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Breast cancer risk is not increased in individuals with TWIST1 mutation confirmed Saethre–Chotzen syndrome: An Australian multicenter study
Author(s) -
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
Publication year - 2009
Publication title -
genes, chromosomes and cancer
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.754
H-Index - 119
eISSN - 1098-2264
pISSN - 1045-2257
DOI - 10.1002/gcc.20661
Subject(s) - medicine , breast cancer , craniofacial , craniosynostosis , cancer , pediatrics , oncology , surgery , psychiatry
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.