Publications by authors named "Zdenek Kleibl"

49Publications

The Spectrum of Protein Truncating Variants in European Breast Cancer Cases.

Cancers (Basel) 2020 01 26;12(2). Epub 2020 Jan 26.

Genome Diagnostics Program, IFOM - the FIRC Institute for Molecular Oncology, Milan 20139, Italy.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.3390/cancers12020292DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7073216PMC
January 2020

Cancer Risks Associated With Germline Pathogenic Variants: An International Study of 524 Families.

Authors:
Xin Yang Goska Leslie Alicja Doroszuk Sandra Schneider Jamie Allen Brennan Decker Alison M Dunning James Redman James Scarth Inga Plaskocinska Craig Luccarini Mitul Shah Karen Pooley Leila Dorling Andrew Lee Muriel A Adank Julian Adlard Kristiina Aittomäki Irene L Andrulis Peter Ang Julian Barwell Jonine L Bernstein Kristie Bobolis Åke Borg Carl Blomqvist Kathleen B M Claes Patrick Concannon Adeline Cuggia Julie O Culver Francesca Damiola Antoine de Pauw Orland Diez Jill S Dolinsky Susan M Domchek Christoph Engel D Gareth Evans Florentia Fostira Judy Garber Lisa Golmard Ellen L Goode Stephen B Gruber Eric Hahnen Christopher Hake Tuomas Heikkinen Judith E Hurley Ramunas Janavicius Zdenek Kleibl Petra Kleiblova Irene Konstantopoulou Anders Kvist Holly Laduca Ann S G Lee Fabienne Lesueur Eamonn R Maher Arto Mannermaa Siranoush Manoukian Rachel McFarland Wendy McKinnon Alfons Meindl Kelly Metcalfe Nur Aishah Mohd Taib Jukka Moilanen Katherine L Nathanson Susan Neuhausen Pei Sze Ng Tu Nguyen-Dumont Sarah M Nielsen Florian Obermair Kenneth Offit Olufunmilayo I Olopade Laura Ottini Judith Penkert Katri Pylkäs Paolo Radice Susan J Ramus Vilius Rudaitis Lucy Side Rachel Silva-Smith Valentina Silvestri Anne-Bine Skytte Thomas Slavin Jana Soukupova Carlo Tondini Alison H Trainer Gary Unzeitig Lydia Usha Thomas van Overeem Hansen James Whitworth Marie Wood Cheng Har Yip Sook-Yee Yoon Amal Yussuf George Zogopoulos David Goldgar John L Hopper Georgia Chenevix-Trench Paul Pharoah Sophia H L George Judith Balmaña Claude Houdayer Paul James Zaki El-Haffaf Hans Ehrencrona Marketa Janatova Paolo Peterlongo Heli Nevanlinna Rita Schmutzler Soo-Hwang Teo Mark Robson Tuya Pal Fergus Couch Jeffrey N Weitzel Aaron Elliott Melissa Southey Robert Winqvist Douglas F Easton William D Foulkes Antonis C Antoniou Marc Tischkowitz

J Clin Oncol 2020 03 16;38(7):674-685. Epub 2019 Dec 16.

Department of Medical Genetics, NIHR Cambridge Biomedical Research Centre, and Cancer Research UK Cambridge Centre, University of Cambridge, Cambridge, United Kingdom.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1200/JCO.19.01907DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7049229PMC
March 2020

Functional characterization of CHEK2 variants in a Saccharomyces cerevisiae system.

Hum Mutat 2019 05 9;40(5):631-648. Epub 2019 Mar 9.

Molecular Diagnostics Laboratory, INRaSTES, National Center for Scientific Research "Demokritos", Athens, Greece.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/humu.23728DOI Listing
May 2019

Multiplex PCR and NGS-based identification of mRNA splicing variants: Analysis of BRCA1 splicing pattern as a model.

Gene 2017 Dec 14;637:41-49. Epub 2017 Sep 14.

