Biallelic mutations in PALB2 cause Fanconi anemia subtype FA-N and predispose to childhood cancer (original) (raw)

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Acknowledgements

We would like to thank all the families with Fanconi anemia for cooperating in this study and the many physicians that have referred families for participation in the research. In particular, we thank the doctors and counselors who provided samples and information from the FA-N cases, including R. Beier, T. Brenn, R.C. Lewandowski, M. Hamre, R.E. Harris, A. Carlson, V.M. Der Kaloustian, N. Wong and M. Buyukpamukcu. We thank B. Xia and D. Livingston for the PALB2 antibody and the pOZC-PALB2 vector; K. Spanova and S. Fielding for technical assistance with PALB2 sequencing; R. Friedl, B. Gottwald and S. Furlan for the flow cytometry analyses and handling of patients' cells and M. Stratton, A. Futreal and R. Scott for comments on the manuscript. We acknowledge use of controls from the British 1958 Birth Cohort DNA collection, funded by the Medical Research Council grant G0000934 and the Wellcome Trust grant 068545/Z/02. This work forms part of the UK Childrens' Cancer and Leukaemia Group's FACT (Factors Associated with Childhood Tumours) Study. The work was supported in part by the following: R37HL32987 and R01CA82678 from the US National Institutes of Health (A.D.A.); the Daniel Ayling Fanconi Anaemia Trust (C.G.M.); the Deutsche Fanconi-Anamie-Hilfe e V., Schroeder-Kurth-Fond and the Fanconi Anemia Research Fund (D.S., H.H.); the Deutsche Forschungsgemeinschaft and Elterninitiative Kinderkrebsklinik Duesseldorf e. V. (H.H.); the Jewish General Hospital Weekend to End Breast Cancer, Rethink Breast Cancer, Canada and Canadian Foundation for Innovation (M.T.); the Breast Cancer Campaign (P.K.) and, primarily, the Institute of Cancer Research and Cancer Research UK (S.R., S.H., K.B., S.S., N.R.).

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Authors and Affiliations

  1. Section of Cancer Genetics, Institute of Cancer Research, Sutton, SM2 5NG, Surrey, UK
    Sarah Reid, Karen Barker, Sandra Hanks, Patrick Kelly, Sheila Seal & Nazneen Rahman
  2. Department of Human Genetics, University of Wuerzburg, Wuerzburg, D-97074, Germany
    Detlev Schindler, Reinhard Kalb & Kornelia Neveling
  3. Department of Pediatric Oncology, Hematology and Immunology, Heinrich Heine University, Duesseldorf, D-40225, Germany
    Helmut Hanenberg, Marcel Freund & Melanie Wurm
  4. Herman B. Wells Center for Pediatric Research, Indiana University School of Medicine, Indianapolis, 46202, Indiana, USA
    Helmut Hanenberg
  5. Laboratory of Human Genetics and Hematology, The Rockefeller University, 1230 York Ave., New York, 10021, New York, USA
    Sat Dev Batish, Francis P Lach & Arleen D Auerbach
  6. Department of Pathology and Laboratory Medicine, Weill Medical College of Cornell University, New York, 10021, New York, USA
    Sat Dev Batish
  7. Division of Pediatric Hematology, Hacettepe University, Ihsan Dooramacy Children Hospital, Ankara, 06100, Turkey
    Sevgi Yetgin
  8. Department of Human Genetics Charité-Universitaetsmedizin, Berlin, D-13353, Germany
    Heidemarie Neitzel
  9. Paediatric Haematology-Oncology Unit, University of Malaya Medical Centre, Kuala Lumpur, Malaysia
    Hany Ariffin
  10. Cancer Prevention Center, The Sir Mortimer B. Davis Jewish General Hospital, Montreal, H3T 1E2, Quebec, Canada
    Marc Tischkowitz
  11. Departments of Oncology and Human Genetics, Program in Cancer Genetics, McGill University, Montreal, H3A 1B1, Quebec, Canada
    Marc Tischkowitz
  12. Department of Medical and Molecular Genetics, Kings College London School of Medicine, Guy's Hospital, London, SE1 9RT, UK
    Christopher G Mathew

Authors

  1. Sarah Reid
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  2. Detlev Schindler
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  3. Helmut Hanenberg
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  4. Karen Barker
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  5. Sandra Hanks
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  6. Reinhard Kalb
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  7. Kornelia Neveling
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  8. Patrick Kelly
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  9. Sheila Seal
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  10. Marcel Freund
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  11. Melanie Wurm
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  12. Sat Dev Batish
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  13. Francis P Lach
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  14. Sevgi Yetgin
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  15. Heidemarie Neitzel
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  16. Hany Ariffin
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  17. Marc Tischkowitz
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  18. Christopher G Mathew
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  19. Arleen D Auerbach
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  20. Nazneen Rahman
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Contributions

The study was designed by N.R. The mutational and PALB2 protein blot analyses were performed by S.S., K.B., S.H., P.K. and S.S. under the direction of N.R. The cellular, protein blot and complementation analyses and investigation of effects of splicing mutations were performed by D.S., H.H., R.K., K.N., M.F., M.W. and H.N. The phenotypic assessment, sample collection and characterization with respect to Fanconi anemia subgroups was performed by D.S., H.H., S.D.B., F.P.L., S.Y., H.A., M.T., C.G.M. and A.D.A. The manuscript was written by N.R with contributions from the other authors.

Corresponding author

Correspondence toNazneen Rahman.

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The authors declare no competing financial interests.

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Reid, S., Schindler, D., Hanenberg, H. et al. Biallelic mutations in PALB2 cause Fanconi anemia subtype FA-N and predispose to childhood cancer.Nat Genet 39, 162–164 (2007). https://doi.org/10.1038/ng1947

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