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Article ; Online: Selenium and cancer risk in CHEK2 mutation carriers

Gupta Satish / Jaworska Katarzyna / Durda Katarzyna / Sukiennicki Grzegorz / Muszyńska Magdalena / Jakubowska Anna / Lubinski Jan

Hereditary Cancer in Clinical Practice , Vol 10, Iss Suppl 3, p A

2012 Volume 19

Keywords	Neoplasms. Tumors. Oncology. Including cancer and carcinogens ; RC254-282 ; Internal medicine ; RC31-1245 ; Medicine ; R ; DOAJ:Oncology ; DOAJ:Medicine (General) ; DOAJ:Health Sciences
Language	English
Publishing date	2012-04-01T00:00:00Z
Publisher	BioMed Central
Document type	Article ; Online
Database	BASE - Bielefeld Academic Search Engine (life sciences selection)

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Article ; Online: Folic acid and breast cancer risk

Durda Katarzyna / Jaworska-Bieniek Katrzyna / Kąklewski Krzysztof / Lubiński Jan / Jakubowska Anna

Hereditary Cancer in Clinical Practice , Vol 10, Iss Suppl 4, p A

2012 Volume 7

Keywords	Neoplasms. Tumors. Oncology. Including cancer and carcinogens ; RC254-282 ; Internal medicine ; RC31-1245 ; Medicine ; R ; DOAJ:Oncology ; DOAJ:Medicine (General) ; DOAJ:Health Sciences
Language	English
Publishing date	2012-12-01T00:00:00Z
Publisher	BioMed Central
Document type	Article ; Online
Database	BASE - Bielefeld Academic Search Engine (life sciences selection)

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Article: Polymorphisms in

Białkowska, Katarzyna / Marciniak, Wojciech / Muszyńska, Magdalena / Baszuk, Piotr / Gupta, Satish / Jaworska-Bieniek, Katarzyna / Sukiennicki, Grzegorz / Durda, Katarzyna / Gromowski, Tomasz / Lener, Marcin / Prajzendanc, Karolina / Łukomska, Alicja / Cybulski, Cezary / Huzarski, Tomasz / Gronwald, Jacek / Dębniak, Tadeusz / Lubiński, Jan / Jakubowska, Anna

Hereditary cancer in clinical practice

2020 Volume 18, Page(s) 16

Abstract: Background: Matrix metalloproteinases (MMPs) and metallothioneins (MTs) are Zinc-related proteins which are involved in processes crucial for carcinogenesis such as angiogenesis, proliferation and apoptosis. Several single nucleotide polymorphisms (SNPs) ...

Abstract	Background: Matrix metalloproteinases (MMPs) and metallothioneins (MTs) are Zinc-related proteins which are involved in processes crucial for carcinogenesis such as angiogenesis, proliferation and apoptosis. Several single nucleotide polymorphisms (SNPs) in MMPs and MTs that affect genes expression have been associated with cancer risk, including breast, lung and colon. Methods: The study group consisted of 648 unselected patients (299 with breast cancer, 199 with lung cancer, 150 with colon cancer) and 648 unaffected individuals. Five SNPs, rs1799750 in Results: None of the 5 tested polymorphisms showed a correlation with cancer risk in studied groups, although for Conclusions: Analyses of polymorphisms, rs1799750 in
Language	English
Publishing date	2020-07-31
Publishing country	Poland
Document type	Journal Article
ZDB-ID	2252512-9
ISSN	1897-4287 ; 1731-2302
ISSN (online)	1897-4287
ISSN	1731-2302
DOI	10.1186/s13053-020-00147-w
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Article ; Online: Prevalence of Germline Mutations in Genes Engaged in DNA Damage Repair by Homologous Recombination in Patients with Triple-Negative and Hereditary Non-Triple-Negative Breast Cancers.

Domagala, Pawel / Jakubowska, Anna / Jaworska-Bieniek, Katarzyna / Kaczmarek, Katarzyna / Durda, Katarzyna / Kurlapska, Agnieszka / Cybulski, Cezary / Lubinski, Jan

PloS one

2015 Volume 10, Issue 6, Page(s) e0130393

Abstract: Purpose: This study sought to assess the prevalence of common germline mutations in several genes engaged in the repair of DNA double-strand break by homologous recombination in patients with triple-negative breast cancers and hereditary non-triple- ... ...

