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
Emerging trends in the epidemiology of melanoma.
TL;DR: A review article provides an update in the epidemiology of cutaneous melanoma and discusses recent developments in the field, with an interesting association of melanoma with Parkinson disease having been noted.
Journal ArticleDOI
β-Catenin induces immortalization of melanocytes by suppressing p16INK4a expression and cooperates with N-Ras in melanoma development
Véronique Delmas,Friedrich Beermann,Silvia Martinozzi,Suzanne Carreira,Julien Ackermann,Mayuko Y. Kumasaka,Laurence Denat,Jane C. Goodall,Flavie Luciani,Amaya Viros,Nese Demirkan,Boris C. Bastian,Colin R. Goding,Lionel Larue +13 more
TL;DR: Stabilized beta-catenin reduces the number of melanoblasts in vivo and immortalizes primary skin melanocytes by silencing the p16(Ink4a) promoter, revealing that synergy between the Wnt and mitogen-activated protein (MAP) kinase pathways may represent an important mechanism underpinning the genesis of melanoma.
Journal ArticleDOI
Molecular testing for BRAF mutations to inform melanoma treatment decisions: a move toward precision medicine.
TL;DR: A literature search was performed using MEDLINE/PubMed and scientific congress databases using the terms ‘BRAF,’ ‘mutation, and ‘cancer/tumor.’ These results were filtered to include diagnostic tests for determining BRAF mutation status as mentioned in this paper.
Journal ArticleDOI
Integrative analysis of the melanoma transcriptome.
Michael F. Berger,Joshua Z. Levin,Krishna G. Vijayendran,Krishna G. Vijayendran,Andrey Sivachenko,Xian Adiconis,Jared Maguire,Laura A. Johnson,Laura A. Johnson,James T. Robinson,Roeland Verhaak,Carrie Sougnez,Robert C. Onofrio,Liuda Ziaugra,Kristian Cibulskis,Elisabeth Laine,Jordi Barretina,Wendy Winckler,David E. Fisher,Gad Getz,Matthew Meyerson,Matthew Meyerson,David B. Jaffe,Stacey Gabriel,Eric S. Lander,Eric S. Lander,Eric S. Lander,Reinhard Dummer,Andreas Gnirke,Chad Nusbaum,Levi A. Garraway,Levi A. Garraway +31 more
TL;DR: Using paired-end massively parallel sequencing of cDNA (RNA-seq) together with analyses of high-resolution chromosomal copy number data, this work identified 11 novel melanoma gene fusions produced by underlying genomic rearrangements, as well as 12 novel readthrough transcripts.
Journal ArticleDOI
Overexpression of Akt converts radial growth melanoma to vertical growth melanoma
Baskaran Govindarajan,Baskaran Govindarajan,James E. Sligh,James E. Sligh,Bethaney J. Vincent,Bethaney J. Vincent,Meiling Li,Meiling Li,Jeffrey A. Canter,Jeffrey A. Canter,Brian J. Nickoloff,Richard J. Rodenburg,Jan A.M. Smeitink,Larry W. Oberley,Yuping Zhang,Joyce M. Slingerland,Rebecca S. Arnold,J. David Lambeth,Cynthia Cohen,Lu Hilenski,Kathy K. Griendling,Marta Martínez-Diez,José M. Cuezva,Jack L. Arbiser,Jack L. Arbiser +24 more
TL;DR: It is demonstrated that Akt was associated with malignant transformation of melanoma through at least 2 mechanisms, and may stabilize cells with extensive mitochondrial DNA mutation, which can generate ROS, and can induce expression of the ROS-generating enzyme NOX4.
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
TL;DR: The implementation of array CGH is demonstrated to be able to measure copy number with high precision in the human genome, and to analyse clinical specimens by obtaining new information on chromosome 20 aberrations in breast cancer.
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