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Marketa Janatova

Charles University and General University Hospital in Prague - Institute of Medical Biochemistry and Laboratory Diagnostics

Prague

Czech Republic

SCHOLARLY PAPERS

2

DOWNLOADS

104

TOTAL CITATIONS

0

Scholarly Papers (2)

1.

Large-Scale Meta-Analysis and Precision Functional Assays Identify Fancm Regions in Which Ptvs Confer Different Risks for Er-Negative and Triple-Negative Breast Cancer

Number of pages: 34 Posted: 17 Jul 2025
Amandine Billaud, Gisella Figlioli, Clémence Mooser, Irene Casamassima, Violette Azzoni, Jahnavi Srivatsa, Mara Colombo, Laura Caleca, Thomas U. Ahearn, Irene L. Andrulis, Antonis C. Antoniou, Matthias W. Beckmann, Sabine Behrens, Marina Bermisheva, Natalia V. Bogdanova, Manjeet K. Bolla, Bernardo Bonanni, Thomas Brüning, Nicola J. Camp, Archie Campbell, Jose E. Castelao, Melissa H. Cessna, Jenny Chang-Claude, NBCS Collaborators, Kamila Czene, Joe Dennis, Peter Devilee, Thilo Dörk, Alison M. Dunning, Mikael Eriksson, D. Gareth Evans, Peter A. Fasching, Jonine D. Figueroa, Marike Gabrielson, Manuela Gago-Dominguez, Anna González-Neira, Pascal Guénel, Andreas Hadjisavvas, Eric Hahnen, Ute Hamann, P. Hillemans, Antoinette Hollestelle, Maartje J. Hooning, Reiner Hoppe, Anthony Howell, kConFab Investigators kConFab, Anna Jakubowska, Vessela N. Kristensen, Jan Lubiński, Michael Luch, Siranoush Manoukian, Dimitrios Mavroudis, Roger Milne, Anna Marie Mulligan, William G. Newman, Nadia Obi, Mihalis Panagiotidis, Guillermo Pita, Muhammad U. Rashid, Valerie Rhenius, Emmanouil Saloustros, Elinor J. Sawyer, Rita K. Schmutzler, Mitul Shah, Melissa C. Southey, Amanda Spurdle, Ian Tomlinson, Thérèse Truong, Jean Wang, Camilla Wendt, Paul L. Auer, Nicholas J. Boddicker, Clara Bodelon, Elizabeth S. Burnside, Fei Chen, Fergus Couch, Susan M. Domchek, A. Heather Eliassen, Christopher Haiman, James Hodge, Chunling Hu, Hongyan Huang, Sara Lindstrom, Maria Elena Martinez, Katherine L. Nathanson, Susan L. Neuhausen, Katie M. O'Brien, Janet E. Olson, Julie R. Palmer, Alpa V. Patel, Kathryn J. Ruddy, Dale P. Sandler, Lauren Teras, Clarice R. Weinberg, Jeffrey N. Weitzel, Stacey J. Winham, Siddhartha Yadav, Song Yao, Gary Zirpoli, Marketa Janatova, Zdenek Kleibl, Petra Kleiblova, Jana Soukupova, CZECANCA Consortium, Qihong Zhao, Lisa Devereux, Paul A. James, Ian G. Campbell, Tu Nguyen-Dumont, James G. Dowty, Nadine Andrieu, Fabienne Lesueur, Dominique Stoppa-Lyonnet, GENESIS Consortium, Miguel De la Hoya, Paolo Radice, Claus Storgaard Sorensen and Paolo Peterlongo
affiliation not provided to SSRN, Humanitas University, University of Copenhagen, University of Bologna, University of Copenhagen, affiliation not provided to SSRN, Fondazione IRCCS Istituto Nazionale dei Tumori, Fondazione IRCCS Istituto Nazionale dei Tumori, Government of the United States of America - Division of Cancer Epidemiology and Genetics, University of Toronto, University of Cambridge - Centre for Cancer Genetic Epidemiology, affiliation not provided to SSRN, Pontificia Universidad Javeriana, affiliation not provided to SSRN, Hannover Medical School, University of Cambridge, European Institute of Oncology (IEO) IRCCS, affiliation not provided to SSRN, University of Utah, University of Edinburgh, Hospital Universitario de Santiago, Intermountain Healthcare, affiliation not provided to SSRN, affiliation not provided to SSRN, Karolinska Institutet, University of Cambridge - Centre for Cancer Genetic Epidemiology, affiliation not provided to SSRN, Hannover Medical School, University of Cambridge - Department of Oncology, Karolinska Institutet - Department of Medical Epidemiology and Biostatistics, The University of Manchester - Manchester Centre for Genomic Medicine, Friedrich-Alexander-Universität Erlangen-Nürnberg, University of Edinburgh, Karolinska Institutet, Hospital Universitario de Santiago, affiliation not provided to SSRN, University of Paris-Saclay - INSERM, CESP, affiliation not provided to SSRN, University of Cologne - Center for Integrated Oncology (CIO), German Cancer Research Center (DKFZ), Hannover Medical School, affiliation not provided to SSRN, Erasmus University Rotterdam (EUR) - Erasmus Medical Center (MC), University of Tübingen, The University of Manchester, Peter MacCallum Cancer Centre, Pomeranian Medical University, affiliation not provided to SSRN, Pomeranian Medical University, University of Cambridge - Centre for Cancer Genetic Epidemiology, Fondazione IRCCS Istituto Nazionale dei Tumori, University of Crete - Medical School, Cancer Council Victoria, University of Toronto, The University of Manchester, University Medical Center Hamburg- Eppendorf, The Cyprus Institute of Neurology & Genetics, Nicosia, affiliation not provided to SSRN, Shaukat Khanum Memorial Cancer Hospital and Research Centre, affiliation not provided to SSRN, University of Thessaly, King’s College London, affiliation not provided to SSRN, affiliation not provided to SSRN, Pontificia Universidad Javeriana, Berghofer Medical Research Institute; Faculty of Medicine, The University of Queensland, University of Oxford, University of Paris-Saclay, University of Cambridge - Centre for Cancer Genetic Epidemiology, affiliation not provided to SSRN, Medical College of Wisconsin, Mayo Clinic, Agency for Science, Technology and Research (A*STAR) - Genome Institute of Singapore, affiliation not provided to SSRN, affiliation not provided to SSRN, Mayo Clinic - Department of Pathology, University of Pennsylvania - Perelman School of Medicine, Harvard University, University of Southern California - Department of Preventive Medicine, American Cancer Society, Mayo Clinic, affiliation not provided to SSRN, University of Washington - Department of Epidemiology, affiliation not provided to SSRN, University of Pennsylvania, affiliation not provided to SSRN, National Health Research Institutes - National Institute of Environmental Health Sciences, Mayo Clinic, Boston University, American Cancer Society, Mayo Clinic, National Health Research Institutes - National Institute of Environmental Health Sciences, American Cancer Society, National Health Research Institutes - National Institute of Environmental Health Sciences, affiliation not provided to SSRN, affiliation not provided to SSRN, Mayo Clinic - Mayo Clinic Hospital, affiliation not provided to SSRN, affiliation not provided to SSRN, Charles University and General University Hospital in Prague - Institute of Medical Biochemistry and Laboratory Diagnostics, Charles University, Charles University, Charles University and General University Hospital in Prague - Institute of Medical Biochemistry and Laboratory Diagnostics, Monash University, Monash University, Monash University, Monash University, Monash University, Monash University, University of Melbourne, INSERM, U900, INSERM, U900, Institut Curie, affiliation not provided to SSRN, affiliation not provided to SSRN, Fondazione IRCCS Istituto Nazionale dei Tumori, affiliation not provided to SSRN and affiliation not provided to SSRN
Downloads 56 (1,000,027)

