Copy number variation analysis and targeted NGS in 77 families with suspected Lynch syndrome reveals novel potential causative genes-Reference-Cited by-同舟云学术

Copy number variation analysis and targeted NGS in 77 families with suspected Lynch syndrome reveals novel potential causative genes

Published:2018-10-03 Issue:11 Volume:143 Page:2800-2813
ISSN:0020-7136
Container-title:International Journal of Cancer
language:en
Short-container-title:Int. J. Cancer

Author:

Kayser Katrin¹,Degenhardt Franziska¹²,Holzapfel Stefanie¹³,Horpaopan Sukanya¹⁴,Peters Sophia¹²,Spier Isabel¹³,Morak Monika⁵⁶,Vangala Deepak⁷,Rahner Nils⁸,von Knebel-Doeberitz Magnus⁹¹⁰,Schackert Hans K.¹¹,Engel Christoph¹²,Büttner Reinhard¹³,Wijnen Juul¹⁴,Doerks Tobias¹⁵,Bork Peer¹⁵,Moebus Susanne¹⁶,Herms Stefan²¹⁷¹⁸,Fischer Sascha¹⁷,Hoffmann Per¹²¹⁷¹⁸,Aretz Stefan¹³,Steinke-Lange Verena¹⁵⁶

Affiliation:

1. Institute of Human Genetics; University of Bonn; Bonn Germany

2. Department of Genomics; Life and Brain Center, University of Bonn; Bonn Germany

3. Center for Hereditary Tumor Syndromes; University of Bonn; Bonn Germany

4. Department of Anatomy, Faculty of Medical Science; Naresuan University; Phitsanulok Thailand

5. Medizinische Klinik und Poliklinik IV, Campus Innenstadt; Klinikum der Universität München; Munich Germany

6. Medical Genetics Center (MGZ); Munich Germany

7. Department of Internal Medicine, Knappschaftskrankenhaus; Ruhr-University Bochum; Bochum Germany

8. Institute of Human Genetics; University of Düsseldorf; Düsseldorf Germany

9. Department of Applied Tumor Biology; Institute of Pathology, University Hospital of Heidelberg; Heidelberg Germany

10. Cooperation Unit Applied Tumor Biology; German Cancer Research Center (DKFZ); Heidelberg Germany

11. Department of Surgical Research; Technische Universität Dresden; Dresden Germany

12. Institute of Medical Informatics, Statistics, and Epidemiology; University of Leipzig; Leipzig Germany

13. Institute of Pathology; University of Cologne; Cologne Germany

14. Department of Clinical Genetics; Leiden University Medical Center; Leiden The Netherlands

15. Structural and Computational Biology Unit; European Molecular Biology Laboratory (EMBL); Heidelberg Germany

16. Centre for Urban Epidemiology; University Hospital of Duisburg-Essen, University of Duisburg-Essen; Essen Germany

17. Human Genomics Research Group, Department of Biomedicine; University of Basel; Basel Switzerland

18. Insitute of Medical Genetics and Pathology; University Hospital of Basel; Basel Switzerland

Funder

Deutsche Krebshilfe

German Ministry of Education and Science and the German Research Council

Heinz Nixdorf Foundation

Publisher

Wiley

Subject

Cancer Research,Oncology

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1002/ijc.31725/fullpdf

Reference44 articles.

1. Milestones of lynch syndrome: 1895-2015;Lynch;Nat Rev Cancer,2015

2. Revised Bethesda guidelines for hereditary nonpolyposis colorectal cancer (lynch syndrome) and microsatellite instability;Umar;J Natl Cancer Inst,2004

3. Evaluating the performance of clinical criteria for predicting mismatch repair gene mutations in lynch syndrome: a comprehensive analysis of 3,671 families;Steinke;Int J Cancer J Int Cancer,2014

4. Spectrum and frequencies of mutations in MSH2 and MLH1 identified in 1,721 German families suspected of hereditary nonpolyposis colorectal cancer;Mangold;Int J Cancer,2005

5. New clinical criteria for hereditary nonpolyposis colorectal cancer (HNPCC, lynch syndrome) proposed by the international collaborative group on HNPCC;Vasen;Gastroenterology,1999

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