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

Full 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.

Author information

Author/s: James, Paul A (PA); Culling, Bronwyn (B); Mullan, Glenda (G); Jenkins, Mark (M); Elakis, George (G); Turner, Anne M (AM); Mowat, David M (DM); Wilson, Meredith (M); Anderson, Peter (P); Savarirayan, Ravi (R); Cliffe, Simon T (ST); Caramins, Melody (M); Buckley, Michael F (MF); Tucker, Kathy (K); Roscioli, Tony (T);

Affiliation: Genetic Health Services Victoria, Murdoch Children's Research Institute, Melbourne, Australia. paul.james(-atsign-)ghsv.org.au

Journal and publication information

Publication Type: Journal Article; Multicenter Study

Journal: Genes, chromosomes & cancer (Genes Chromosomes Cancer), published in United States. (Language: eng)

Reference: 2009-Jul; vol 48 (issue 7) : pp 533-8

Dates: Created 2009/06/15; Completed 2009/10/19;

PMID: 19373776, status: MEDLINE (last retrieval date: 10/19/2009, IMS Date: )

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