Abstract:

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FANCM, breast cancer risk, genetic predisposition, Meta-analysis, gene editing, CRISPR-Cas9

2.

A Deep Intronic Recurrent Chek2 Variant C.1009-118_1009-87delinsc Affects Pre-Mrna Splicing and Contributes to Hereditary Breast Cancer Predisposition

Number of pages: 9 Posted: 05 Mar 2024
Charles University and General University Hospital in Prague - Institute of Medical Biochemistry and Laboratory Diagnostics, Charles University and General University Hospital in Prague - Institute of Medical Biochemistry and Laboratory Diagnostics, Charles University, University of Cologne - Center for Integrated Oncology (CIO), Charles University and General University Hospital in Prague - Institute of Medical Biochemistry and Laboratory Diagnostics, Charles University and General University Hospital in Prague - Institute of Medical Biochemistry and Laboratory Diagnostics, University of Cologne - Center for Integrated Oncology (CIO), GENNET, University Hospital Pilsen - Institute of Medical Genetics, University Hospital Olomouc, Charles University, Ceske Budejovice - Hospital Ceske Budejovice, Charles University in Prague - Department of Pediatrics and Inherited Metabolic Disorders, Masaryk Memorial Cancer Institute, Charles University, University of Cologne - Center for Integrated Oncology (CIO), University of Cologne - Center for Integrated Oncology (CIO), GENNET, Charles University and General University Hospital in Prague - Institute of Medical Biochemistry and Laboratory Diagnostics, GHC Genetics, Charles University and General University Hospital in Prague - Institute of Medical Biochemistry and Laboratory Diagnostics, University Hospital Olomouc, Charles University, Charles University and General University Hospital in Prague - Institute of Medical Biochemistry and Laboratory Diagnostics, Pronatal, GENNET, AGEL Research and Training Institute - Department of Medical Genetics, Masaryk Memorial Cancer Institute - Department of Cancer Epidemiology and Genetics, Charles University, GHC Genetics, Masaryk Memorial Cancer Institute - Department of Cancer Epidemiology and Genetics, Charles University and General University Hospital in Prague - Institute of Medical Biochemistry and Laboratory Diagnostics, Charles University, Charles University and General University Hospital in Prague - Institute of Medical Biochemistry and Laboratory Diagnostics, Charles University and General University Hospital in Prague - Institute of Biology and Medical Genetics, Charles University and General University Hospital in Prague - Institute of Medical Biochemistry and Laboratory Diagnostics, Ceske Budejovice - Hospital Ceske Budejovice, Charles University and General University Hospital in Prague - Institute of Medical Biochemistry and Laboratory Diagnostics, Charles University, Charles University, University Hospital Pilsen - Institute of Medical Genetics, AGEL Research and Training Institute - Department of Medical Genetics, Charles University and General University Hospital in Prague - Institute of Medical Biochemistry and Laboratory Diagnostics, Charles University and General University Hospital in Prague - Institute of Biology and Medical Genetics, GHC Genetics, Charles University and General University Hospital in Prague - Department of Oncology, University of Cologne - Center for Integrated Oncology (CIO), Charles University, Charles University and Charles University
Downloads 48 (1,086,013)

Abstract:

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deep intronic CHEK2 variant, breast cancer, NGS, RNA analysis, genetic testing