Article
Breast cancer risk is not increased in individuals with TWIST1 mutation confirmed Saethre-Chotzen syndrome: an Australian multicenter study.
Genes, chromosomes & cancer - 1 Jul 2009
James Paul A, Culling Bronwyn, Mullan Glenda, Jenkins Mark, Elakis George, Turner Anne M, Mowat David M, Wilson Meredith, Anderson Peter, Savarirayan Ravi, Cliffe Simon T, Caramins Melody, Buckley Michael F, Tucker Kathy, Roscioli Tony
Abstract excerpt
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...
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