Abstract	Purpose: This study sought to assess the prevalence of common germline mutations in several genes engaged in the repair of DNA double-strand break by homologous recombination in patients with triple-negative breast cancers and hereditary non-triple-negative breast cancers. Tumors deficient in this type of DNA damage repair are known to be especially sensitive to DNA cross-linking agents (e.g., platinum drugs) and to poly(ADP-ribose) polymerase (PARP) inhibitors. Methods: Genetic testing was performed for 36 common germline mutations in genes engaged in the repair of DNA by homologous recombination, i.e., BRCA1, BRCA2, CHEK2, NBN, ATM, PALB2, BARD1, and RAD51D, in 202 consecutive patients with triple-negative breast cancers and hereditary non-triple-negative breast cancers. Results: Thirty five (22.2%) of 158 patients in the triple-negative group carried mutations in genes involved in DNA repair by homologous recombination, while 10 (22.7%) of the 44 patients in the hereditary non-triple-negative group carried such mutations. Mutations in BRCA1 were most frequent in patients with triple-negative breast cancer (18.4%), and mutations in CHEK2 were most frequent in patients with hereditary non-triple-negative breast cancers (15.9%). In addition, in the triple-negative group, mutations in CHEK2, NBN, and ATM (3.8% combined) were found, while mutations in BRCA1, NBN, and PALB2 (6.8% combined) were identified in the hereditary non-triple-negative group. Conclusions: Identifying mutations in genes engaged in DNA damage repair by homologous recombination other than BRCA1/2 can substantially increase the proportion of patients with triple-negative breast cancer and hereditary non-triple-negative breast cancer who may be eligible for therapy using PARP inhibitors and platinum drugs.
MeSH term(s)	Adult ; Aged ; Aged, 80 and over ; Biomarkers, Tumor/genetics ; Breast Neoplasms/epidemiology ; Breast Neoplasms/genetics ; Breast Neoplasms/pathology ; Carcinoma, Ductal, Breast/epidemiology ; Carcinoma, Ductal, Breast/genetics ; Carcinoma, Ductal, Breast/pathology ; Carcinoma, Lobular/epidemiology ; Carcinoma, Lobular/genetics ; Carcinoma, Lobular/pathology ; Cohort Studies ; DNA Damage/genetics ; DNA Repair/genetics ; Female ; Genetic Testing ; Germ-Line Mutation/genetics ; Homologous Recombination ; Humans ; Middle Aged ; Neoplasm Grading ; Poland/epidemiology ; Receptor, ErbB-2/metabolism ; Receptors, Estrogen/metabolism ; Receptors, Progesterone/metabolism ; Triple Negative Breast Neoplasms/epidemiology ; Triple Negative Breast Neoplasms/genetics ; Triple Negative Breast Neoplasms/pathology ; Young Adult
Chemical Substances	Biomarkers, Tumor ; Receptors, Estrogen ; Receptors, Progesterone ; ERBB2 protein, human (EC 2.7.10.1) ; Receptor, ErbB-2 (EC 2.7.10.1)
Language	English
Publishing date	2015-06-17
Publishing country	United States
Document type	Comparative Study ; Journal Article ; Research Support, Non-U.S. Gov't
ISSN	1932-6203
ISSN (online)	1932-6203
DOI	10.1371/journal.pone.0130393
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Article ; Online: Iron levels, genes involved in iron metabolism and antioxidative processes and lung cancer incidence.

Sukiennicki, Grzegorz Mariusz / Marciniak, Wojciech / Muszyńska, Magdalena / Baszuk, Piotr / Gupta, Satish / Białkowska, Katarzyna / Jaworska-Bieniek, Katarzyna / Durda, Katarzyna / Lener, Marcin / Pietrzak, Sandra / Gromowski, Tomasz / Prajzendanc, Karolina / Łukomska, Alicja / Waloszczyk, Piotr / Wójcik, Janusz Zenon / Scott, Rodney / Lubiński, Jan / Jakubowska, Anna

PloS one

2019 Volume 14, Issue 1, Page(s) e0208610

Abstract: Background: Lung cancer is the most common adult malignancy accounting for the largest proportion of cancer related deaths. Iron (Fe) is an essential trace element and is a component of several major metabolic pathways playing an important role in many ... ...

