BMC Cancer

official impact factor 3.15

Open Access Research article

A simple method for co-segregation analysis to evaluate the pathogenicity of unclassified variants; BRCA1 and BRCA2 as an example

Leila Mohammadi1, Maaike P Vreeswijk2, Rogier Oldenburg4, Ans van den Ouweland4, Jan C Oosterwijk5, Annemarie H van der Hout5, Nicoline Hoogerbrugge6, Marjolijn Ligtenberg6, Margreet G Ausems7, Rob B van der Luijt7, Charlotte J Dommering8, Johan J Gille8, Senno Verhoef9, Frans B Hogervorst9, Theo A van Os10, Encarna Gómez García11,12, Marinus J Blok12, Juul T Wijnen2, Quinta Helmer1, Peter Devilee2,3, Christi J van Asperen2* and Hans C van Houwelingen1

  • * Corresponding author: Christi J van Asperen asperen@lumc.nl

  • † Equal contributors

Author Affiliations

1 Department of Medical Statistics and Bioinformatics, Leiden University Medical Center, Leiden, The Netherlands

2 Center for Human and Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands

3 Department of Pathology, Leiden University Medical Center, Leiden, The Netherlands

4 Department of Clinical Genetics, Erasmus Medical Center, Rotterdam, The Netherlands

5 Department of Genetics, University Medical Center, Groningen University, Groningen, The Netherlands

6 Department of Human Genetics, Radboud University Nijmegen Medical Center, Nijmegen, The Netherlands

7 Department of Medical Genetics, University Medical Center Utrecht, Utrecht, The Netherlands

8 Department of Clinical Genetics, VU University Medical Center, Amsterdam, The Netherlands

9 Family Cancer Clinic, Netherlands Cancer Institute, Antoni van Leeuwenhoek Hospital, Amsterdam, The Netherlands

10 Department of Clinical Genetics, Academic Medical Center, Amsterdam, The Netherlands

11 Department of Clinical Genetics, University Medical Center, Maastricht, The Netherlands

12 Department of Genetics and Cell Biology, University Medical Center, Maastricht, The Netherlands

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BMC Cancer 2009, 9:211 doi:10.1186/1471-2407-9-211

Published: 29 June 2009

Additional files

Additional file 1:

Additional Tables and Figures Mohammadi. This file contains additional tables 1–3 and additional figures 1–5.

Format: PDF Size: 282KB Download file

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Additional file 2:

Instruction method Mohammadi. This document contains a description on the use of the co-segregation analysis website with detailed instruction on the preparation of the input file that contains the pedigree information.

Format: PDF Size: 199KB Download file

This file can be viewed with: Adobe Acrobat Reader

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