Institute of Biochemistry and Experimental Oncology, First Faculty of Medicine, Charles University, Prague 12853, Czech Republic; Institute of Biology and Medical Genetics, First Faculty of Medicine, Charles University and General University Hospital in Prague, Prague 120 00, Czech Republic. Electronic address:

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.gene.2017.09.025DOI Listing
December 2017

Women at high risk of breast cancer: Molecular characteristics, clinical presentation and management.

Breast 2016 Aug 16;28:136-44. Epub 2016 Jun 16.

Department of Cancer Genetics, Institute for Cancer Research, Oslo University Hospital, Radiumhospitalet, Oslo, Norway; K.G. Jebsen Center for Breast Cancer Research, Institute of Clinical Medicine, Faculty of Medicine, University of Oslo, Oslo, Norway; Department of Clinical Molecular Biology (EpiGen), Akershus University Hospital, University of Oslo (UiO), Oslo, Norway. Electronic address:

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.breast.2016.05.006DOI Listing
August 2016

The c.657del5 variant in the NBN gene predisposes to pancreatic cancer.

Gene 2016 Aug 2;587(2):169-72. Epub 2016 May 2.

Institute of Biochemistry and Experimental Oncology, First Faculty of Medicine, Charles University in Prague, Prague, Czech Republic. Electronic address:

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.gene.2016.04.056DOI Listing
August 2016

Clinical relevance of DPYD variants c.1679T>G, c.1236G>A/HapB3, and c.1601G>A as predictors of severe fluoropyrimidine-associated toxicity: a systematic review and meta-analysis of individual patient data.

Lancet Oncol 2015 Dec 23;16(16):1639-50. Epub 2015 Oct 23.

Department of Clinical Pharmacology, Netherlands Cancer Institute, Amsterdam, Netherlands; Division of Molecular Pathology, Netherlands Cancer Institute, Amsterdam, Netherlands; Division of Pharmacoepidemiology and Clinical Pharmacology, Department of Pharmaceutical Sciences, Faculty of Science, Utrecht University, Utrecht, Netherlands. Electronic address:

View Article

Download full-text PDF

Source
http://www.thelancet.com/pdfs/journals/lanonc/PIIS1470-2045(
Web Search
http://linkinghub.elsevier.com/retrieve/pii/S147020451500286
Publisher Site
http://dx.doi.org/10.1016/S1470-2045(15)00286-7DOI Listing
December 2015

Association of Germline CHEK2 Gene Variants with Risk and Prognosis of Non-Hodgkin Lymphoma.

PLoS One 2015 27;10(10):e0140819. Epub 2015 Oct 27.

Institute of Biochemistry and Experimental Oncology, First Faculty of Medicine, Charles University in Prague, Prague, Czech Republic.

View Article

Download full-text PDF

Source
http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0140819PLOS
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4624763PMC
June 2016

Mutation Analysis of the RAD51C and RAD51D Genes in High-Risk Ovarian Cancer Patients and Families from the Czech Republic.

PLoS One 2015 9;10(6):e0127711. Epub 2015 Jun 9.

Institute of Biochemistry and Experimental Oncology, First Faculty of Medicine, Charles University in Prague, Prague, Czech Republic.

View Article

Download full-text PDF

Source
http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0127711PLOS
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4461297PMC
April 2016

Genetic markers of toxicity from capecitabine and other fluorouracil-based regimens: investigation in the QUASAR2 study, systematic review, and meta-analysis.

J Clin Oncol 2014 Apr 3;32(10):1031-9. Epub 2014 Mar 3.

