scholarly journals Single Nucleotide Polymorphisms (SNPs) of RAD51-G172T and XRCC2-41657C/T Homologous Recombination Repair Genes and the Risk of Triple- Negative Breast Cancer in Polish Women

2015 ◽  
Vol 21 (4) ◽  
pp. 935-940 ◽  
Author(s):  
Magdalena M. Michalska ◽  
Dariusz Samulak ◽  
Hanna Romanowicz ◽  
Beata Smolarz
Keyword(s):  
Breast Cancer ◽  
Homologous Recombination ◽  
Single Nucleotide Polymorphisms ◽  
Triple Negative Breast Cancer ◽  
Triple Negative ◽  
Homologous Recombination Repair ◽  
Nucleotide Polymorphisms ◽  
Single Nucleotide ◽  
Recombination Repair ◽  
Repair Genes

Single Nucleotide Polymorphisms in the Homologous Recombination Repair Genes and Breast Cancer Risk in Polish Women

2011 ◽  
Vol 224 (3) ◽  
pp. 201-208 ◽  
Author(s):  
Hanna Romanowicz-Makowska ◽  
Beata Smolarz ◽  
Marek Zadrozny ◽  
Boguslaw Westfal ◽  
Jakub Baszczynski ◽  
...  
Keyword(s):  
Breast Cancer ◽  
Breast Cancer Risk ◽  
Homologous Recombination ◽  
Cancer Risk ◽  
Single Nucleotide Polymorphisms ◽  
Homologous Recombination Repair ◽  
Nucleotide Polymorphisms ◽  
Single Nucleotide ◽  
Recombination Repair ◽  
Repair Genes

scholarly journals New single nucleotide polymorphisms (SNPs) in homologous recombination repair genes detected by microarray analysis in Polish breast cancer patients

2016 ◽  
Author(s):  
Hanna Romanowicz ◽  
Dominik Strapagiel ◽  
Marcin Slomka ◽  
Marta Sobalska-Kwapis ◽  
Ewa Kepka ◽  
...  
Keyword(s):  
Breast Cancer ◽  
Homologous Recombination ◽  
Single Nucleotide Polymorphisms ◽  
Cancer Patients ◽  
Homologous Recombination Repair ◽  
Nucleotide Polymorphisms ◽  
Breast Cancer Patients ◽  
Single Nucleotide ◽  
Recombination Repair ◽  
Repair Genes

Purpose of the study: Breast 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. Methods: Blood 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 Mother 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. Results: Statistically 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. Conclusions: Further studies on larger groups are warranted to support the hypothesis of correlation between the above-mentioned genetic variants and breast cancer risk.

scholarly journals Single nucleotide polymorphisms (SNPs) of ERCC2, hOGG1, and XRCC1 DNA repair genes and the risk of triple-negative breast cancer in Polish women

Tumor Biology ◽  
2014 ◽  
Vol 35 (4) ◽  
pp. 3495-3502 ◽  
Author(s):  
Beata Smolarz ◽  
Marianna Makowska ◽  
Dariusz Samulak ◽  
Magdalena M. Michalska ◽  
Ewa Mojs ◽  
...  
Keyword(s):  
Breast Cancer ◽  
Dna Repair ◽  
Single Nucleotide Polymorphisms ◽  
Triple Negative Breast Cancer ◽  
Triple Negative ◽  
Dna Repair Genes ◽  
Nucleotide Polymorphisms ◽  
Single Nucleotide ◽  
Repair Genes

scholarly journals Combined homologous recombination repair deficiency and immune activation analysis for predicting intensified responses of anthracycline, cyclophosphamide and taxane chemotherapy in triple-negative breast cancer

BMC Medicine ◽  
2021 ◽  
Vol 19 (1) ◽  
Author(s):  
Gaoming Liao ◽  
Zedong Jiang ◽  
Yiran Yang ◽  
Cong Zhang ◽  
Meiting Jiang ◽  
...  
Keyword(s):  
Breast Cancer ◽  
Homologous Recombination ◽  
Triple Negative Breast Cancer ◽  
Immune Cells ◽  
Immune Activation ◽  
Triple Negative ◽  
Molecular Taxonomy ◽  
Homologous Recombination Repair ◽  
Repair Deficiency ◽  
Recombination Repair

Abstract Background Triple-negative breast cancer (TNBC) is a clinically aggressive disease with abundant variants that cause homologous recombination repair deficiency (HRD). Whether TNBC patients with HRD are sensitive to anthracycline, cyclophosphamide and taxane (ACT), and whether the combination of HRD and tumour immunity can improve the recognition of ACT responders are still unknown. Methods Data from 83 TNBC patients in The Cancer Genome Atlas (TCGA) was used as a discovery cohort to analyse the association between HRD and ACT chemotherapy benefits. The combined effects of HRD and immune activation on ACT chemotherapy were explored at both the genome and the transcriptome levels. Independent cohorts from the Molecular Taxonomy of Breast Cancer International Consortium (METABRIC) and Gene Expression Omnibus (GEO) were adopted to validate our findings. Results HRD was associated with a longer ACT chemotherapy failure-free interval (FFI) with a hazard ratio of 0.16 (P = 0.004) and improved patient prognosis (P = 0.0063). By analysing both HRD status and ACT response, we identified patients with a distinct TNBC subtype (ACT-S&HR-P) that showed higher tumour lymphocyte infiltration, IFN-γ activity and NK cell levels. Patients with ACT-S&HR-P had significantly elevated immune inhibitor levels and presented immune activation associated with the increased activities of both innate immune cells and adaptive immune cells, which suggested treatment with immune checkpoint blockade as an option for this subtype. Our analysis revealed that the combination of HRD and immune activation enhanced the efficiency of identifying responders to ACT chemotherapy (AUC = 0.91, P = 1.06e−04) and synergistically contributed to the clinical benefits of TNBC patients. A transcriptional HRD signature of ACT response-related prognostic factors was identified and independently validated to be significantly associated with improved survival in the GEO cohort (P = 0.0038) and the METABRIC dataset (P < 0.0001). Conclusions These findings highlight that HR deficiency prolongs FFI and predicts intensified responses in TNBC patients by combining HRD and immune activation, which provides a molecular basis for identifying ACT responders.

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