Research Topics
Genomes and GenesSpecies | G KurzawskiSummaryAffiliation: University of Szczecin Country: Poland Publications
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Detail Information
Publications
Variant alleles of the CYP1B1 gene are associated with colorectal cancer susceptibilityJoanna Trubicka
Department of Genetics and Pathology, International Hereditary Cancer Center, Pomeranian Medical University, Szczecin, Poland
BMC Cancer 10:420. 2010..Because differences in the activity of the enzyme have been correlated with variant alleles of single nucleotide polymorphisms (SNPs), it represents an attractive candidate gene for studies into colorectal cancer susceptibility...
Inflammatory response gene polymorphisms and their relationship with colorectal cancer riskJanina Suchy
International Hereditary Cancer Center Department of Genetics and Pathology, Pomeranian Medical University, Szczecin, Poland
BMC Cancer 8:112. 2008..This fact suggests that genetic variations in inflammatory response genes may act as CRC disease risk modifiers...
Germline MSH2 and MLH1 mutational spectrum in HNPCC families from Poland and the Baltic StatesG Kurzawski
Hereditary Cancer Centre, Department of Genetics and Pathology, Pomeranian Academy of Medicine, Szczecin, Poland
J Med Genet 39:E65. 2002
Some aspects of molecular diagnostics in Lynch syndromeGrzegorz Kurzawski
International Hereditary Cancer Center, Department of Genetics and Pathology, Szczecin, Poland
Hered Cancer Clin Pract 4:197-205. 2006..An attempt to reveal other causes of familial aggregation of colorectal cancer has ruled out any association with C insertion in the NOD2 gene (Part 5)...
Germline MSH2 and MLH1 mutational spectrum including large rearrangements in HNPCC families from Poland (update study)G Kurzawski
International Hereditary Cancer Center Department of Genetics and Pathology, Universit of Szczecin and Pomeranian Medical University, Szczecin, Poland
Clin Genet 69:40-7. 2006....
The NOD2 3020insC mutation and the risk of colorectal cancerGrzegorz Kurzawski
International Hereditary Cancer Center, Department of Genetics and Pathology, Szczecin, Poland
Cancer Res 64:1604-6. 2004..23; P = 0.0046). The results indicate that NOD2 may be a predisposing factor to colorectal cancer characterized by an older average age of disease onset in persons who do not harbor any other genetic predisposition to disease...
Comparison of Alu-PCR, microsatelite instability, and immunohistochemical analyses in finding features characteristic for hereditary nonpolyposis colorectal cancerT Debniak
Department of Genetics and Pathology, Pomeranian Medical University, Poland
J Cancer Res Clin Oncol 127:565-9. 2001....
Fhit protein expression in hereditary and sporadic colorectal cancersP Hadaczek
Department of Genetics and Pathology, Pomeranian Academy of Medicine, Szczecin
Pol J Pathol 52:125-32. 2001..Our results suggest that the FHIT gene plays an important role in carcinogenesis of at least one fourth of all colorectal cancers...
Value of pedigree/clinical data, immunohistochemistry and microsatellite instability analyses in reducing the cost of determining hMLH1 and hMSH2 gene mutations in patients with colorectal cancerT Debniak
Department of Genetics and Pathology, Pomeranian Medical University, Szczecin, Poland
Eur J Cancer 36:49-54. 2000..In this approach, which seems to be the most effective in the search for hMLH1 and hMSH2 gene mutation, the cost was 1767 euro/mutation detected...
NOD2 variants and the risk of malignant melanomaT Debniak
Department of Genetics and Pathology, International Hereditary Cancer Center, Pomeranian Medical University, Szczecin, Poland
Eur J Cancer Prev 14:143-6. 2005..In conclusion, the three common NOD2 mutations are not associated with increased risk of development of malignant melanoma...
Optimization of experimental conditions for RNA-based sequencing of MLH1 and MSH2 genesA Jakubowska
Department of Genetics and Pathology, Pomeranian Academy of Medicine, Szczecin, Polabska, Poland
Hum Mutat 17:52-60. 2001..DNA sequencing using RNA as a basis for template construction may be a valuable and economical alternative to genomic DNA sequencing...
Germline 657del5 mutation in the NBS1 gene in patients with malignant melanoma of the skinTadeusz Debniak
Department of Genetics, Pomeranian Academy of Medicine, Szczecin 70 111, Poland
Melanoma Res 13:365-70. 2003..It seems that the 657del5 mutation of exon 6 of NBS1 gene may be responsible for the occurrence of a small proportion of MM patients, characterized by the occurrence of breast cancer among their relatives...
