Table of Contents Author Guidelines Submit a Manuscript
Anemia
Volume 2012, Article ID 132856, 7 pages
http://dx.doi.org/10.1155/2012/132856
Research Article

Diagnosis of Fanconi Anemia: Mutation Analysis by Next-Generation Sequencing

1Department of Clinical Genetics, VU University Medical Center, Van der Boechorststraat 7, 1081 BT Amsterdam, The Netherlands
2Department of Pathology, VU University Medical Center, De Boelelaan 1117, 1081 HV Amsterdam, The Netherlands
3Leiden Genome Technology Center, Center for Human and Clinical Genetics, Leiden University Medical Center, Einthovenweg 20, 2333 ZC Leiden, The Netherlands

Received 23 December 2011; Accepted 21 March 2012

Academic Editor: Stefan Meyer

Copyright © 2012 Najim Ameziane et al. This is an open access article distributed under the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.

Linked References

  1. A. J. Deans and S. C. West, “DNA interstrand crosslink repair and cancer,” Nature Reviews Cancer, vol. 11, no. 7, pp. 467–480, 2011. View at Publisher · View at Google Scholar · View at Scopus
  2. W. Wang, “Emergence of a DNA-damage response network consisting of Fanconi anaemia and BRCA proteins,” Nature Reviews Genetics, vol. 8, no. 10, pp. 735–748, 2007. View at Publisher · View at Google Scholar · View at Scopus
  3. K. V. Voelkerding, S. A. Dames, and J. D. Durtschi, “Next-generation sequencing: from basic research to diagnostics,” Clinical Chemistry, vol. 55, no. 4, pp. 641–658, 2009. View at Publisher · View at Google Scholar · View at Scopus
  4. N. Ameziane, A. Errami, F. Leveille et al., “Genetic subtyping of Fanconi anemia by comprehensive mutation screening,” Human Mutation, vol. 29, no. 1, pp. 159–166, 2008. View at Publisher · View at Google Scholar · View at Scopus
  5. M. Castella, R. Pujol, E. Callen et al., “Origin, functional role, and clinical impact of Fanconi anemia FANCA mutations,” Blood, vol. 117, pp. 3759–3769, 2011. View at Google Scholar
  6. B. Xia, J. C. Dorsman, N. Ameziane et al., “Fanconi anemia is associated with a defect in the BRCA2 partner PALB2,” Nature Genetics, vol. 39, no. 2, pp. 159–161, 2007. View at Publisher · View at Google Scholar · View at Scopus
  7. S. V. Tavtigian, A. M. Deffenbaugh, L. Yin et al., “Comprehensive statistical study of 452 BRCA1 missense substitutions with classification of eight recurrent substitutions as neutral,” Journal of Medical Genetics, vol. 43, no. 4, pp. 295–305, 2006. View at Publisher · View at Google Scholar · View at Scopus
  8. I. A. Adzhubei, S. Schmidt, L. Peshkin et al., “A method and server for predicting damaging missense mutations,” Nature Methods, vol. 7, no. 4, pp. 248–249, 2010. View at Publisher · View at Google Scholar · View at Scopus
  9. P. Kumar, S. Henikoff, and P. C. Ng, “Predicting the effects of coding non-synonymous variants on protein function using the SIFT algorithm,” Nature Protocols, vol. 4, no. 7, pp. 1073–1081, 2009. View at Publisher · View at Google Scholar · View at Scopus
  10. T. Peelen, M. van Vliet, A. Bosch et al., “Screening for BRCA2 mutations in 81 Dutch breast-ovarian cancer families,” British Journal of Cancer, vol. 82, no. 1, pp. 151–156, 2000. View at Google Scholar · View at Scopus
  11. N. G. Howlett, T. Taniguchi, S. Olson et al., “Biallelic inactivation of BRCA2 in Fanconi anemia,” Science, vol. 297, no. 5581, pp. 606–609, 2002. View at Publisher · View at Google Scholar · View at Scopus
  12. C. Timmers, T. Taniguchi, J. Hejna et al., “Positional cloning of a novel Fanconi anemia gene, FANCD2,” Molecular Cell, vol. 7, no. 2, pp. 241–248, 2001. View at Publisher · View at Google Scholar · View at Scopus
  13. R. Kalb, K. Neveling, H. Hoehn et al., “Hypomorphic mutations in the gene encoding a key Fanconi anemia protein, FANCD2, sustain a significant group of FA-D2 patients with severe phenotype,” American Journal of Human Genetics, vol. 80, no. 5, pp. 895–910, 2007. View at Publisher · View at Google Scholar · View at Scopus
  14. H. Li and R. Durbin, “Fast and accurate short read alignment with Burrows-Wheeler transform,” Bioinformatics, vol. 25, no. 14, pp. 1754–1760, 2009. View at Publisher · View at Google Scholar · View at Scopus
  15. H. Li, B. Handsaker, A. Wysoker et al., “The sequence alignment/map format and SAMtools,” Bioinformatics, vol. 25, no. 16, pp. 2078–2079, 2009. View at Publisher · View at Google Scholar · View at Scopus
  16. D. C. Koboldt, K. Chen, T. Wylie et al., “VarScan: variant detection in massively parallel sequencing of individual and pooled samples,” Bioinformatics, vol. 25, no. 17, pp. 2283–2285, 2009. View at Publisher · View at Google Scholar · View at Scopus
  17. K. Wang, M. Li, and H. Hakonarson, “ANNOVAR: functional annotation of genetic variants from high-throughput sequencing data,” Nucleic Acids Research, vol. 38, no. 16, article e164, Article ID gkq603, 2010. View at Publisher · View at Google Scholar · View at Scopus