Research Article

Breast cancer risk is not increased in individuals with TWIST1 mutation confirmed Saethre–Chotzen syndrome: An Australian multicenter study

  1. Paul A. James1,*,
  2. Bronwyn Culling2,
  3. Glenda Mullan3,
  4. Mark Jenkins4,
  5. George Elakis3,
  6. Anne M. Turner5,
  7. David M. Mowat5,
  8. Meredith Wilson6,
  9. Peter Anderson7,
  10. Ravi Savarirayan1,
  11. Simon T. Cliffe3,
  12. Melody Caramins3,
  13. Michael F. Buckley3,8,
  14. Kathy Tucker9,
  15. Tony Roscioli2,3,8

Article first published online: 16 APR 2009

DOI: 10.1002/gcc.20661

Issue

Genes, Chromosomes and Cancer

Genes, Chromosomes and Cancer

Volume 48, Issue 7, pages 533–538, July 2009

Additional Information

How to Cite

James, P. A., Culling, B., Mullan, G., Jenkins, M., Elakis, G., Turner, A. M., Mowat, D. M., Wilson, M., Anderson, P., Savarirayan, R., Cliffe, S. T., Caramins, M., Buckley, M. F., Tucker, K. and Roscioli, T. (2009), Breast cancer risk is not increased in individuals with TWIST1 mutation confirmed Saethre–Chotzen syndrome: An Australian multicenter study. Genes, Chromosomes and Cancer, 48: 533–538. doi: 10.1002/gcc.20661

Author Information

  1. 1

    Genetic Health Services Victoria, Murdoch Children's Research Institute, Melbourne, Australia

  2. 2

    Department of Clinical Genetics, Royal Prince Alfred Hospital, Sydney, Australia

  3. 3

    Molecular Genetics Laboratory, South Eastern Area Laboratory Services, Prince of Wales Hospital, Sydney, Australia

  4. 4

    Centre for MEGA Epidemiology, The University of Melbourne, Australia

  5. 5

    Department of Medical Genetics, Sydney Children's Hospital, Sydney, Australia

  6. 6

    Department of Clinical Genetics, Children's Hospital at Westmead, Sydney, Australia

  7. 7

    Australian Craniofacial Unit, Women's and Children's Hospital, Adelaide, Australia

  8. 8

    Centre for Vascular Research, University of New South Wales, Sydney, Australia

  9. 9

    Hereditary Cancer Clinic, Prince of Wales Hospital, Sydney, Australia

*Genetic Health Services Victoria, 10th floor, Royal Children's Hospital, Parkville VIC 3052, Australia

Publication History

  1. Issue published online: 6 MAY 2009
  2. Article first published online: 16 APR 2009
  3. Manuscript Accepted: 25 FEB 2009
  4. Manuscript Received: 9 DEC 2008

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Abstract

Saethre-Chotzen syndrome (SCS) is a rare autosomal dominant syndrome involving craniosynostosis, craniofacial abnormalities, and syndactyly. A recent Scandinavian study reported an increased risk of breast cancer in individuals with a clinical diagnosis of SCS. Because of the potential importance of this finding, we organized a multicenter study enrolling people with TWIST1 mutation confirmed SCS to determine if an increased risk of cancer is present. This study did not identify any cases of breast or ovarian cancer in a cohort of equivalent power to that reported previously. These results provide clinical reassurance that at present there is no evidence for breast cancer screening above standard practice for individuals with SCS. © 2009 Wiley-Liss, Inc.

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