Polygenic risk scores indicate extreme ages at onset of breast cancer in female BRCA1/2 pathogenic variant carriers.

Autor: Borde J; Center for Familial Breast and Ovarian Cancer, Center for Integrated Oncology (CIO), Medical Faculty, University Hospital Cologne, Kerpener Straße 62, Cologne, 50937, Germany., Laitman Y; Oncogenetics Unit, Sheba Medical Center, Tel Hashomer, Israel.; Sackler School of Medicine, Tel Aviv University, Tel-Aviv, Israel., Blümcke B; Center for Familial Breast and Ovarian Cancer, Center for Integrated Oncology (CIO), Medical Faculty, University Hospital Cologne, Kerpener Straße 62, Cologne, 50937, Germany., Niederacher D; Department of Gynaecology and Obstetrics, University Hospital Duesseldorf, Heinrich-Heine University, Duesseldorf, Germany., Weber-Lassalle K; Center for Familial Breast and Ovarian Cancer, Center for Integrated Oncology (CIO), Medical Faculty, University Hospital Cologne, Kerpener Straße 62, Cologne, 50937, Germany., Sutter C; Institute of Human Genetics, University of Heidelberg, Heidelberg, Germany., Rump A; Institute of Clinical Genetics, Technische Universitaet Dresden, Dresden, Germany., Arnold N; Institute of Clinical Molecular Biology, Department of Gynaecology and Obstetrics, University Hospital of Schleswig-Holstein, Campus Kiel, Christian-Albrechts University Kiel, Kiel, Germany., Wang-Gohrke S; Department of Gynaecology and Obstetrics, University Hospital Ulm, Ulm, Germany., Horváth J; Institute for Human Genetics, University Hospital Muenster, Muenster, Germany., Gehrig A; Institute of Human Genetics, Julius-Maximilians University, Wuerzburg, Germany., Schmidt G; Institute of Human Genetics, Hannover Medical School, Hannover, Germany., Dutrannoy V; Institute of Medical and Human Genetics, Charité Universitaetsmedizin, Berlin, Germany., Ramser J; Department for Gynaecology and Obstetrics, Division of Tumor Genetics, Klinikum rechts der Isar, Technical University Munich, Munich, Germany., Hentschel J; Institute of Human Genetics, University of Leipzig Hospitals and Clinics, Leipzig, Germany., Meindl A; Department of Gynaecology and Obstetrics, LMU Munich, University Hospital Munich, Munich, Germany., Schroeder C; Institute of Medical Genetics and Applied Genomics, University of Tübingen, Tübingen, Germany., Wappenschmidt B; Center for Familial Breast and Ovarian Cancer, Center for Integrated Oncology (CIO), Medical Faculty, University Hospital Cologne, Kerpener Straße 62, Cologne, 50937, Germany., Engel C; Institute for Medical Informatics, Statistics and Epidemiology (IMISE), Leipzig, Germany., Kuchenbaecker K; Division of Psychiatry, University College London, London, UK.; UCL Genetics Institute, University College London, London, UK., Schmutzler RK; Center for Familial Breast and Ovarian Cancer, Center for Integrated Oncology (CIO), Medical Faculty, University Hospital Cologne, Kerpener Straße 62, Cologne, 50937, Germany., Friedman E; Oncogenetics Unit, Sheba Medical Center, Tel Hashomer, Israel.; Sackler School of Medicine, Tel Aviv University, Tel-Aviv, Israel., Hahnen E; Center for Familial Breast and Ovarian Cancer, Center for Integrated Oncology (CIO), Medical Faculty, University Hospital Cologne, Kerpener Straße 62, Cologne, 50937, Germany., Ernst C; Center for Familial Breast and Ovarian Cancer, Center for Integrated Oncology (CIO), Medical Faculty, University Hospital Cologne, Kerpener Straße 62, Cologne, 50937, Germany. corinna.ernst@uk-koeln.de.

Publikováno v: BMC cancer [BMC Cancer] 2022 Jun 27; Vol. 22 (1), pp. 706. Date of Electronic Publication: 2022 Jun 27.

Performance of Breast Cancer Polygenic Risk Scores in 760 Female CHEK2 Germline Mutation Carriers.

