Clinical and Experimental MedicineGeneticsPeer-reviewed journal article
New single nucleotide polymorphisms (SNPs) in homologous recombination repair genes detected by microarray analysis in Polish breast cancer patients
Hanna RomanowicziD, Dominik StrapagieliD, Marcin SłomkaiD, Marta Sobalska‐KwapisiD, Ewa KępkaiD, Anna Siewierska-Górska, Marek ZadrożnyiD, Jan BieńkiewicziD, Beata SmolarziD
Abstract
Purpose of the studyBreast cancer is the most common cause of malignancy mortality in women worldwide. This study aimed at localising homologous recombination repair (HR) genes and their chromosomal loci and correlating their nucleotide variants with susceptibility to breast cancer. In this study authors analysed the association between single nucleotide polymorphisms (SNPs) in homologous recombination repair genes and the incidence of breast cancer in the population of Polish women.\n\nMethodsBlood samples from 94 breast cancer patients were analysed as test group. Individuals were recruited into the study at the Department of Oncological Surgery and Breast Diseases of the Institute of the Polish Mothers Memorial Hospital in Lodz, Poland. Healthy controls (n=500) were obtained from the Biobank Laboratory, Department of Molecular Biophysics, University of Lodz. Then, DNA of breast cancer patients was compared with one of disease-free women. The test was supported by microarray analysis.\n\nResultsStatistically significant correlations were identified between breast cancer and 3 not described previously single nucleotide polymorphisms (SNPs) of homologous recombination repair genes BRCA1 and BRCA2: rs59004709, rs4986852 and rs1799950.\n\nConclusionsFurther studies on larger groups are warranted to support the hypothesis of correlation between the above-mentioned genetic variants and breast cancer risk.
- organism: human
- assay: DNA methylation
- research focus: GWAS / association mapping
- approach: statistical model
- Citations
- 10
- FWCI
- 0.81
- Field percentile
- top 22%
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