Dan Rosmarin, Claire Palles, David Church, Enric Domingo, Angela Jones, Ian Tomlinson, Wellcome Trust Centre for Human Genetics, NIHR Comprehensive Biomedical Research Centre, University of Oxford; Dan Rosmarin, David Church, Elaine Johnstone, Haitao Wang, Sharon Love, Patrick Julier, Claire Scudder, George Nicholson, Rachel Midgley, David Kerr, and George Nicholson, University of Oxford, Oxford; Michael Braun, The Christie NHS Foundation Trust, Manchester; Matthew Seymour, St James's University Hospital, Leeds; Lindsay Thompson, Medical Research Council Clinical Trials Unit; Rohini Sharma, Imperial College Healthcare NHS Trust, Hammersmith and Charing Cross Hospitals, London, United Kingdom; Anna Gonzalez-Neira, Spanish National Cancer Research Centre; Miguel Martin, Instituto de Investigacion Sanitaria Hospital General Universitario Gregorio Marañón, Universidad Complutense, Madrid; Nuria Ribelles, Hospital Universitario Virgen de la Victoria, Málaga; Eva Martinez-Balibrea, Institut Català d'Oncologia, Institut de Recerca Sanitària Germans Trias i Pujol, Barcelona; Jesus Garcia-Foncillas, University Clinic of Navarra, University of Navarra, Pamplona, Spain; Daniel Sargent, Erin Green, Mayo Clinic, Rochester, MN; Howard McLeod, University of North Carolina, Chapel Hill, NC; Ulrich M. Zanger, Matthias Schwab, Dr Margarete Fischer-Bosch-Institute of Clinical Pharmacology, Stuttgart; Ulrich M. Zanger, Matthias Schwab, University Hospital Tuebingenl, Tuebingen, Germany; Benjamin Lacas, Valérie Boige, Jean-Pierre Pignon, Institut Gustave Roussy, Villejuif; Marie-Christine Etienne-Grimaldi, Gérard Milano, Centre Antoine Lacassagne, Nice; Thierry Lecomte, Pierre Laurent-Puig, Assistance Publique Hopitaux de Paris, Hopital Européen Georges Pompidou, Paris; Alain Morel, Institut National de la Sante et de la Recherche Medicale U564, Centre Paul Papin, Angers, France; Shoaib Afzal, Henrik Enghusen, Laboratory of Clinical Pharmacology, Rigshospitalet, Copenhagen; Sør

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1200/JCO.2013.51.1857DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4879695PMC
April 2014

The PALB2 gene is a strong candidate for clinical testing in BRCA1- and BRCA2-negative hereditary breast cancer.

Cancer Epidemiol Biomarkers Prev 2013 Dec 17;22(12):2323-32. Epub 2013 Oct 17.

Authors' Affiliations: Institute of Biochemistry and Experimental Oncology, First Faculty of Medicine, Charles University in Prague; Institutes of Biology and Medical Genetics and Pathology, and Department of Oncology, First Faculty of Medicine, Charles University in Prague and General University Hospital in Prague, Prague, Czech Republic.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1158/1055-9965.EPI-13-0745-TDOI Listing
December 2013

Gain-of-function mutations of PPM1D/Wip1 impair the p53-dependent G1 checkpoint.

J Cell Biol 2013 May 6;201(4):511-21. Epub 2013 May 6.

Institute of Biochemistry and Experimental Oncology, First Faculty of Medicine, Charles University in Prague, CZ-12853 Prague, Czech Republic.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1083/jcb.201210031DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3653305PMC
May 2013

Expression of human BRCA1Δ17-19 alternative splicing variant with a truncated BRCT domain in MCF-7 cells results in impaired assembly of DNA repair complexes and aberrant DNA damage response.

Cell Signal 2013 May 14;25(5):1186-93. Epub 2013 Feb 14.

Institute of Biochemistry and Experimental Oncology, First Faculty of Medicine, Charles University in Prague, U Nemocnice 5, CZ-128 53 Prague 2, Czech Republic.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.cellsig.2013.02.008DOI Listing
May 2013

Contribution of the β-ureidopropionase (UPB1) gene alterations to the development of fluoropyrimidine-related toxicity.

Pharmacol Rep 2012 ;64(5):1234-42

Institute of Biochemistry and Experimental Oncology, Charles University in Prague, First Faculty of Medicine, U Nemocnice 5, 128 53 Prague 2, Czech Republic.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/s1734-1140(12)70919-2DOI Listing
August 2013

The BRCA1 alternative splicing variant Δ14-15 with an in-frame deletion of part of the regulatory serine-containing domain (SCD) impairs the DNA repair capacity in MCF-7 cells.

