Jolanta Pamula-Pilat

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The purpose of our study was to establish the frequency and distribution of the four most common BRCA1 mutations in Polish general population and in a series of breast cancer patients. Analysis of the population frequency of 5382insC (c.5266dupC), 300T >G (p.181T >G), 185delAG (c.68_69delAG) and 3819del5 (c.3700_3704del5) mutations of the BRCA1 gene were(More)
BACKGROUND Ovarian malignancies are often diagnosed in advanced stage and at the same time resistance to treatment, both intrinsic and developed during treatment, is sometimes observed. These facts underscore the need for new markers of ovarian cancer risk, as well as markers of treatment effectiveness. METHODS In this study we genotyped 225 ovarian(More)
BACKGROUND Copy number polymorphisms caused by genomic rearrangements like deletions, make a significant contribution to the genomic differences between two individuals and may add to disease predisposition. Therefore, genotyping of such deletion polymorphisms in case-control studies could give important insights into risk associations. RESULTS We mapped(More)
The CRNDE gene seems to play an oncogenic role in cancers, though its exact function remains unknown. Here, we tried to assess its usefulness as a molecular prognostic marker in ovarian cancer. Based on results of our microarray studies, CRNDE transcripts were further analyzed by Real-Time qPCR-based profiling of their expression. The qPCR study was(More)
Clinical resistance to chemotherapy is one of the major problems in breast cancer treatment. In this study we analyzed possible impact of 22 polymorphic variants on the treatment response in 324 breast cancer patients. Selected genes were involved in FAC chemotherapy drugs transport (ABCB1, ABCC2, ABCG2, SLC22A16), metabolism (CYP1B1, CYP2C19, GSTT1, GSTM1,(More)
Single nucleotide polymorphisms modulate the risk of developing ovarian cancer during lifetime. In this study we analyzed 12 polymorphic variants and 2 deletions in and ATP7B genes. Ten genetic modifications were significantly associated with the risk of developing ovarian carci-noma in at least one of the groups under study. PGR gene polymorphisms' impact(More)
Copper is the trace element essential for the proper functioning of the cells because of its role as cofactor of many crucial enzymes, such as cytochrome c oxidase, superoxide dismutase and lysyl oxidase. Cellular transport system ensures the exact distribution of copper throughout the body and consequently its malfunction could lead to serious medical(More)
Human reaction to drugs, including chemotherapeutics, is an extremely complex process, with many enzymes of different metabolic and signal transduction pathways involved. Despite the knowledge already gathered, the exact mechanisms responsible for individual patients' responses to chemotherapy drugs, including adverse reactions, are still not clear.(More)
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