Publications by authors named "K M Kozakova Janikova"
Identifying novel epigenetic biomarkers is a promising way to improve the clinical management of patients with breast cancer. Our study aimed to determine the methylation pattern of 25 tumor suppressor genes (TSG) and select the best methylation biomarker associated with clinicopathological features in the cohort of Slovak patients diagnosed with invasive ductal carcinoma (IDC). Overall, 166 formalin-fixed, paraffin-embedded (FFPE) tissues obtained from patients with IDC were included in the study.
View Article and Find Full Text PDFBackground: Hereditary cancer syndromes are an important subset of malignant cancers caused by pathogenic variants in one of many known cancer predisposition genes. Diagnosis of cancer predisposition is based on genetic testing using next-generation sequencing. This allows many genes to be analysed at once, increasing the number of variants identified.
View Article and Find Full Text PDFArticle Synopsis
- PARP inhibitors work by blocking the repair of single-strand DNA breaks caused by tumor growth, leading to cell death when the homologous recombination repair system is dysfunctional, especially relevant for patients with serous ovarian epithelial tumors.
- Studies show that women with BRCA mutations exhibit the highest progression-free survival rates, although PARP inhibitors are also beneficial for those with a disrupted homologous recombination deficiency system, regardless of BRCA status.
- The research analyzed a group of women with high-grade serous ovarian cancer who had undergone at least two chemotherapy treatments, using the SOPHIA DDM™ tool to identify pathogenic variants in BRCA genes, confirming mutations in 50% of the participants in order to enhance patient management and treatment
Article Synopsis
- The Ministry of Health in Slovakia created a genomics surveillance workgroup to monitor SARS-CoV-2 using whole-genome sequencing (WGS) during the pandemic.
- A total of 33,024 SARS-CoV-2 isolates were sequenced from March 2021 to March 2022, with the majority successfully deposited in the GISAID database.
- The study identified four variants of concern (Alpha, Beta, Delta, and Omicron) and documented their prevalence during three major waves of infections in Slovakia.