Abstract	Background: Lung cancer is the most common adult malignancy accounting for the largest proportion of cancer related deaths. Iron (Fe) is an essential trace element and is a component of several major metabolic pathways playing an important role in many physiological processes. In this study we evaluated the association between Fe concentration in serum, iron metabolism parameters and genetic variaton in 7 genes involved in iron metabolism and anti-oxidative processes with the incidence of lung cancer in Poland. Materials and methods: The study included 200 lung cancer patients and 200 matched healthy control subjects. We analyzed serum iron concentration and iron metabolism parameters (TIBC, UIBC, serum ferritin and transferrin saturation), and genotyped seven variants in seven genes: HFE, TFR1, HAMP, TF, SOD2, CAT and GPX1. Results: Lung cancer patients compared to their matched controls had significantly higher mean serum iron level (p = 0.01), ferritin level (p = 0.007) and TIBC (p = 0.006). Analysis revealed that higher concentration of iron and ferritin (IVth quartile) compared to the lower concentration (Ist quartile) was associated with over 2-fold increased lung cancer incidence. We also found that higher transferrin saturation (p = 0.01) and lower TIBC (p<0.01) are associated with better survival of lung cancer patients. The analysis of polymorphisms in iron related genes did not reveal a significant difference between lung cancer patients and controls. However, rs10421768 in HAMP showed a borderline statistically significant correlation with lung cancer risk (OR = 2.83, p = 0.05). Conclusions: The results of this case control study indicate that higher body iron represented by higher Fe and ferritin levels may be associated with lung cancer incidence. Rs10421768 in HAMP may be associated with about 3-times higher lung cancer risk. Higher Fe body content may be associated with better survival of lung cancer patients.
MeSH term(s)	Antioxidants/metabolism ; Genetic Variation ; Humans ; Incidence ; Iron/blood ; Iron/metabolism ; Lung Neoplasms/blood ; Lung Neoplasms/epidemiology ; Lung Neoplasms/genetics ; Lung Neoplasms/pathology ; Neoplasm Staging ; Risk Factors ; Survival Analysis
Chemical Substances	Antioxidants ; Iron (E1UOL152H7)
Language	English
Publishing date	2019-01-14
Publishing country	United States
Document type	Journal Article ; Research Support, Non-U.S. Gov't
ISSN	1932-6203
ISSN (online)	1932-6203
DOI	10.1371/journal.pone.0208610
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Article ; Online: Cardiac arrest caused by tension pneumomediastinum in a Boerhaave syndrome patient.

Paluszkiewicz, Piotr / Bartosinski, Jaroslaw / Rajewska-Durda, Katarzyna / Krupinska-Paluszkiewicz, Katarzyna

The Annals of thoracic surgery

2009 Volume 87, Issue 4, Page(s) 1257–1258

Abstract: This report presents a 23-year-old man with esophageal perforation, tension pneumomediastinum, and subsequent cardiorespiratory arrest. Initial resuscitation by cervical and subxiphoid mediastinotomy was ineffective. Bedside decompression of the ... ...

Abstract	This report presents a 23-year-old man with esophageal perforation, tension pneumomediastinum, and subsequent cardiorespiratory arrest. Initial resuscitation by cervical and subxiphoid mediastinotomy was ineffective. Bedside decompression of the posterior mediastinum through the esophageal hiatus of the diaphragm resulted in immediate return of a normal sinus rhythm and noncompromised mechanical ventilation. The patient made a full recovery and was discharged on day 12. Transhiatal decompression of the posterior mediastinum can be recommended for the treatment of cardiorespiratory complications in patients with tension pneumomediastinum in whom the classic cervical and subxiphoid mediastinotomies are ineffective.
MeSH term(s)	Esophageal Perforation/complications ; Heart Arrest/etiology ; Heart Arrest/therapy ; Humans ; Male ; Mediastinal Emphysema/etiology ; Mediastinal Emphysema/therapy ; Young Adult
Language	English
Publishing date	2009-04
Publishing country	Netherlands
Document type	Case Reports ; Journal Article
ZDB-ID	211007-6
ISSN	1552-6259 ; 0003-4975
ISSN (online)	1552-6259
ISSN	0003-4975
DOI	10.1016/j.athoracsur.2008.08.009
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Article ; Online: Newborn Screening for SCID and Other Severe Primary Immunodeficiency in the Polish-German Transborder Area: Experience From the First 14 Months of Collaboration.

