Change search
ReferencesLink to record
Permanent link

Direct link
Germline mutation screening of the Saethre-Chotzen-associated genes TWIST1 and FGFR3 in families with BRCA1/2-negative breast cancer.
Umeå University, Faculty of Medicine, Department of Radiation Sciences, Oncology.
Show others and affiliations
2009 (English)In: Scandinavian journal of plastic and reconstructive surgery and hand surgery / Nordisk plastikkirurgisk forening [and] Nordisk klubb for handkirurgi, ISSN 1651-2073, Vol. 43, no 5, 251-255 p.Article 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
2009. Vol. 43, no 5, 251-255 p.
URN: urn:nbn:se:umu:diva-27712PubMedID: 19863427OAI: diva2:277318
Available from: 2009-11-17 Created: 2009-11-17 Last updated: 2011-08-25

Open Access in DiVA

No full text


Search in DiVA

By author/editor
Emanuelsson, Monica
By organisation

Search outside of DiVA

GoogleGoogle Scholar
The number of downloads is the sum of all downloads of full texts. It may include eg previous versions that are now no longer available

Altmetric score

Total: 28 hits
ReferencesLink to record
Permanent link

Direct link