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.
James
Paul A
PA
Genetic Health Services Victoria, Murdoch Children's Research Institute, Melbourne, Australia. paul.james@ghsv.org.au
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
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