Autor: Borde J; Center for Familial Breast and Ovarian Cancer, Center for Integrated Oncology (CIO), University of Cologne, Faculty of Medicine and University Hospital Cologne, Cologne, Germany., Ernst C; Center for Familial Breast and Ovarian Cancer, Center for Integrated Oncology (CIO), University of Cologne, Faculty of Medicine and University Hospital Cologne, Cologne, Germany., Wappenschmidt B; Center for Familial Breast and Ovarian Cancer, Center for Integrated Oncology (CIO), University of Cologne, Faculty of Medicine and University Hospital Cologne, Cologne, Germany., Niederacher D; Department of Gynecology and Obstetrics, University Hospital Duesseldorf, Heinrich-Heine University Duesseldorf, Duesseldorf, Germany., Weber-Lassalle K; Center for Familial Breast and Ovarian Cancer, Center for Integrated Oncology (CIO), University of Cologne, Faculty of Medicine and University Hospital Cologne, Cologne, Germany., Schmidt G; Institute of Human Genetics, Hannover Medical School, Hannover, Germany., Hauke J; Center for Familial Breast and Ovarian Cancer, Center for Integrated Oncology (CIO), University of Cologne, Faculty of Medicine and University Hospital Cologne, Cologne, Germany., Quante AS; Department of Gynecology and Obstetrics, Technical University Munich, University Hospital Rechts der Isar, Munich, Germany., Weber-Lassalle N; Center for Familial Breast and Ovarian Cancer, Center for Integrated Oncology (CIO), University of Cologne, Faculty of Medicine and University Hospital Cologne, Cologne, Germany., Horváth J; Institute for Human Genetics, University Hospital Muenster, Muenster, Germany., Pohl-Rescigno E; Center for Familial Breast and Ovarian Cancer, Center for Integrated Oncology (CIO), University of Cologne, Faculty of Medicine and University Hospital Cologne, Cologne, Germany., Arnold N; Institute of Clinical Molecular Biology, Department of Gynaecology and Obstetrics, University Hospital of Schleswig-Holstein, Campus Kiel, Christian-Albrechts University Kiel, Kiel, Germany., Rump A; Institute for Clinical Genetics, Technische Universitaet Dresden, Dresden, Germany., Gehrig A; Institute of Human Genetics, Julius-Maximilians-Universität Würzburg, Würzburg, Germany., Hentschel J; Institute of Human Genetics, University of Leipzig Hospitals and Clinics, Leipzig, Germany., Faust U; Institute of Medical Genetics and Applied Genomics, University Hospital Tuebingen, Tuebingen, Germany., Dutrannoy V; Institute of Medical and Human Genetics, Charité Universitätsmedizin Berlin, Berlin, Germany., Meindl A; Department of Gynecology and Obstetrics, Ludwig-Maximilians-University Munich, University Hospital Munich, Munich, Germany., Kuzyakova M; Institute of Human Genetics, University Medical Center, Georg August University, Goettingen, Germany., Wang-Gohrke S; Department of Gynaecology and Obstetrics, University Hospital Ulm, Ulm, Germany., Weber BHF; Institute of Human Genetics, University of Regensburg, Regensburg, Germany.; Institute of Clinical Human Genetics, University Hospital Regensburg, Regensburg, Germany., Sutter C; Institute of Human Genetics, University of Heidelberg, Heidelberg, Germany., Volk AE; Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, Hamburg, Germany., Giannakopoulou O; Division of Psychiatry, University College London, London, UK.; UCL Genetics Institute, University College London, London, UK., Lee A; Department of Public Health and Primary Care, Centre for Cancer Genetic Epidemiology, University of Cambridge, Cambridge, UK., Engel C; Institute for Medical Informatics, Statistics and Epidemiology, University of Leipzig, Leipzig, Germany., Schmidt MK; Division of Molecular Pathology, Netherlands Cancer Institute, Amsterdam, The Netherlands., Antoniou AC; Department of Public Health and Primary Care, Centre for Cancer Genetic Epidemiology, University of Cambridge, Cambridge, UK., Schmutzler RK; Center for Familial Breast and Ovarian Cancer, Center for Integrated Oncology (CIO), University of Cologne, Faculty of Medicine and University Hospital Cologne, Cologne, Germany., Kuchenbaecker K; Division of Psychiatry, University College London, London, UK.; UCL Genetics Institute, University College London, London, UK., Hahnen E; Center for Familial Breast and Ovarian Cancer, Center for Integrated Oncology (CIO), University of Cologne, Faculty of Medicine and University Hospital Cologne, Cologne, Germany.