Long polymerase chain reaction in detection of germline deletions in the von Hippel-Lindau tumour suppressor geneC Cybulski
Department of Genetics and Pathology, Pomeranian Medical Academy, Poland
Hum Genet 105:333-6. 1999....
Increased risk of breast cancer in relatives of malignant melanoma patients from families with strong cancer familial aggregationT Debniak
Department of Genetics and Pathology, Pomeranian Academy of Medicine, Szczecin 70 111, Al Powst Wlkp 72, Poland
Eur J Cancer Prev 12:241-5. 2003..In conclusion, it seems to be justified to consider systematic breast surveillance beginning at the age around 35-40 years as an option in women from < or =55 MM/CFA families...
Ovarian cancer of endometrioid type as part of the MSH6gene mutation phenotypeJanina Suchy
Hereditary Cancer Center, Department of Genetics and Pathology, Pomeranian Academy of Medicine, ul Polabska 4, Szczecin 70 115, Poland
J Hum Genet 47:529-31. 2002..Our results and reports by others indicate that, besides colorectal and endometrial cancer, the late-onset endometrioid type of ovarian cancer can be a feature of families with MSH6 germline mutations...
Germline mutations in the von Hippel-Lindau (VHL) gene in patients from Poland: disease presentation in patients with deletions of the entire VHL geneC Cybulski
Department of Genetics and Pathology, Pomeranian Academy of Medicine, Szczecin, Poland
J Med Genet 39:E38. 2002
Polymorphism of GSTM1 gene in patients with colorectal cancer and colonic polypsB Gawronska-Szklarz
Department of Pharmacology and Toxicology, Medical Academy, Powstańców, Szczecin, Poland
Exp Toxicol Pathol 51:321-5. 1999..04). The above data indicate that the absence of the GSTM1 gene is associated with a greater risk of sporadic colorectal cancer. There is an increase in the overall risk of approximately 2.5 as compared with the control population...
CARD15 variants in patients with sporadic Parkinson's diseaseMonika Bialecka
Department of Experimental and Clinical Pharmacology, Pomeranian Medical University, Szczecin, Poland
Neurosci Res 57:473-6. 2007..5% of healthy controls (p<0.02, OR=1.73). The results of the study suggest, that the polymorphism in CARD15/NOD2 gene may be a risk factor for sporadic PD development, and support the concept of inflammatory pathogenesis of PD...
CHEK2 is a multiorgan cancer susceptibility geneC Cybulski
International Hereditary Cancer Center, Department of Genetics and Pathology, Pomeranian Medical University, Szczecin, Poland
Am J Hum Genet 75:1131-5. 2004..0; P=.001), kidney cancer (OR 2.1; P=.0006), prostate cancer (OR 1.7; P=.002), and thyroid cancer (OR 1.9; P=.04). The range of cancers associated with mutations of the CHEK2 gene may be much greater than previously thought...
Prevalence of the NOD2 3020insC mutation in aggregations of breast and lung cancerMarcin Radosław Lener
International Hereditary Cancer Center, Department of Genetics and Pathology, Pomeranian Medical University, Szczecin, Poland
Breast Cancer Res Treat 95:141-5. 2006..In conclusion, it appears that the 3020insC mutation of the NOD2/CARD15 gene may be a genetic predisposing factor for aggregations of breast and lung cancer...
Rarity of germline 1100delC mutation in CHK2 in patients with malignant melanoma of the skinTadeusz Debniak
Department of Genetics and Pathology, Pomeranian Academy of Medicine, Szczecin 70 111, Al Powst Wlkp 72, Poland
Melanoma Res 14:121-4. 2004..To evaluate whether this CHK2 founder mutation is associated with MM in patients with LFS syndrome, more MM cases from LFS families should be examined...
The 3020insC allele of NOD2 predisposes to early-onset breast cancerTomasz Huzarski
Pomeranian Medical University, Szczecin, Poland
Breast Cancer Res Treat 89:91-3. 2005..76), but significant associations were observed between the presence of the allele and early-onset breast cancer (OR = 1.9; p = 0.01) and between the allele and ductal breast cancer with an in situ component (OR = 2.2; p = 0.006)...
Importance of microsatellite instability (MSI) in colorectal cancer: MSI as a diagnostic toolG Kurzawski
International Hereditary Cancer Center and Department of Genetic and Pathology of Pomeranian Medical University, Szczecin, Poland
Ann Oncol 15:iv283-4. 2004
Relationship between acetylation polymorphism and risk of atopic diseasesB Gawronska-Szklarz
I Department of Pediatrics, Medical University, Szczecin, Poland
Clin Pharmacol Ther 65:562-9. 1999..69; 95% confidence interval, 2.33-9.59) compared with healthy subjects. We therefore concluded that slow acetylation genotype may be an important factor of individual susceptibility to atopic diseases...
