Mutational profiling in melanocytic tumors: multiple somatic mutations and clinical implications.

Abstract

In this study, we analyzed multiple somatic mutations in 10 genes relevant in melanoma tumorigenesis and targeted therapies. Overall, 45% of the tumors showed mutations and, in particular, 33% had multiple mutations. Based on our results, we conclude that the assessment of mutation status of multiple genes, including CDKN2A, could provide a genetic profile that can be useful as a prognostic and therapeutic marker in melanocytic tumors.

• Authors: Antonio Giovanni Richetta, Valentina Silvestri, Simona Giancristoforo, Piera Rizzolo, Sara D'Epiro, Veronica Graziano, Carlo Mattozzi, Anna Sara Navazio, Mario Falchetti, Stefano Calvieri, Laura Ottini
• Journal: Oncology (Oncology) Vol. 86 Issue 2 Pg. 104-8 ( 2014) ISSN: 1423-0232 [Electronic] Switzerland
• PMID: 24457427 (Publication Type: Journal Article)
• Copyright: © 2014 S. Karger AG, Basel.

Chemical References

• Biomarkers, Tumor
• Membrane Proteins
• Proto-Oncogene Proteins c-kit
• Protein Serine-Threonine Kinases
• STK11 protein, human
• AMP-Activated Protein Kinase Kinases
• GTP Phosphohydrolases
• NRAS protein, human
• HRAS protein, human
• Proto-Oncogene Proteins p21(ras)

Topics

• AMP-Activated Protein Kinase Kinases
• Biomarkers, Tumor (genetics)
• DNA Mutational Analysis
• GTP Phosphohydrolases (genetics)
• Genes, p16
• Humans
• Melanoma (genetics)
• Membrane Proteins (genetics)
• Mutation, Missense
• Protein Serine-Threonine Kinases (genetics)
• Proto-Oncogene Proteins c-kit (genetics)
• Proto-Oncogene Proteins p21(ras) (genetics)
• Skin Neoplasms (genetics)