Cell Signal 2012 May 3;24(5):1023-30. Epub 2012 Jan 3.

Institute of Biochemistry and Experimental Oncology, First Faculty of Medicine, Charles University in Prague, U Nemocnice 5, 128 53 Prague 2, Czech Republic.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.cellsig.2011.12.023DOI Listing
May 2012

No association between the TP53 codon 72 polymorphism and risk or prognosis of Hodgkin and non-Hodgkin lymphoma.

Leuk Res 2011 Aug 5;35(8):1117-9. Epub 2011 May 5.

1st Department of Medicine, 1st Faculty of Medicine, Charles University in Prague and General University Hospital in Prague, Prague, Czech Republic.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.leukres.2011.04.001DOI Listing
August 2011

CHEK2 gene alterations in the forkhead-associated domain, 1100delC and del5395 do not modify the risk of sporadic pancreatic cancer.

Cancer Epidemiol 2010 Oct;34(5):656-8

Toxicogenomics Unit, National Institute of Public Health, Srobarova 48, 100 42, Prague 10, Czech Republic.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.canep.2010.06.008DOI Listing
October 2010

The AIB1 gene polyglutamine repeat length polymorphism and the risk of breast cancer development.

J Cancer Res Clin Oncol 2011 Feb 27;137(2):331-8. Epub 2010 Apr 27.

Institute of Biochemistry and Experimental Oncology, First Faculty of Medicine, Charles University in Prague, U Nemocnice 5, 128 53 Prague 2, Czech Republic.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1007/s00432-010-0889-5DOI Listing
February 2011

Screening for genomic rearrangements in BRCA1 and BRCA2 genes in Czech high-risk breast/ovarian cancer patients: high proportion of population specific alterations in BRCA1 gene.

Breast Cancer Res Treat 2010 Nov 5;124(2):337-47. Epub 2010 Feb 5.

Institute of Biochemistry and Experimental Oncology, First Faculty of Medicine, Charles University in Prague, U Nemocnice 5, 128 53, Prague 2, Czech Republic.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1007/s10549-010-0745-yDOI Listing
November 2010

Contribution of dihydropyrimidinase gene alterations to the development of serious toxicity in fluoropyrimidine-treated cancer patients.

Cancer Chemother Pharmacol 2010 Mar 1;65(4):661-9. Epub 2009 Aug 1.

1st Faculty of Medicine, Institute of Biochemistry and Experimental Oncology, Charles University in Prague, U Nemocnice 5, 128 53, Prague 2, Czech Republic.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1007/s00280-009-1071-0DOI Listing
March 2010

Lack of large intragenic rearrangements in dihydropyrimidine dehydrogenase (DPYD) gene in fluoropyrimidine-treated patients with high-grade toxicity.

Cancer Chemother Pharmacol 2009 Aug 14;64(3):615-8. Epub 2009 Mar 14.

Institute of Biochemistry and Experimental Oncology, 1st Faculty of Medicine, Charles University in Prague, Prague 2, Czech Republic.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1007/s00280-009-0970-4DOI Listing
August 2009

The CHEK2 gene I157T mutation and other alterations in its proximity increase the risk of sporadic colorectal cancer in the Czech population.

Eur J Cancer 2009 Mar 6;45(4):618-24. Epub 2008 Nov 6.

Institute of Biochemistry and Experimental Oncology, 1st Faculty of Medicine, Charles University in Prague, U Nemocnice 5, 128 53, Prague 2, Czech Republic.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.ejca.2008.09.022DOI Listing
March 2009

Contribution of mutations in ATM to breast cancer development in the Czech population.

Oncol Rep 2008 Jun;19(6):1505-10

Department of Biochemistry and Experimental Oncology, First Faculty of Medicine, Charles University, Prague, Czech Republic.

View Article

Download full-text PDF

Source
June 2008

Analysis of CHEK2 FHA domain in Czech patients with sporadic breast cancer revealed distinct rare genetic alterations.

Breast Cancer Res Treat 2008 Nov 4;112(1):159-64. Epub 2007 Dec 4.