Frontiers in immunology

2020 Volume 11, Page(s) 1948

Abstract: In 2017, in the Polish-German transborder area of West Pomerania, Mecklenburg-Western Pomerania, and Brandenburg, in collaboration with two centers in Warsaw, a partnership in the field of newborn screening (NBS) for severe primary immunodeficiency ... ...

Abstract	In 2017, in the Polish-German transborder area of West Pomerania, Mecklenburg-Western Pomerania, and Brandenburg, in collaboration with two centers in Warsaw, a partnership in the field of newborn screening (NBS) for severe primary immunodeficiency diseases (PID), mainly severe combined immunodeficiency (SCID), was initiated. SCID, but also some other severe PID, is a group of disorders characterized by the absence of T and/or B and NK cells. Affected infants are susceptible to life-threatening infections, but early detection gives a chance for effective treatment. The prevalence of SCID in the Polish and German populations is unknown but can be comparable to other countries (1:50,000-100,000). SCID NBS tests are based on real-time polymerase chain reaction (qPCR) and the measurement of a number of T cell receptor excision circles (TREC), kappa-deleting recombination excision circles (KREC), and beta-actin (ACTB) as a quality marker of DNA. This method can also be effective in NBS for other severe PID with T- and/or B-cell lymphopenia, including combined immunodeficiency (CID) or agammaglobulinemia. During the 14 months of collaboration, 44,287 newborns were screened according to the ImmunoIVD protocol. Within 65 positive samples, seven were classified to immediate recall and 58 requested a second sample. Examination of the 58 second samples resulted in recalling one newborn. Confirmatory tests included immunophenotyping of lymphocyte subsets with extension to TCR repertoire, lymphoproliferation tests, radiosensitivity tests, maternal engraftment assays, and molecular tests. Final diagnosis included: one case of T-B
MeSH term(s)	B-Lymphocytes/immunology ; Early Diagnosis ; Female ; Genetic Markers ; Genetic Predisposition to Disease ; Germany ; Humans ; Immunologic Tests ; Infant, Newborn ; Male ; Neonatal Screening ; Phenotype ; Poland ; Predictive Value of Tests ; Primary Immunodeficiency Diseases/diagnosis ; Primary Immunodeficiency Diseases/genetics ; Primary Immunodeficiency Diseases/immunology ; Real-Time Polymerase Chain Reaction ; Receptors, Antigen, T-Cell/genetics ; Reproducibility of Results ; Severe Combined Immunodeficiency/diagnosis ; Severe Combined Immunodeficiency/genetics ; Severe Combined Immunodeficiency/immunology ; T-Lymphocytes/immunology
Chemical Substances	Genetic Markers ; Receptors, Antigen, T-Cell
Language	English
Publishing date	2020-10-16
Publishing country	Switzerland
Document type	Journal Article ; Multicenter Study ; Research Support, Non-U.S. Gov't
ZDB-ID	2606827-8
ISSN	1664-3224 ; 1664-3224
ISSN (online)	1664-3224
ISSN	1664-3224
DOI	10.3389/fimmu.2020.01948
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Article ; Online: Serum folate concentration and the incidence of lung cancer.