Publikováno v: Journal of the National Cancer Institute [J Natl Cancer Inst] 2021 Jul 01; Vol. 113 (7), pp. 893-899.

Germline loss-of-function variants in the BARD1 gene are associated with early-onset familial breast cancer but not ovarian cancer.

Autor: Weber-Lassalle N; Center for Hereditary Breast and Ovarian Cancer, Center for Integrated Oncology (CIO), University of Cologne, Faculty of Medicine and University Hospital Cologne, Kerpener Str. 34, 50931, Cologne, Germany., Borde J; Center for Hereditary Breast and Ovarian Cancer, Center for Integrated Oncology (CIO), University of Cologne, Faculty of Medicine and University Hospital Cologne, Kerpener Str. 34, 50931, Cologne, Germany., Weber-Lassalle K; Center for Hereditary Breast and Ovarian Cancer, Center for Integrated Oncology (CIO), University of Cologne, Faculty of Medicine and University Hospital Cologne, Kerpener Str. 34, 50931, Cologne, Germany., Horváth J; Institute for Human Genetics, University Hospital Muenster, Muenster, Germany., Niederacher D; Department of Gynaecology and Obstetrics, University Hospital Duesseldorf, Heinrich-Heine University Duesseldorf, Duesseldorf, Germany., Arnold N; Institute of Clinical Molecular Biology, Department of Gynaecology and Obstetrics, University Hospital of Schleswig-Holstein, Campus Kiel, Christian-Albrechts University Kiel, Kiel, Germany., Kaulfuß S; Institute of Human Genetics, University Medical Center, Georg August University, Goettingen, Germany., Ernst C; Center for Hereditary Breast and Ovarian Cancer, Center for Integrated Oncology (CIO), University of Cologne, Faculty of Medicine and University Hospital Cologne, Kerpener Str. 34, 50931, Cologne, Germany., Paul VG; Institute for Human Genetics, University Hospital Muenster, Muenster, Germany., Honisch E; Department of Gynaecology and Obstetrics, University Hospital Duesseldorf, Heinrich-Heine University Duesseldorf, Duesseldorf, Germany., Klaschik K; Center for Hereditary Breast and Ovarian Cancer, Center for Integrated Oncology (CIO), University of Cologne, Faculty of Medicine and University Hospital Cologne, Kerpener Str. 34, 50931, Cologne, Germany., Volk AE; Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, Hamburg, Germany., Kubisch C; Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, Hamburg, Germany., Rapp S; Preventive Cardiology and Preventive Medicine, Center for Cardiology, University Medical Center of the Johannes Gutenberg-University Mainz, Mainz, Germany., Lichey N; Institute for Human Genetics, University Hospital Muenster, Muenster, Germany., Altmüller J; Cologne Center for Genomics, University of Cologne, Cologne, Germany.; Center for Molecular Medicine Cologne (CMMC), University of Cologne, Cologne, Germany., Lepkes L; Center for Hereditary Breast and Ovarian Cancer, Center for Integrated Oncology (CIO), University of Cologne, Faculty of Medicine and University Hospital Cologne, Kerpener Str. 34, 50931, Cologne, Germany., Pohl-Rescigno E; Center for Hereditary Breast and Ovarian Cancer, Center for Integrated Oncology (CIO), University of Cologne, Faculty of Medicine and University Hospital Cologne, Kerpener Str. 34, 50931, Cologne, Germany., Thiele H; Cologne Center for Genomics, University of Cologne, Cologne, Germany., Nürnberg P; Cologne Center for Genomics, University of Cologne, Cologne, Germany.; Center for Molecular Medicine Cologne (CMMC), University of Cologne, Cologne, Germany., Larsen M; Center for Hereditary Breast and Ovarian Cancer, Center for Integrated Oncology (CIO), University of Cologne, Faculty of Medicine and University Hospital Cologne, Kerpener Str. 34, 50931, Cologne, Germany., Richters L; Center for Hereditary Breast and Ovarian Cancer, Center for Integrated Oncology (CIO), University of Cologne, Faculty of Medicine and University Hospital Cologne, Kerpener Str. 34, 50931, Cologne, Germany., Rhiem K; Center for Hereditary Breast and Ovarian Cancer, Center for Integrated Oncology (CIO), University of Cologne, Faculty of Medicine and University Hospital Cologne, Kerpener Str. 34, 50931, Cologne, Germany., Wappenschmidt B; Center for Hereditary Breast and Ovarian Cancer, Center for Integrated Oncology (CIO), University of Cologne, Faculty of Medicine and University Hospital Cologne, Kerpener Str. 34, 50931, Cologne, Germany., Engel C; Institute for Medical Informatics, Statistics and Epidemiology, University of Leipzig, Leipzig, Germany.; LIFE Leipzig Research Centre for Civilization Diseases, University of Leipzig, Leipzig, Germany., Meindl A; Department of Gynaecology and Obstetrics, University of Munich, Campus Großhadern, Munich, Germany., Schmutzler RK; Center for Hereditary Breast and Ovarian Cancer, Center for Integrated Oncology (CIO), University of Cologne, Faculty of Medicine and University Hospital Cologne, Kerpener Str. 34, 50931, Cologne, Germany., Hahnen E; Center for Hereditary Breast and Ovarian Cancer, Center for Integrated Oncology (CIO), University of Cologne, Faculty of Medicine and University Hospital Cologne, Kerpener Str. 34, 50931, Cologne, Germany. eric.hahnen@uk-koeln.de., Hauke J; Center for Hereditary Breast and Ovarian Cancer, Center for Integrated Oncology (CIO), University of Cologne, Faculty of Medicine and University Hospital Cologne, Kerpener Str. 34, 50931, Cologne, Germany.

