.
resultsWe 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.
conclusionsWe 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.
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