Literature DB >> 17392824

Spectrum of FGFR3 mutations in multiple intraindividual seborrheic keratoses.

Christian Hafner1, Arndt Hartmann, Francisco X Real, Ferdinand Hofstaedter, Michael Landthaler, Thomas Vogt.   

Abstract

Somatic FGFR3 mutations have recently been identified in seborrheic keratoses (SK). Affected individuals often show a large number of SK, but their spectrum of FGFR3 mutations has not been investigated yet. We analyzed 78 SK of four patients using a SNaPshot multiplex assay. FGFR3 mutations were detected in 46 of 78 SK (59%). The mutation rates of the patients ranged from 26 to 89%. Each patient showed at least four different mutated loci. FGFR3 mutations appear to be common genetic alterations in multiple SK with a varying interindividual mutation frequency but without specific intraindividual hot spots.

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Year:  2007        PMID: 17392824     DOI: 10.1038/sj.jid.5700804

Source DB:  PubMed          Journal:  J Invest Dermatol        ISSN: 0022-202X            Impact factor:   8.551


  13 in total

1.  [R248C FGFR3 mutation. Effect on cell growth, apoptosis and attachment in HaCaT keratinocytes].

Authors:  C Hafner; A Hartmann
Journal:  Pathologe       Date:  2010-10       Impact factor: 1.011

2.  Clearance of seborrhoeic keratoses with topical dobesilate.

Authors:  Pedro Cuevas; Javier Angulo; Irene Salgüero; Guillermo Giménez-Gallego
Journal:  BMJ Case Rep       Date:  2012-06-21

3.  Oncogenic PIK3CA mutations occur in epidermal nevi and seborrheic keratoses with a characteristic mutation pattern.

Authors:  Christian Hafner; Elena López-Knowles; Nuno M Luis; Agustí Toll; Eulàlia Baselga; Alex Fernández-Casado; Silvia Hernández; Adriana Ribé; Thomas Mentzel; Robert Stoehr; Ferdinand Hofstaedter; Michael Landthaler; Thomas Vogt; Ramòn M Pujol; Arndt Hartmann; Francisco X Real
Journal:  Proc Natl Acad Sci U S A       Date:  2007-08-02       Impact factor: 11.205

Review 4.  [Genetic basis of seborrheic keratosis and epidermal nevi].

Authors:  C Hafner; H Hafner; L Groesser
Journal:  Pathologe       Date:  2014-09       Impact factor: 1.011

5.  UVA induces lesions resembling seborrheic keratoses in mice with keratinocyte-specific PTEN downregulation.

Authors:  Mei Ming; Christopher R Shea; Li Feng; Keyoumars Soltani; Yu-Ying He
Journal:  J Invest Dermatol       Date:  2011-03-10       Impact factor: 8.551

Review 6.  Paternal age effect mutations and selfish spermatogonial selection: causes and consequences for human disease.

Authors:  Anne Goriely; Andrew O M Wilkie
Journal:  Am J Hum Genet       Date:  2012-02-10       Impact factor: 11.025

Review 7.  Mosaic RASopathies.

Authors:  Christian Hafner; Leopold Groesser
Journal:  Cell Cycle       Date:  2012-12-19       Impact factor: 4.534

8.  Activating FGFR3 mutations cause mild hyperplasia in human skin, but are insufficient to drive benign or malignant skin tumors.

Authors:  Elizabeth K Duperret; Seung Ja Oh; Andrew McNeal; Stephen M Prouty; Todd W Ridky
Journal:  Cell Cycle       Date:  2014-03-12       Impact factor: 4.534

9.  A positive FGFR3/FOXN1 feedback loop underlies benign skin keratosis versus squamous cell carcinoma formation in humans.

Authors:  Anna Mandinova; Vihren Kolev; Victor Neel; Bing Hu; Wesley Stonely; Jocelyn Lieb; Xunwei Wu; Claudia Colli; Rong Han; Michael J Pazin; Mike Pazin; Paola Ostano; Reinhard Dummer; Janice L Brissette; G Paolo Dotto
Journal:  J Clin Invest       Date:  2009-10       Impact factor: 14.808

10.  Activating mutations in FGFR3 and HRAS reveal a shared genetic origin for congenital disorders and testicular tumors.

Authors:  Anne Goriely; Ruth M S Hansen; Indira B Taylor; Inge A Olesen; Grete Krag Jacobsen; Simon J McGowan; Susanne P Pfeifer; Gilean A T McVean; Ewa Rajpert-De Meyts; Andrew O M Wilkie
Journal:  Nat Genet       Date:  2009-10-25       Impact factor: 38.330

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