Publikováno v: Breast cancer research : BCR [Breast Cancer Res] 2019 Apr 29; Vol. 21 (1), pp. 55. Date of Electronic Publication: 2019 Apr 29.

Diagnosis of Li-Fraumeni Syndrome: Differentiating TP53 germline mutations from clonal hematopoiesis: Results of the observational AGO-TR1 trial.

Autor: Weber-Lassalle K; Center for Hereditary Breast and Ovarian Cancer, Center for Integrated Oncology (CIO), Medical Faculty, University Hospital Cologne, Cologne, Germany., Harter P; Department of Gynecology & Gynecologic Oncology, Kliniken Essen-Mitte, Essen, Germany., Hauke J; Center for Hereditary Breast and Ovarian Cancer, Center for Integrated Oncology (CIO), Medical Faculty, University Hospital Cologne, Cologne, Germany., Ernst C; Center for Hereditary Breast and Ovarian Cancer, Center for Integrated Oncology (CIO), Medical Faculty, University Hospital Cologne, Cologne, Germany., Kommoss S; Department of Women's Health, Tübingen University Hospital, Tübingen, Germany., Marmé F; Department of Gynecologic Oncology, National Center for Tumor Diseases, University Hospital Heidelberg, Heidelberg, Germany., Weber-Lassalle N; Center for Hereditary Breast and Ovarian Cancer, Center for Integrated Oncology (CIO), Medical Faculty, University Hospital Cologne, Cologne, Germany., Prieske K; Department of Obstetrics and Gynecology, National Center for Tumor Diseases, University Hospital Heidelberg, Heidelberg, Germany.; Department of Gynecology and Gynecologic Oncology, University Medical Center Hamburg-Eppendorf, Hamburg, Germany., Dietrich D; Department of Otolaryngology, Head and Neck Surgery, University Hospital Bonn, Bonn, Germany., Borde J; Center for Hereditary Breast and Ovarian Cancer, Center for Integrated Oncology (CIO), Medical Faculty, University Hospital Cologne, Cologne, Germany., Pohl-Rescigno E; Center for Hereditary Breast and Ovarian Cancer, Center for Integrated Oncology (CIO), Medical Faculty, University Hospital Cologne, Cologne, Germany., Reuss A; Coordinating Center for Clinical Trials, Philipps-University of Marburg, Marburg, Germany., Ataseven B; Department of Gynecology & Gynecologic Oncology, Kliniken Essen-Mitte, Essen, Germany.; Department of Obstetrics and Gynecology, University Hospital, LMU Munich, Germany., Engel C; Institute for Medical Informatics, Statistics and Epidemiology, University of Leipzig, Leipzig, Germany.; LIFE-Leipzig Research Centre for Civilization Diseases, University of Leipzig, Leipzig, Germany., Stingl JC; Research Division, Federal Institute for Drugs & Medical Devices, Bonn, Germany., Schmutzler RK; Center for Hereditary Breast and Ovarian Cancer, Center for Integrated Oncology (CIO), Medical Faculty, University Hospital Cologne, Cologne, Germany., Hahnen E; Center for Hereditary Breast and Ovarian Cancer, Center for Integrated Oncology (CIO), Medical Faculty, University Hospital Cologne, Cologne, Germany.

