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Melanoma genetics/genomics

Edited by: Michael R. Eccles

Publisher: Frontiers Media SA

ISBN: 978-2-88919-208-3

Product Name: Frontiers Research Topic Ebook

Melanoma is a complex disease driven both by genetic and environmental risk factors, and requires multiple genetic mutations in the evolution from benign melanocyte or nevus into malignant melanoma (MM). Genetic studies of familial and sporadic melanoma have revealed surprising insights into the molecular pathogenesis of this deadly cancer. Collectively, the molecular data show there are four signature pathways involved in melanomagenesis: activation of the RAS/RAF/MEK/ERK and PI3K/AKT pathways and inactivation of the INK4a/RB and ARF/P53 pathways (Chin, 2003). Acting in a coordinated manner, these pathways provide melanocytes the requisite acquired abilities needed to develop into cancer cells: growth-factor independence, insensitivity to anti-growth signals, apoptosis evasion, limitless replicative potential, sustained angiogenesis and tissue invasion and metastasis. Insights into the relative roles and interactions between these pathways have been provided through multiple different experimental approaches and systems, which span from human GWAS and familial studies and/or tumour sequencing to zebrafish and mouse transgenic and knockout models, retroposon mutagenesis studies, cell culture systems, developmental biology, and gene expression studies to name a few.

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