ArticleBalkan journal of medical genetics : BJMG2012
Genetic variation of the brca1 and brca2 genes in macedonian patients.
Article in Balkan journal of medical genetics : BJMG, 2012. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 4 papers.
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
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Who cites it
4 citing papers in PubMed, 8 citations in OpenAlex.
- The highest frequency ofReports of practical oncology and radiotherapy : journal of Greatpoland Cancer Center in Poznan and Polish Society of Radiation Oncology · 2022Article
- New variants in the BRCA1 gene in Buryat Mongol breast cancer patients: Report from two families.Cancer biomarkers : section A of Disease markers · 2017Article
- Spectrum and frequencies of BRCA1/2 mutations in Bulgarian high risk breast cancer patients.BMC cancer · 2015Article
- Clinical relevance of CHEK2 and NBN mutations in the macedonian population.Balkan journal of medical genetics : BJMG · 2015Article
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Authors and funding
8 authors at 2 institutions in 2 countries.
Funding
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Abstract
The most significant and well characterized genetic risk factors for breast and/or ovarian cancer are germline mutations in the BRCA1 and BRCA2 genes. The BRCA1 and BRCA2 gene mutations strikingly increase breast cancer risk, suggesting that polymorphisms in these genes are logical candidates in seeking to identify low penetrance susceptibility alleles. The aim of this study was to initiate a screen for BRCA1/2 gene mutations in order to identify the genetic variants in the Republic of Macedonia, and to evaluate the association of several single nucleotide polymorphisms (SNPs) in these genes with breast cancer risk. In this study, we included 100 patients with invasive breast cancer from the Republic of Macedonia, classified according to their family history and 100 controls. The methodology included direct sequencing, single nucleotide primer extension method and multiplex ligation probe amplification (MLPA) analysis, all followed by capillary electrophoresis (CE) on an ABI PRISM™ 3130 Genetic Analyzer. We identified a total of seven carriers of mutations in the BRCA1/2 genes. None of the tested polymorphisms was associated with sporadic breast cancer risk, however, polymorphism rs8176267 in BRCA1 and N372H in BRCA2 showed an association with breast cancer risk in patients with at least one family member with breast cancer.
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