Breast cancer risk is not increased in individuals with TWIST1 mutation confirmed Saethre-Chotzen syndrome: an Australian multicenter study.
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.
Genetic Health Services Victoria, Murdoch Children's Research Institute, Melbourne, Australia. paul.james@ghsv.org.au
Paul A
PA
James
Bronwyn
B
Culling
Glenda
G
Mullan
Mark
M
Jenkins
George
G
Elakis
Anne M
AM
Turner
David M
DM
Mowat
Meredith
M
Wilson
Peter
P
Anderson
Ravi
R
Savarirayan
Simon T
ST
Cliffe
Melody
M
Caramins
Michael F
MF
Buckley
Kathy
K
Tucker
Tony
T
Roscioli
D000168:Acrocephalosyndactylia / Q000235:genetics*; D000293:Adolescent; D000328:Adult; D000368:Aged; D001315:Australia; D001943:Breast Neoplasms / Q000235:genetics*; D002648:Child; D002675:Child, Preschool; D015331:Cohort Studies; D004252:DNA Mutational Analysis; D005260:Female; D020022:Genetic Predisposition to Disease; D006801:Humans; D008297:Male; D008875:Middle Aged; D009687:Nuclear Proteins / Q000235:genetics*; D016012:Poisson Distribution; D051879:Twist-Related Protein 1 / Q000235:genetics*
D009687:Nuclear Proteins; C103173:TWIST1 protein, human; D051879:Twist-Related Protein 1