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Germline mutation screening of the Saethre-Chotzen-associated genes TWIST1 and FGFR3 in families with BRCA1/2-negative breast cancer.

Journal article
Authors Annika Bergman
Pelle Sahlin
Monica Emanuelsson
Helena Carén
Peter Tarnow
Tommy Martinsson
Henrik Grönberg
Göran Stenman
Published in Scandinavian journal of plastic and reconstructive surgery and hand surgery / Nordisk plastikkirurgisk forening [and] Nordisk klubb for handkirurgi
Volume 43
Issue 5
Pages 251-5
ISSN 1651-2073
Publication year 2009
Published at Institute of Biomedicine, Department of Medical and Clinical Genetics
Institute of Biomedicine, Department of Pathology
Institute of Clinical Sciences, Department of Plastic Surgery
Institute of Clinical Sciences
Pages 251-5
Language en
Keywords Acrocephalosyndactylia, epidemiology, genetics, Adult, Breast Neoplasms, epidemiology, genetics, Core Binding Factor Alpha 1 Subunit, genetics, DNA-Binding Proteins, genetics, Ephrin-B1, genetics, Female, Genes, BRCA1, Genes, BRCA2, Genetic Testing, Germ-Line Mutation, Homeodomain Proteins, genetics, Humans, Middle Aged, Nuclear Proteins, genetics, Polymerase Chain Reaction, Receptor, Fibroblast Growth Factor, Type 1, genetics, Receptor, Fibroblast Growth Factor, Type 2, genetics, Receptor, Fibroblast Growth Factor, Type 3, genetics, Receptor, Fibroblast Growth Factor, Type 4, genetics, Sequence Analysis, DNA, Transcription Factors, genetics, Twist Transcription Factor, genetics
Subject categories Molecular medicine


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.

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