Institute of Biochemistry and Experimental Oncology, First Faculty of Medicine, Charles University in Prague, U Nemocnice 5, 128 53, Prague 2, Czech Republic.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1007/s10549-007-9838-7DOI Listing
November 2008

Novel complex genomic rearrangement of the BRCA1 gene.

Mutat Res 2008 Jan 7;637(1-2):205-8. Epub 2007 Aug 7.

Department of Biochemistry and Experimental Oncology, First Medical School of Charles University, U Nemocnice 5, 128 00, Prague, Czech Republic.

View Article

Download full-text PDF

Source
http://linkinghub.elsevier.com/retrieve/pii/S002751070700312
Publisher Site
http://dx.doi.org/10.1016/j.mrfmmm.2007.08.002DOI Listing
January 2008

A simple non-destructive test of cellular activity (NTCA) for in vitro assessment of cancer cell chemosensitivity/resistance.

Anticancer Res 2007 Jul-Aug;27(4B):2331-7

Department of Cytostatics Preparation, General Faculty Hospital Prague, Prague, Czech Republic.

View Article

Download full-text PDF

Source
September 2007

Rapid detection of CAA/CAG repeat polymorphism in the AIB1 gene using DHPLC.

J Biochem Biophys Methods 2007 Apr 9;70(3):511-3. Epub 2006 Dec 9.

Institute of Biochemistry and Experimental Oncology, First Faculty of Medicine, Charles University in Prague, Czech Republic.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.jbbm.2006.11.011DOI Listing
April 2007

Establishment, growth and in vivo differentiation of a new clonal human cell line, EM-G3, derived from breast cancer progenitors.

Breast Cancer Res Treat 2007 Jun 25;103(2):247-57. Epub 2006 Oct 25.

Department of Cell Biology, Institute of Molecular Genetics, Academy of Sciences of the Czech Republic, Flemingovo nam. 2, Prague 6, Czech Republic.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1007/s10549-006-9358-xDOI Listing
June 2007

The role of ATM in breast cancer development.

Breast Cancer Res Treat 2007 Aug 24;104(2):121-8. Epub 2006 Oct 24.

Department of Biochemistry and Experimental Oncology, First Faculty of Medicine, Charles University, Prague, Czech Republic.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1007/s10549-006-9406-6DOI Listing
August 2007

RNA regulation and cancer development.

Cancer Lett 2007 Feb 3;246(1-2):12-23. Epub 2006 May 3.

First Medical Faculty, Institute of Biochemistry and Experimental Oncology, Charles University, U Nemocnice 5, 128 53 Prague 2, Czech Republic.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.canlet.2006.03.021DOI Listing
February 2007

High proportion of recurrent germline mutations in the BRCA1 gene in breast and ovarian cancer patients from the Prague area.

Breast Cancer Res 2005 19;7(5):R728-36. Epub 2005 Jul 19.

Department of Biochemistry and Experimental Oncology, First Faculty of Medicine, Charles University, Prague, Czech Republic.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1186/bcr1282DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1242140PMC
February 2006

The CHEK2 c.1100delC germline mutation rarely contributes to breast cancer development in the Czech Republic.

Breast Cancer Res Treat 2005 Mar;90(2):165-7

Department of Biochemistry and Experimental Oncology, First Faculty of Medicine, Charles University, U Nemocnice 5, Prague, 12853, Czech Republic.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1007/s10549-004-4023-8DOI Listing
March 2005

Dipeptidyl peptidase-IV activity and/or structure homologues (DASH) in transformed neuroectodermal cells.

Adv Exp Med Biol 2003 ;524:95-102

Joint Laboratory of Cancer Cell Biology of the Institute of Biochemistry and Experimental Oncology, 1st Faculty of Medicine of Charles University Prague, Prague 2, 12853, Czech Republic.

View Article

Download full-text PDF

Source
http://link.springer.com/10.1007/0-306-47920-6_12
Publisher Site
http://dx.doi.org/10.1007/0-306-47920-6_12DOI Listing
July 2003