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

Paul A. James, Bronwyn Culling, Glenda Mullan, Mark Jenkins, George Elakis, Anne M. Turner, David M. Mowat, Meredith Wilson, Peter Anderson, Ravi Savarirayan, Simon T. Cliffe, Melody Caramins, Michael F. Buckley, Kathy Tucker, Tony Roscioli

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4 Citations (Scopus)


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.

Original languageEnglish
Pages (from-to)533-538
Number of pages6
JournalGenes Chromosomes and Cancer
Issue number7
Publication statusPublished or Issued - 1 Jul 2009
Externally publishedYes

ASJC Scopus subject areas

  • Genetics
  • Cancer Research

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