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Open Access
Peer-reviewed
Research Article
Identification and Functional Testing of ERCC2 Mutations in a Multi-national Cohort of Patients with Familial Breast- and Ovarian Cancer
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Andreas Rump ,
Contributed equally to this work with: Andreas Rump, Anna Benet-Pages, Steffen Schubert
Affiliations Institute for Clinical Genetics, Faculty of Medicine Carl Gustav Carus, Technische Universität Dresden, Dresden, Germany, German Cancer Consortium (DKTK), Dresden, Germany, German Cancer Research Center (DKFZ), Heidelberg, Germany
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Anna Benet-Pages ,
Contributed equally to this work with: Andreas Rump, Anna Benet-Pages, Steffen Schubert
Affiliation MGZ—Medical Genetics Center, Munich, Germany
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Steffen Schubert ,
Contributed equally to this work with: Andreas Rump, Anna Benet-Pages, Steffen Schubert
Affiliation Clinic for Dermatology Venerology and Allergology, Göttingen, Germany
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Jan Dominik Kuhlmann ,
* E-mail: jan.kuhlmann@uniklinikum-dresden.de
Affiliations German Cancer Consortium (DKTK), Dresden, Germany, German Cancer Research Center (DKFZ), Heidelberg, Germany, National Center for Tumor Diseases (NCT), Partner Site Dresden, Germany, Department of Gynecology and Obstetrics, Medical Faculty and University Hospital Carl Gustav Carus, Technische Universität Dresden, Germany
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Ramūnas Janavičius,
Affiliations Vilnius University Hospital Santariskiu Clinics, Hematology, Oncology and Transfusion Medicine Center, Vilnius, Lithuania, State Research Institute Innovative Medicine Center, Vilnius, Lithuania
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Eva Macháčková,
Affiliation Masaryk Memorial Cancer Institute, Brno, Czech Republic
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Lenka Foretová,
Affiliation Masaryk Memorial Cancer Institute, Brno, Czech Republic
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Zdenek Kleibl,
Affiliation Institute of Biochemistry and Experimental Oncology, First Faculty of Medicine, Charles University in Prague, Prague, Czech Republic
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Filip Lhota,
Affiliation Institute of Biochemistry and Experimental Oncology, First Faculty of Medicine, Charles University in Prague, Prague, Czech Republic
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Petra Zemankova,
Affiliation Institute of Biochemistry and Experimental Oncology, First Faculty of Medicine, Charles University in Prague, Prague, Czech Republic
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Elitza Betcheva-Krajcir,
Affiliations Institute for Clinical Genetics, Faculty of Medicine Carl Gustav Carus, Technische Universität Dresden, Dresden, Germany, German Cancer Consortium (DKTK), Dresden, Germany, German Cancer Research Center (DKFZ), Heidelberg, Germany
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Luisa Mackenroth,
Affiliations Institute for Clinical Genetics, Faculty of Medicine Carl Gustav Carus, Technische Universität Dresden, Dresden, Germany, German Cancer Consortium (DKTK), Dresden, Germany, German Cancer Research Center (DKFZ), Heidelberg, Germany
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Karl Hackmann,
Affiliations Institute for Clinical Genetics, Faculty of Medicine Carl Gustav Carus, Technische Universität Dresden, Dresden, Germany, German Cancer Consortium (DKTK), Dresden, Germany, German Cancer Research Center (DKFZ), Heidelberg, Germany, National Center for Tumor Diseases (NCT), Partner Site Dresden, Germany
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Janin Lehmann,
Affiliation Clinic for Dermatology Venerology and Allergology, Göttingen, Germany
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Anke Nissen,
Affiliation MGZ—Medical Genetics Center, Munich, Germany
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Nataliya DiDonato,
Affiliations Institute for Clinical Genetics, Faculty of Medicine Carl Gustav Carus, Technische Universität Dresden, Dresden, Germany, German Cancer Consortium (DKTK), Dresden, Germany, German Cancer Research Center (DKFZ), Heidelberg, Germany
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Romy Opitz,
Affiliations German Cancer Consortium (DKTK), Dresden, Germany, German Cancer Research Center (DKFZ), Heidelberg, Germany, National Center for Tumor Diseases (NCT), Partner Site Dresden, Germany, Department of Gynecology and Obstetrics, Medical Faculty and University Hospital Carl Gustav Carus, Technische Universität Dresden, Germany
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Holger Thiele,
Affiliation Cologne Center for Genomics, Cologne, Germany
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Karin Kast,
Affiliations German Cancer Consortium (DKTK), Dresden, Germany, German Cancer Research Center (DKFZ), Heidelberg, Germany, National Center for Tumor Diseases (NCT), Partner Site Dresden, Germany, Department of Gynecology and Obstetrics, Medical Faculty and University Hospital Carl Gustav Carus, Technische Universität Dresden, Germany
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Pauline Wimberger,
Affiliations German Cancer Consortium (DKTK), Dresden, Germany, German Cancer Research Center (DKFZ), Heidelberg, Germany, National Center for Tumor Diseases (NCT), Partner Site Dresden, Germany, Department of Gynecology and Obstetrics, Medical Faculty and University Hospital Carl Gustav Carus, Technische Universität Dresden, Germany
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Elke Holinski-Feder,
Affiliation MGZ—Medical Genetics Center, Munich, Germany
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Steffen Emmert,
Affiliations Clinic for Dermatology Venerology and Allergology, Göttingen, Germany, Clinic of Dermatology, Rostock, Germany
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Evelin Schröck,
Affiliations Institute for Clinical Genetics, Faculty of Medicine Carl Gustav Carus, Technische Universität Dresden, Dresden, Germany, German Cancer Consortium (DKTK), Dresden, Germany, German Cancer Research Center (DKFZ), Heidelberg, Germany, National Center for Tumor Diseases (NCT), Partner Site Dresden, Germany
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Barbara Klink
Affiliations Institute for Clinical Genetics, Faculty of Medicine Carl Gustav Carus, Technische Universität Dresden, Dresden, Germany, German Cancer Consortium (DKTK), Dresden, Germany, German Cancer Research Center (DKFZ), Heidelberg, Germany, National Center for Tumor Diseases (NCT), Partner Site Dresden, Germany
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Identification and Functional Testing of ERCC2 Mutations in a Multi-national Cohort of Patients with Familial Breast- and Ovarian Cancer
- Andreas Rump,
- Anna Benet-Pages,
- Steffen Schubert,
- Jan Dominik Kuhlmann,
- Ramūnas Janavičius,
- Eva Macháčková,
- Lenka Foretová,
- Zdenek Kleibl,
- Filip Lhota,
- Petra Zemankova
- Published: August 9, 2016
- https://doi.org/10.1371/journal.pgen.1006248