Publikováno v: Human mutation [Hum Mutat] 2018 Dec; Vol. 39 (12), pp. 2040-2046. Date of Electronic Publication: 2018 Oct 03.

Gene panel testing of 5589 BRCA1/2-negative index patients with breast cancer in a routine diagnostic setting: results of the German Consortium for Hereditary Breast and Ovarian Cancer.

Autor: Hauke J; Center for Hereditary Breast and Ovarian Cancer, Center for Integrated Oncology (CIO), Medical Faculty, University Hospital Cologne, Cologne, Germany., Horvath J; Institute for Human Genetics, University Hospital Muenster, Muenster, Germany., Groß E; Department of Gynaecology and Obstetrics, Division of Tumor Genetics, Klinikum rechts der Isar, Technical University Munich, Munich, Germany., Gehrig A; Institute of Human Genetics, Julius-Maximilians-Universität Würzburg, Würzburg, Germany., Honisch E; Department of Gynaecology and Obstetrics, University Hospital Duesseldorf, Heinrich-Heine University Duesseldorf, Duesseldorf, Germany., Hackmann K; Institute for Clinical Genetics, Technische Universitaet Dresden, Dresden, Germany., Schmidt G; Department of Human Genetics, Hannover Medical School, Hannover, Germany., Arnold N; Department of Gynaecology and Obstetrics, Institute of Clinical Molecular Biology, University Hospital of Schleswig-Holstein, Campus Kiel, Christian-Albrechts University Kiel, Kiel, Germany., Faust U; Institute of Medical Genetics and Applied Genomics, University Hospital Tuebingen, Tuebingen, Germany., Sutter C; Institute of Human Genetics, University of Heidelberg, Heidelberg, Germany., Hentschel J; Institute of Human Genetics, University of Leipzig Hospitals and Clinics, Leipzig, Germany., Wang-Gohrke S; Department of Gynaecology and Obstetrics, University Hospital Ulm, Ulm, Germany., Smogavec M; Institute of Human Genetics, University Medical Center, Georg August University, Goettingen, Germany., Weber BHF; Institute of Human Genetics, University of Regensburg, Regensburg, Germany., Weber-Lassalle N; Center for Hereditary Breast and Ovarian Cancer, Center for Integrated Oncology (CIO), Medical Faculty, University Hospital Cologne, Cologne, Germany., Weber-Lassalle K; Center for Hereditary Breast and Ovarian Cancer, Center for Integrated Oncology (CIO), Medical Faculty, University Hospital Cologne, Cologne, Germany., Borde J; Center for Hereditary Breast and Ovarian Cancer, Center for Integrated Oncology (CIO), Medical Faculty, University Hospital Cologne, Cologne, Germany., Ernst C; Center for Hereditary Breast and Ovarian Cancer, Center for Integrated Oncology (CIO), Medical Faculty, University Hospital Cologne, Cologne, Germany., Altmüller J; Cologne Center for Genomics, University of Cologne, Cologne, Germany.; Institute of Human Genetics, University of Cologne, Cologne, Germany.; Cologne Excellence Cluster on Cellular Stress Responses in Aging-Associated Diseases (CECAD), University of Cologne, Cologne, Germany., Volk AE; Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, Hamburg, Germany., Thiele H; Cologne Center for Genomics, University of Cologne, Cologne, Germany.; Institute of Human Genetics, University of Cologne, Cologne, Germany.; Cologne Excellence Cluster on Cellular Stress Responses in Aging-Associated Diseases (CECAD), University of Cologne, Cologne, Germany., Hübbel V; Center for Hereditary Breast and Ovarian Cancer, Center for Integrated Oncology (CIO), Medical Faculty, University