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Germline mutation screening of the Saethre-Chotzen-associated genes TWIST1 and FGFR3 in families with BRCA1/2-negative breast cancer
Lundberg Laboratory for Cancer Research, Department of Pathology, The Sahlgrenska Academy at the University of Gothenburg, Sahlgrenska University Hospital, Göteborg, Sweden.
Department of Plastic Surgery, The Sahlgrenska Academy at the University of Gothenburg, Sahlgrenska University Hospital, Göteborg, Sweden.
Oncology Center, Umeå University Hospital, Umeå, Sweden.
Department of Clinical Genetics, The Sahlgrenska Academy at the University of Gothenburg, Sahlgrenska University Hospital, Göteborg, Sweden.
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2009 (English)In: Scandinavian Journal of Plastic and Reconstructive Surgery and Hand Surgery, ISSN 0284-4311, E-ISSN 1651-2073, Vol. 43, no 5, p. 251-255Article in journal (Refereed) Published
Abstract [en]

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.

Place, publisher, year, edition, pages
Taylor & Francis, 2009. Vol. 43, no 5, p. 251-255
Keywords [en]
BRCA1, BRCA2, FGFR2, FGFR3, Hereditary breast cancer, Saethre-Chotzen syndrome, TWIST1, ALX4 protein, human, DNA binding protein, EFNB1 protein, human, ephrin B1, FGFR1 protein, human, FGFR2 protein, human, FGFR3 protein, human, FGFR4 protein, human, fibroblast growth factor receptor 1, fibroblast growth factor receptor 2, fibroblast growth factor receptor 3, fibroblast growth factor receptor 4, homeodomain protein, nuclear protein, RUNX2 protein, human, transcription factor, transcription factor MSX2, transcription factor RUNX2, transcription factor Twist, TWIST1 protein, human, acrocephalosyndactyly, adult, article, breast tumor, DNA sequence, female, genetic screening, genetics, human, middle aged, mutation, polymerase chain reaction, tumor suppressor gene, Acrocephalosyndactylia, Breast Neoplasms, Core Binding Factor Alpha 1 Subunit, DNA-Binding Proteins, Ephrin-B1, Genes, BRCA1, Genes, BRCA2, Genetic Testing, Germ-Line Mutation, Homeodomain Proteins, Humans, Nuclear Proteins, Receptor, Fibroblast Growth Factor, Type 1, Receptor, Fibroblast Growth Factor, Type 2, Receptor, Fibroblast Growth Factor, Type 3, Receptor, Fibroblast Growth Factor, Type 4, Sequence Analysis, DNA, Transcription Factors, Twist Transcription Factor
National Category
Surgery Cancer and Oncology
Identifiers
URN: urn:nbn:se:hj:diva-39619DOI: 10.3109/02844310903247228ISI: 000272145200003PubMedID: 19863427Scopus ID: 2-s2.0-77949564227OAI: oai:DiVA.org:hj-39619DiVA, id: diva2:1212032
Available from: 2018-06-01 Created: 2018-06-01 Last updated: 2018-06-01Bibliographically approved

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