Publications by authors named "Petra Kleiblova"

32Publications

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

Genetic Testing and Clinical Management Practices for Variants in Non-BRCA1/2 Breast (and Breast/Ovarian) Cancer Susceptibility Genes: An International Survey by the Evidence-Based Network for the Interpretation of Germline Mutant Alleles (ENIGMA) Clinical Working Group.

JCO Precis Oncol 2018 26;2. Epub 2018 Oct 26.

Maastricht University Medical Center, Maastricht.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1200/PO.18.00091DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6742430PMC
October 2018

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

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

Inhibition of WIP1 phosphatase sensitizes breast cancer cells to genotoxic stress and to MDM2 antagonist nutlin-3.

Oncotarget 2016 Mar;7(12):14458-75

Department of Cancer Cell Biology, Institute of Molecular Genetics of the ASCR, CZ-14220 Prague, Czech Republic.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.18632/oncotarget.7363DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4924728PMC
March 2016

Expression, Epigenetic and Genetic Changes of HNF1B in Endometrial Lesions.

Pathol Oncol Res 2016 Jul 19;22(3):523-30. Epub 2015 Dec 19.

Department of Pathology, First Faculty of Medicine and General University Hospital, Charles University in Prague, Studnickova 2, 2 12800, Prague, Czech Republic.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1007/s12253-015-0037-2DOI Listing
July 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

Atypical Polypoid Adenomyoma of the Uterus: An Immunohistochemical and Molecular Study of 21 Cases.

Am J Surg Pathol 2015 Aug;39(8):1148-55

*Department of Pathology, First Faculty of Medicine and General University Hospital ‡The Fingerland Department of Pathology, Faculty of Medicine and University Hospital Hradec Kralove §Department of Pathology and Molecular Medicine, Second Faculty of Medicine and Faculty Hospital in Motol ∥Department of Obstetrics and Gynecology, Oncogynecological Centre, First Faculty of Medicine and General University Hospital ¶Institute of Biochemistry and Experimental Oncology, First Faculty of Medicine #Institute of Biology and Medical Genetics, First Faculty of Medicine, General University Hospital in Prague, Charles University in Prague, Prague, Czech Republic †Department of Pathology, Royal Group of Hospitals Trust, Belfast, Northern Ireland, United Kingdom.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1097/PAS.0000000000000428DOI Listing
August 2015

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

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

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

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