Durda, Katarzyna / Kąklewski, Krzysztof / Gupta, Satish / Szydłowski, Michał / Baszuk, Piotr / Jaworska-Bieniek, Katarzyna / Sukiennicki, Grzegorz / Kaczmarek, Katarzyna / Waloszczyk, Piotr / Narod, Steven / Lubiński, Jan / Jakubowska, Anna

PloS one

2017 Volume 12, Issue 5, Page(s) e0177441

Abstract: Background: Lung cancer is a leading cause of cancer-related mortality globally. Folate helps to maintain DNA integrity and to regulate gene expression. Serum folate levels may affect the risk of several cancers, including lung cancer. In this study we ... ...

Abstract	Background: Lung cancer is a leading cause of cancer-related mortality globally. Folate helps to maintain DNA integrity and to regulate gene expression. Serum folate levels may affect the risk of several cancers, including lung cancer. In this study we evaluated the association between serum folate concentration and variations in genes involved in folate metabolism with lung cancer incidence in Poland. Methods: The study included 366 lung cancer patients and 366 control subjects. We measured serum folate concentration and genotyped six variants in MTHFR, MTR and MTRR genes. The odds ratios of being diagnosed with lung cancer were calculated using conditional univariable and multivariable logistic regression with respect to folate level and genotypes. Results: The mean serum folate level was lower in lung cancer cases than in control group (20.07 nmol/l vs. 22.52 nmol/l, p = 0.002). The odds ratio for lung cancer declined with increasing serum content of the folate. The folate concentration of >25.71 nmol/l (IVth quartile) in comparison to <15.92 nmol/l (Ist quartile) was associated with an odds ratio of 0.61 (95%CI 0.40-0.95, p = 0.03). The analysis of variations in MTHFR, MTR and MTRR genes did not reveal any significant difference between lung cancer cases and controls in univariable and multivariable analyses. Conclusion: In this case-control study, lower serum folate concentrations were associated with a higher risk of lung cancer diagnosis. Although previous findings have been somewhat mixed, our results add to the evidence that circulating folate levels may be an indicator of lung cancer risk.
MeSH term(s)	5-Methyltetrahydrofolate-Homocysteine S-Methyltransferase/genetics ; Adult ; Aged ; Aged, 80 and over ; Case-Control Studies ; Female ; Ferredoxin-NADP Reductase/genetics ; Folic Acid/blood ; Genotype ; Humans ; Incidence ; Logistic Models ; Lung Neoplasms/blood ; Lung Neoplasms/epidemiology ; Lung Neoplasms/genetics ; Methylenetetrahydrofolate Reductase (NADPH2)/genetics ; Middle Aged ; Odds Ratio ; Polymorphism, Single Nucleotide/genetics ; Risk Factors
Chemical Substances	Folic Acid (935E97BOY8) ; methionine synthase reductase (EC 1.18.1.-) ; Ferredoxin-NADP Reductase (EC 1.18.1.2) ; MTHFR protein, human (EC 1.5.1.20) ; Methylenetetrahydrofolate Reductase (NADPH2) (EC 1.5.1.20) ; 5-Methyltetrahydrofolate-Homocysteine S-Methyltransferase (EC 2.1.1.13) ; MTR protein, human (EC 2.1.1.13.)
Language	English
Publishing date	2017
Publishing country	United States
Document type	Journal Article
ISSN	1932-6203
ISSN (online)	1932-6203
DOI	10.1371/journal.pone.0177441
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Article ; Online: Arsenic (As) and breast cancer risk

Muszyńska Magdalena / Jaworska-Bieniek Katarzyna / Durda Katarzyna / Sukiennicki Grzegorz / Gromowski Tomasz / Jakubowska Anna / Morawski Antoni / Lubiński Jan

Hereditary Cancer in Clinical Practice , Vol 10, Iss Suppl 4, p A

2012 Volume 8

Abstract: Abstract The study was conducted to determine the correlations between serum concentration of arsenic (As) with increased or decreased predisposition to breast and ovarian cancer. ...

Abstract	Abstract The study was conducted to determine the correlations between serum concentration of arsenic (As) with increased or decreased predisposition to breast and ovarian cancer.
Keywords	Neoplasms. Tumors. Oncology. Including cancer and carcinogens ; RC254-282 ; Internal medicine ; RC31-1245 ; Medicine ; R ; DOAJ:Oncology ; DOAJ:Medicine (General) ; DOAJ:Health Sciences
Language	English
Publishing date	2012-12-01T00:00:00Z
Publisher	BioMed Central
Document type	Article ; Online
Database	BASE - Bielefeld Academic Search Engine (life sciences selection)

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Article ; Online: Association of zinc level and polymorphism in MMP-7 gene with prostate cancer in Polish population.

