Journal ArticleDOI
Distinct Sets of Genetic Alterations in Melanoma
John A. Curtin,Jane Fridlyand,Toshiro Kageshita,Hetal N. Patel,Klaus J. Busam,Heinz Kutzner,Kwang Hyun Cho,Setsuya Aiba,Eva B. Bröcker,Philip E. LeBoit,Daniel Pinkel,Boris C. Bastian +11 more
TLDR
The genetic alterations identified in melanoma at different sites and with different levels of sun exposure indicate that there are distinct genetic pathways in the development of melanoma and implicate CDK4 and CCND1 as independent oncogenes in melanomas without mutations in BRAF or N-RAS.Abstract:
Background Exposure to ultraviolet light is a major causative factor in melanoma, although the relationship between risk and exposure is complex. We hypothesized that the clinical heterogeneity is explained by genetically distinct types of melanoma with different susceptibility to ultraviolet light. Methods We compared genome-wide alterations in the number of copies of DNA and mutational status of BRAF and N-RAS in 126 melanomas from four groups in which the degree of exposure to ultraviolet light differs: 30 melanomas from skin with chronic sun-induced damage and 40 melanomas from skin without such damage; 36 melanomas from palms, soles, and subungual (acral) sites; and 20 mucosal melanomas. Results We found significant differences in the frequencies of regional changes in the number of copies of DNA and mutation frequencies in BRAF among the four groups of melanomas. Samples could be correctly classified into the four groups with 70 percent accuracy on the basis of the changes in the number of copies of...read more
Citations
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Journal ArticleDOI
The pathology of melanoma.
TL;DR: As the incidence of melanoma continues to rise, now more than ever, clinicians and histopathologists must have familiarity with the various clinical and pathologic features of cutaneous melanoma.
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Vemurafenib-induced radiation recall dermatitis: case report and review of the literature.
Katrin Conen,Katarzyna Mosna-Firlejczyk,Christoph Rochlitz,Andreas Wicki,Peter Itin,Andreas W. Arnold,Markus W Gross,Frank Zimmermann,Alfred Zippelius +8 more
TL;DR: It is believed that physicians should be aware of this additional cutaneous side effect of vemurafenib and that continuation of the treatment is safe when close clinical control and interdisciplinary management can be provided.
Journal ArticleDOI
Identification of TFG (TRK-fused gene) as a putative metastatic melanoma tumor suppressor gene
Ken Dutton-Regester,Ken Dutton-Regester,Lauren G. Aoude,Derek J. Nancarrow,Mitchell S. Stark,Linda O'Connor,Cathy Lanagan,Gulietta M. Pupo,Varsha Tembe,Candace D. Carter,Michael G. E. O'Rourke,Richard A. Scolyer,Richard A. Scolyer,Graham J. Mann,Christopher W. Schmidt,Adrian C. Herington,Nicholas K. Hayward +16 more
TL;DR: In this paper, high density SNP arrays are used to identify DNA copy number changes in tumors such as homozygous deletions of tumor suppressor genes and focal amplifications of oncogenes.
Journal ArticleDOI
Comparative safety of BRAF and MEK inhibitors (vemurafenib, dabrafenib and trametinib) in first‑line therapy for BRAF‑mutated metastatic melanoma
TL;DR: Toxicities produced by BRAF and MEK inhibitors in patients diagnosed with serine/threonine-protein kinase B-Raf-mutated metastatic melanoma confirmed that the results obtained in clinical trials are similar to those obtained inclinical practice.
Journal ArticleDOI
Genetic mutations involved in melanoma: a summary of our current understanding.
TL;DR: The biomolecular understanding of melanoma is in flux, and a greater understanding of the interaction between genetic factors and environmental factors, such as MC1R, CDKN2A, BRAF, and ultraviolet light, is emerging from landmark research.
References
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Mutations of the BRAF gene in human cancer
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Comparison of discrimination methods for the classification of tumors using gene expression data
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High resolution analysis of DNA copy number variation using comparative genomic hybridization to microarrays
Daniel Pinkel,Daniel Pinkel,Richard Segraves,Damir Sudar,Steven M. Clark,Ian Poole,David Kowbel,Colin Collins,Wen Lin Kuo,Chira Chen,Ye Zhai,Shanaz H. Dairkee,Britt-Marie Ljung,Joe W. Gray,Joe W. Gray,Donna G. Albertson,Donna G. Albertson,Donna G. Albertson +17 more
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