Comprehensive Mutation Analysis ofPMS2in a Large Cohort of Probands Suspected of Lynch Syndrome or Constitutional Mismatch Repair Deficiency Syndrome-Reference-Cited by-同舟云学术

Comprehensive Mutation Analysis ofPMS2in a Large Cohort of Probands Suspected of Lynch Syndrome or Constitutional Mismatch Repair Deficiency Syndrome

Published:2016-08-21 Issue:11 Volume:37 Page:1162-1179
ISSN:1059-7794
Container-title:Human Mutation
language:en
Short-container-title:Human Mutation

Author:

van der Klift Heleen M.¹²,Mensenkamp Arjen R.³,Drost Mark²,Bik Elsa C.¹,Vos Yvonne J.⁴,Gille Hans J.J.P.⁵,Redeker Bert E.J.W.⁶,Tiersma Yvonne²,Zonneveld José B.M.¹,García Encarna Gómez⁷,Letteboer Tom G.W.⁸,Olderode-Berends Maran J.W.⁴,van Hest Liselotte P.⁵,van Os Theo A.⁶,Verhoef Senno⁹¹⁰,Wagner Anja¹¹,van Asperen Christi J.¹,ten Broeke Sanne W.¹,Hes Frederik J.¹,de Wind Niels²,Nielsen Maartje¹,Devilee Peter²,Ligtenberg Marjolijn J.L.³¹²,Wijnen Juul T.¹²,Tops Carli M.J.¹

Affiliation:

1. Department of Clinical Genetics; Leiden University Medical Centre; Leiden The Netherlands

2. Department of Human Genetics; Leiden University Medical Centre; Leiden The Netherlands

3. Department of Human Genetics; Radboud University Medical Center; Nijmegen The Netherlands

4. Department of Genetics; University of Groningen, University Medical Center Groningen; Groningen The Netherlands

5. Department of Clinical Genetics; VU University Medical Center; Amsterdam The Netherlands

6. Department of Clinical Genetics; Academic Medical Centre; Amsterdam The Netherlands

7. Department of Clinical Genetics; Maastricht University Medical Centre; Maastricht The Netherlands

8. Department of Medical Genetics; University Medical Centre Utrecht; Utrecht The Netherlands

9. Netherlands Cancer Institute; Amsterdam The Netherlands

10. Clinical Genetics Service, Saint Mary's Hospital; Central Manchester University Hospitals NHS Foundation Trust; Manchester United Kingdom

11. Department of Clinical Genetics; Erasmus Medical Centre; Rotterdam The Netherlands

12. Department of Pathology; Radboud University Medical Center; Nijmegen The Netherlands

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1002/humu.23052/fullpdf

Reference58 articles.

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3. Refining the role of PMS2 in Lynch syndrome: germline mutational analysis improved by comprehensive assessment of variants;Borras;J Med Genet,2013

4. High incidence of large deletions in the PMS2 gene in Spanish Lynch syndrome families;Brea-Fernandez;Clin Genet,2014

5. Genomic rearrangements in inherited disease and cancer;Chen;Semin Cancer Biol,2010

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