Saethre-Chotzen syndrome is one of the most common craniosynostosis syndromes. 
It is an autosomal dominantly inherited disorder with variable expression that 
is caused by germline mutations in the TWIST1 gene or more rarely in the FGFR2 
or FGFR3 genes. We have previously reported that patients with Saethre-Chotzen 
syndrome have an increased risk of developing breast cancer. Here we have 
analysed a cohort of 26 women with BRCA1/2-negative hereditary breast cancer to 
study whether a proportion of these families might have mutations in 
Saethre-Chotzen-associated genes. DNA sequence analysis of TWIST1 showed no 
pathogenic mutations in the coding sequence in any of the 26 patients. MLPA 
(multiplex ligation-dependent probe amplification)-analysis also showed no 
alterations in copy numbers in any of the craniofacial disorder genes MSX2, 
ALX4, RUNX2, EFNB1, TWIST1, FGFR1, FGFR2,FGFR3, or FGFR4. Taken together, our 
findings indicate that mutations in Saethre-Chotzen-associated genes are 
uncommon or absent in BRCA1/2-negative patients with hereditary breast cancer.