CHEK2 mutations and HNPCC-related colorectal cancerJanina Suchy
International Hereditary Cancer Center, Department of Genetics and Pathology, Pomeranian Medical University, il Połabska 4, Szczecin, Poland
Int J Cancer 126:3005-9. 2010..5; p < 0.0001). We conclude that the I157T variant of CHEK2 increases the risk of colorectal cancer among MMR-negative, HNPCC/HNPCC-related families in Poland...
Combined iPLEX and TaqMan assays to screen for 45 common mutations in Lynch syndrome and FAP patientsDagmara Dymerska
International Hereditary Cancer Center, Department of Genetics and Pathology, Pomeranian Medical University, Połabska 4 Street, 70 115 Szczecin, Poland
J Mol Diagn 12:82-90. 2010..These results suggest that the combined iPLEX/TaqMan test is an outstanding tool for identification of recurrent mutations among hereditary colorectal cancer patients...
Germline 657del5 mutation in the NBS1 gene in breast cancer patientsBohdan Gorski
Department of Genetics and Pathology, Pomeranian Academy of Medicine, Szczecin 70 111, Al Powst Wlkp 72, Poland
Int J Cancer 106:379-81. 2003..It appears that the 657del5 mutation in exon 6 of the NBS1 gene is responsible for the occurrence of a small but significant proportion of familial breast cancer patients...
The 3020insC Allele of NOD2 Predisposes to Cancers of Multiple OrgansJan Lubinski
Pomeranian Medical University, Szczecin, Poland
Hered Cancer Clin Pract 3:59-63. 2005..3% of individuals) and may be responsible for an important fraction of cancer cases. We estimate that the lifetime cancer risk among carriers of this allele is 30% higher than that of individuals with two wild-type alleles...
HFE gene mutations in patients with alcoholic liver disease. A prospective study from northwestern PolandJoanna Raszeja-Wyszomirska
Liver Unit, Pomeranian Medical University, Szczecin, Poland
Pol Arch Med Wewn 120:127-31. 2010..It is genetic disorder of iron metabolism, leading to iron accumulation and increased liver fibrosis. The association between alcoholic liver disease (ALD) and HFE gene mutations remains unclear and requires clarification...
Nonalcoholic fatty liver disease and HFE gene mutations: a Polish studyJoanna Raszeja-Wyszomirska
Liver Unit, Pomeranian Medical University, ul Powstancow Wielkopolskich 72, 70 111 Szczecin, Poland
World J Gastroenterol 16:2531-6. 2010..To describe a Polish population with nonalcoholic fatty liver disease (NAFLD) with regard to HFE gene mutations, as well as analyzing demographic and clinical data...
Germline CHEK2 mutations and colorectal cancer risk: different effects of a missense and truncating mutations?Cezary Cybulski
Pomeranian Medical University, Szczecin, Poland
Eur J Hum Genet 15:237-41. 2007..It is important that other studies of CHEK2 mutation carriers be conducted to confirm this hypothesis...
Analysis of human CD36 gene sequence alterations in the oxidized low-density lipoprotein-binding region using denaturing high-performance liquid chromatographyMonika Ewa Rać
Department of Biochemistry and Medical Chemistry, Pomeranian Medical University, Szczecin, Poland
Genet Test Mol Biomarkers 14:551-7. 2010..DHPLC is a specific and cost-effective technique that may prove to be particularly useful for the identification of polymorphisms and mutations in the CD36 gene...
A novel founder CHEK2 mutation is associated with increased prostate cancer riskCezary Cybulski
International Hereditary Cancer Center, Department of Genetics and Pathology, Pomeranian Medical University, Szczecin, Poland
Cancer Res 64:2677-9. 2004..Our results provide evidence that the two truncating mutations of CHEK2 confer a moderate risk of prostate cancer in Polish men and that the missense change appears to confer a modest risk...
Mutation analysis of MLH1 and MSH2 genes performed by denaturing high-performance liquid chromatographyGrzegorz Kurzawski
Hereditary Cancer Center Department of Genetics and Pathology, Pomeranian Academy of Medicine, ul Polabska 4, 70 115, Szczecin, Poland
J Biochem Biophys Methods 51:89-100. 2002..DHPLC was confirmed to be highly sensitive, specific and a cost-effective technique with particularly high potential for the detection of MSH2 and MLH1 gene mutations in the diagnostic setting...
Electro-oculographic and electroretinographic studies in HNPCC gene mutation carriersWojciech Lubinski
Clinic of Ophthalmology, Hereditary Cancer Center, Pomeranian Acadamy of Medicine, Szczecin, Poland
Ophthalmic Res 35:281-94. 2003..To assess retinal function in HNPCC gene mutation carriers...