Hospital Cologne, Cologne, Germany., Nürnberg P; Cologne Center for Genomics, University of Cologne, Cologne, Germany.; Institute of Human Genetics, University of Cologne, Cologne, Germany.; Cologne Excellence Cluster on Cellular Stress Responses in Aging-Associated Diseases (CECAD), University of Cologne, Cologne, Germany., Keupp K; Center for Hereditary Breast and Ovarian Cancer, Center for Integrated Oncology (CIO), Medical Faculty, University Hospital Cologne, Cologne, Germany., Versmold B; Center for Hereditary Breast and Ovarian Cancer, Center for Integrated Oncology (CIO), Medical Faculty, University Hospital Cologne, Cologne, Germany., Pohl E; Center for Hereditary Breast and Ovarian Cancer, Center for Integrated Oncology (CIO), Medical Faculty, University Hospital Cologne, Cologne, Germany., Kubisch C; Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, Hamburg, Germany., Grill S; Department of Gynaecology and Obstetrics, Division of Tumor Genetics, Klinikum rechts der Isar, Technical University Munich, Munich, Germany., Paul V; Institute for Human Genetics, University Hospital Muenster, Muenster, Germany., Herold N; Center for Hereditary Breast and Ovarian Cancer, Center for Integrated Oncology (CIO), Medical Faculty, University Hospital Cologne, Cologne, Germany., Lichey N; Institute for Human Genetics, University Hospital Muenster, Muenster, Germany., Rhiem K; Center for Hereditary Breast and Ovarian Cancer, Center for Integrated Oncology (CIO), Medical Faculty, University Hospital Cologne, Cologne, Germany., Ditsch N; Department of Obstetrics and Gynaecology, Ludwig-Maximilians-University of Munich, Munich, Germany., Ruckert C; Institute for Human Genetics, University Hospital Muenster, Muenster, Germany., Wappenschmidt B; Center for Hereditary Breast and Ovarian Cancer, Center for Integrated Oncology (CIO), Medical Faculty, University Hospital Cologne, Cologne, Germany., Auber B; Department of Human Genetics, Hannover Medical School, Hannover, Germany., Rump A; Institute for Clinical Genetics, Technische Universitaet Dresden, Dresden, Germany., Niederacher D; Department of Gynaecology and Obstetrics, University Hospital Duesseldorf, Heinrich-Heine University Duesseldorf, Duesseldorf, Germany., Haaf T; Institute of Human Genetics, Julius-Maximilians-Universität Würzburg, Würzburg, Germany., Ramser J; Department of Gynaecology and Obstetrics, Division of Tumor Genetics, Klinikum rechts der Isar, Technical University Munich, Munich, Germany., Dworniczak B; Institute for Human Genetics, University Hospital Muenster, Muenster, Germany., Engel C; Institute for Medical Informatics, Statistics and Epidemiology, University of Leipzig, Leipzig, Germany.; LIFE-Leipzig Research Centre for Civilization Diseases, University of Leipzig, Leipzig, Germany., Meindl A; Department of Gynaecology and Obstetrics, Division of Tumor Genetics, Klinikum rechts der Isar, Technical University Munich, Munich, Germany., Schmutzler RK; Center for Hereditary Breast and Ovarian Cancer, Center for Integrated Oncology (CIO), Medical Faculty, University Hospital Cologne, Cologne, Germany., Hahnen E; Center for Hereditary Breast and Ovarian Cancer, Center for Integrated Oncology (CIO), Medical Faculty, University Hospital Cologne, Cologne, Germany.

Publikováno v: Cancer medicine [Cancer Med] 2018 Apr; Vol. 7 (4), pp. 1349-1358. Date of Electronic Publication: 2018 Mar 09.