Białkowska, Katarzyna / Marciniak, Wojciech / Muszyńska, Magdalena / Baszuk, Piotr / Gupta, Satish / Jaworska-Bieniek, Katarzyna / Sukiennicki, Grzegorz / Durda, Katarzyna / Gromowski, Tomasz / Prajzendanc, Karolina / Cybulski, Cezary / Huzarski, Tomasz / Gronwald, Jacek / Dębniak, Tadeusz / Scott, Rodney J / Lubiński, Jan / Jakubowska, Anna

PloS one

2018 Volume 13, Issue 7, Page(s) e0201065

Abstract: Introduction: Prostate cancer is one of the most commonly diagnosed malignancies among men in Western populations. Evidence reported in the literature suggests that zinc may be related to prostate cancer. In this study we evaluated the association of ... ...

Abstract	Introduction: Prostate cancer is one of the most commonly diagnosed malignancies among men in Western populations. Evidence reported in the literature suggests that zinc may be related to prostate cancer. In this study we evaluated the association of serum zinc levels and polymorphisms in genes encoding zinc-dependent proteins with prostate cancer in Poland. Methods: The study group consisted of 197 men affected with prostate cancer and 197 healthy men. Serum zinc levels were measured and 5 single nucleotide polymorphisms in MMP-1, MMP-2, MMP-7, MMP-13, MT2A genes were genotyped. Results: The mean serum zinc level was higher in prostate cancer patients than in healthy controls (898.9±12.01 μg/l vs. 856.6±13.05 μg/l, p<0.01). When compared in quartiles a significant association of higher zinc concentration with the incidence of prostate cancer was observed. The highest OR (OR = 4.41, 95%CI 2.07-9.37, p<0.01) was observed in 3rd quartile (>853.0-973.9 μg/l). Among five analyzed genetic variants, rs11568818 in MMP-7 appeared to be correlated with 2-fold increased prostate cancer risk (OR = 2.39, 95% CI = 1.19-4.82, p = 0.015). Conclusion: Our results suggest a significant correlation of higher serum zinc levels with the diagnosis of prostate cancer. The polymorphism rs11568818 in MMP-7 gene was also associated with an increased prostate cancer risk in Poland.
MeSH term(s)	Case-Control Studies ; European Continental Ancestry Group/genetics ; Genetic Predisposition to Disease ; Humans ; Incidence ; Male ; Matrix Metalloproteinase 1/genetics ; Matrix Metalloproteinase 13/genetics ; Matrix Metalloproteinase 2/genetics ; Matrix Metalloproteinase 7/genetics ; Metallothionein/genetics ; Poland/epidemiology ; Polymorphism, Single Nucleotide ; Prostatic Neoplasms/blood ; Prostatic Neoplasms/epidemiology ; Prostatic Neoplasms/genetics ; Retrospective Studies ; Zinc/blood
Chemical Substances	MT2A protein, human ; Metallothionein (9038-94-2) ; MMP13 protein, human (EC 3.4.24.-) ; Matrix Metalloproteinase 13 (EC 3.4.24.-) ; MMP7 protein, human (EC 3.4.24.23) ; Matrix Metalloproteinase 7 (EC 3.4.24.23) ; MMP2 protein, human (EC 3.4.24.24) ; Matrix Metalloproteinase 2 (EC 3.4.24.24) ; MMP1 protein, human (EC 3.4.24.7) ; Matrix Metalloproteinase 1 (EC 3.4.24.7) ; Zinc (J41CSQ7QDS)
Language	English
Publishing date	2018-07-23
Publishing country	United States
Document type	Journal Article ; Research Support, Non-U.S. Gov't
ISSN	1932-6203
ISSN (online)	1932-6203
DOI	10.1371/journal.pone.0201065
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