Servizio Comunitario di Informazione in materia di Ricerca e Sviluppo - CORDIS

Development of a combined SSCP/DGGE analysis for a more efficient mutation screening in oncogenes and tumour suppressor genes

In the course of this project, a new combined SSCP/DGGE analysis method for mutation screening with high efficiency was developed. The results demonstrate that activating point mutations in N-ras and BRAF oncogenes are present in the majority of human melanoma precursors (premalignant melanocytic naevi). N-ras mutations occur most frequently in congenital naevi, BRAF mutations mainly in dysplastic naevi. These findings strongly suggest a mechanistic role for these gene alterations in the genesis of human malignant melanoma.

Furthermore, the tumour suppressor genes apaf1 and chk2 was found to be mutated in malignant melanomas. In addition, evidence for functional deletions of p16 by point mutational mechanisms may indicate a causal role for reactive oxygen species (UV-A- and UV-B-induced) in melanoma development. These findings can support a better characterization of melanoma biopsies and help to improve grading and staging in melanoma diagnostics.

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