MC1R common variants, CDKN2A and their association with melanoma and breast cancer riskTadeusz Debniak
Department of Genetics and Pathology, International Hereditary Cancer Centre, Pomeranian Medical University, Szczecin, Poland
Int J Cancer 119:2597-602. 2006..The risk of disease seems to be increased additively for patients harbouring also the CDKN2A common variant A148T...
Polymorphism in the P-glycoprotein drug transporter MDR1 gene in colon cancer patientsMateusz Kurzawski
Department of Pharmacology, Pomeranian Medical University, Powstańców Wlkp 72 str, 70 111, Szczecin, Poland
Eur J Clin Pharmacol 61:389-94. 2005..In the present study, an association of MDR1 gene polymorphism and the occurrence of colon cancer were evaluated...
Clinical characteristics of tumors derived from colorectal cancer patients who harbor the tumor necrosis factor alpha-1031T/T and NOD2 3020insC polymorphismJózef Kładny
Department of General and Oncological Surgery, Pomeranian Medical University, Szczecin, Poland
Cancer Epidemiol 33:161-3. 2009..New investigations are revealing new genetic associations with disease that are more subtle in their association with disease and require characterization...
Germline mutation and large deletion analysis of the CDKN2A and ARF genes in families with multiple melanoma or an aggregation of malignant melanoma and breast cancerTadeusz Debniak
Department of Genetics and Pathology, International Hereditary Cancer Center, Pomeranian Medical University, Szczecin, Poland
Int J Cancer 110:558-62. 2004..The results revealed a paucity of mutations in CDKN2A/ARF, suggesting that in the Polish population this gene does not contribute significantly to either FMM or MM within the context of CFA...
Leptin receptor isoforms expressed in human adipose tissueD Kielar
Department of Clinical Biochemistry, Pomeranian Medical Academy, Szczecin, Poland
Metabolism 47:844-7. 1998..1 and huB219.3. The possible roles of these isoforms are discussed...
Molecular basis of inherited predispositions for tumorsJan Lubinski
Department of Genetics and Pathology, Pomeranian Academy of Medicine, Szczecin, Poland
Acta Biochim Pol 49:571-81. 2002....
CDKN2A common variant and multi-organ cancer risk--a population-based studyTadeusz Debniak
Department of Genetics and Pathology, International Hereditary Cancer Center, Pomeranian Medical University, Szczecin, Poland
Int J Cancer 118:3180-2. 2006..5; p = 0.5499). These results suggest that A148T variant may be associated with a multi-organ cancer risk in the Polish population...
Aurora-A and Cyclin D1 polymorphisms and the age of onset of colorectal cancer in hereditary nonpolyposis colorectal cancerBente A Talseth
Discipline of Medical Genetics, Faculty of Health, University of Newcastle, Newcastle, NSW, Australia
Int J Cancer 122:1273-7. 2008....
Nationwide study of clinical and molecular features of hereditary non-polyposis colorectal cancer (HNPCC) in LatviaArvids Irmejs
Hereditary Cancer Institute, Riga Stradins University, Riga, Latvia
Anticancer Res 27:653-8. 2007..This study was undertaken to investigate the clinical and molecular features of HNPCC in Latvia. MATERIALS and..
Frequency of mutations related to hereditary haemochromatosis in northwestern PolandJoanna Raszeja-Wyszomirska
Liver Unit, Department of Gastroenterology, Pomeranian Medical School, Unii Lubelskiej 1, 71 252 Szczecin, Poland
J Appl Genet 49:105-7. 2008..Twenty-one (1.4%) compound heterozygotes were found. These results correspond well with data from other Central European countries and seem to confirm the hypothesis of North-South spread of the C282Y mutation...
IGF1 is a modifier of disease risk in hereditary non-polyposis colorectal cancerStuart G Reeves
Discipline of Medical Genetics, Faculty of Health, University of Newcastle, and Hunter Medical Research Institute, NSW, Australia
Int J Cancer 123:1339-43. 2008..001). We conclude that the IGF1 CA repeat is an important modifier of disease onset in HNPCC and the first polymorphism to yield consistent results across different populations...
CDKN2A common variants and their association with melanoma risk: a population-based studyTadeusz Debniak
Departments of Genetics and Pathology, International Hereditary Cancer Center and Dermatology and Venerology, Pomeranian Medical University, Połabska 4, 70 115 Szczecin, Poland
Cancer Res 65:835-9. 2005..Additional studies are required to confirm whether this particular change is associated with increased risk of other nonmelanoma malignancies...
